PAEDIATRICS 1 Flashcards

Question

CF

Answer 1

* Bronchiedasis * \> (i.e. arrow up) Inflation * tree in budd * +/- Central line

Answer 2

* the umbilical attachment of the bladder (initially allantois then urachus). * Usually, atrophies (umbilical ligament) as the bladder descends into the pelvis. Persistent canalization of the urachus may lead to urine flow from the bladder to the umbilicus * Tumors: adenocarcinoma, yolk sac tumor adenoma, fibroma * Urachal cyst: may splay umbilical arteries on prenatal Doppler USS\>

Answer 3

* most common neoplasm in men between the ages of 20 and 34 years * over 90% are primary GCTs * Stratified by age * 1st decade: Yolk sac tumour, testicular teratoma * 2nd decade: choriocarcinoma * 3rd decade: embryonal cell carcinoma * 4th decade: seminioma * \> 7th decade: lymphoma (usuall NHL) or spermatocytic seminoma * Risk factors * Cryptoorchidism * Klinefelfter sydrome * fhx * radiation * Phx * HIV, Mups * Microlithisias * hypospadia * Types * Primary * Testiscular GCT 90% of priomary tumours * Testicular seminoma 40% * NSGCT (60%) * Testicular MGCT * testicular embryonal cell carcinoma * Testicular teratoma * Testicular yolk sac tumour * Testicular choriocarcinoma * Testicular NGCT * Sertoli cell tumour * Leydig cell tumour * Granulosa cell tumour * Fibnoma techoma tumour * Primary testicular lymphoma * Secondary testicular tumour * Secondary testicular lymphoma * Testicular leukaemia\ * Mets * The main types of germ cell tumors (GCTs) in the testicles are seminomas and non-seminomas. These types occur about equally. Many testicular cancers contain both seminoma and non-seminoma cells. These mixed germ cell tumors are treated as non-seminomas because they grow and spread like non-seminomas.

Answer 4

* Bronchopulmonary foregut malformation (BPFM) is a term that encompases: * congenital pulmonary airways malformation (CPAM) * pulmonary sequestration * hybrid lesion * foregut duplication cysts * bronchogenic cyst * neurenteric cyst * enteric cyst * Embryology * anomalous budding of the embryonic foregut and tracheobronchial tree * Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 8277

Answer 5

**_Hepatoblastoma_** * Most common symptomatic liver tumor in children under 5. * **Associations**: * Beckwith-Wiedemann syndrome, * Gardner syndrome, * familial adenomatosis polyposis, * type 1A glycogen storage disease, and * trisomy 18. * **Imaging Findings:** * hemorrhage, * necrosis, and * calcifications, * they can invade portal or hepatic veins. * On ultrasound, they classically have a **“spoke wheel” appearance.** * **Metastasis** * ****Hepatoblastomas mos**t commonly metastasize to lungs**. * **Image description:** * There is a well-circumscribed, lobulated mass centered in the right hepatic lobe with heterogeneous T1-hypointense and T2-hyperintense signal and also enhancing areas as well as nonenhancing necrotic areas. * The clinical history and imaging characteristics are most consistent with a hepatoblastoma. * Hepatocellular carcinomas tend to manifests after age 5 and in children with underlying liver disease. * Mesenchymal hamartomas are seen in children younger than 5 but are predominantly cystic masses, where the portal vein feeds a branch of tumor. * **Clinical** * Hepatoblastomas typically manifests as an enlarging abdomen and hepatomegaly, and they may result in anorexia and weight loss. * **Tumor Markers** * Hepatoblastomas are associated with elevated **AFP** in 90% of cases. * They have been known to secrete human chorionic gonadotropin (**HCG**) and can manifest with features of **precocious puberty in boys.**

Answer 6

* Neuroblastoma * Glanglioneuroma * NF * Neurenteric cysts * Meningoceles * Extramedullary hematopoeisis * Approximately **90%** of posterior mediastinal masses in children are of **neurogenic origin** * These include * ganglion cell tumors, * nerve sheath tumours * nerve tumors * paragangliomas * Most posterior mediastinal tumors in children are **ganglion cell tumors.** * These tumors arise from **sympathetic chain ganglia.** * spectrum of disease ranging from: * **Neuroblastoma** * median age of **2** years * most aggressive * **ganglioneuroblastoma** * median age of **5.5** years * less aggressive * **ganglioneuroma** * after **10** years of age * benign * **All three have similar radiologic features.** * On conventional radiography these tumors appear as a vertically elongated mass with tapered superior and inferior margins (Fig. 3). * The lateral margin is usually smooth and convex. * About 30% contain calcification. * Bone changes include spreading and erosion of ribs and widening of neural foramina[3]. * https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2967153/#:~:text=Most%20posterior%20mediastinal%20tumors%20in,aggressive%2C%20ganglioneuroblastoma%20and%20benign%20ganglioneuroma.

Answer 7

Croup * AKA * Subglottic laryngotracheobronchitis. * Pathogen * parainfluenza virus. * Age: * 6months to 3 years (ie younger age group than epiglottisits) * Clinically: * barking cough * upper respiratory tract infection, * self limited * Xray: * Subglottic narrowing (inverted V sign on AP) * Steeple sign * Lateral view should be obtained to exclude epiglottitis. * Steeple sign: * loss of subglottic shoulders. * Epiglottitis may mimic croup on AP view

Answer 8

Pulmonary sequestration * AKA * accessory lung, * Definition * aberrant formation of segmental lung tissue that has no connection with the bronchial tree or pulmonary arteries. * It is a bronchopulmonary foregut malformation (BPFM). * There are two types: * intralobar sequestration (ILS) * accounts for the majority 75-85% of all sequestrations * present later in childhood with recurrent infections * extralobar sequestration (ELS) * less common 15-25% of all sequestrations * usually present in the neonatal period with respiratory distress, cyanosis, or infection * recognised male predilection M: F ratio ~4:1 * can be infradiaphragmatic in ~10% of cases * Imaging features * Large \>5cm, * mass near diaphragm * Air fluid level if infected * Surrounding pulmonary consolidation * May communicate with GIT (BFM). * Plain radiograph * often show a triangular opacity in the affected segment * may show cystic spaces if infected * both ILS and ELS can rarely have air bronchograms as they may acquire a connection to the bronchial tree due to an infective process or, rarely, they can have foregut communication (oesophagus or stomach) as part of hybrid lesion

Answer 9

* Calcaneal apophysitis. * Common cause of heel pain * particularly in young and physically active people. * Pathology: repetitive microtrauma to growth plates of the calcaneus. * Foot xray usually normal. Sclerosis and fragmentation of the calcaneal apophysis are seen on both sides. Case Discussion Sever disease is a type of the non-articular osteochondrosis of the calcaneal apophysis. Foot radiograph findings in Sever disease have low sensitivity and specificity because those with Sever disease may not have it, thus radiological identification of calcaneal apophysitis without the absence of clinical information is not reliable. The main differential is normal fragmentation of the calcaneal apophysis.

Answer 10

* The cloaca is the terminal portion of the hindgut. * It is an embryonic structure (weeks 4-7) in which the distal ends of the gastrointestinal tract and urogenital system share a common channel. * The most distal aspect of the cloaca is termed the cloacal membrane. * The cloaca, or portions of it, can persist after birth and contribute to congenital urinary anomalies. * This developmental anomaly occurs in **females only.** * Divided by cloacal (urorectal) septum into: * a dorsal portion (rectum) * a ventral portion (allantois) * atrophies as umbilical ligament, bladder, urogenital sinus (pelvic and phallic portions) * Wolffian and Mullerian ducts drain into the ventral portion of the cloaca * Cloacal exstrophy (CE) is an extensive congenital abdominal wall defect which encompasses: * exstrophy of the bladder * omphalocele * lower abdominal wall defect

Answer 11

* Airway obstruction (ie FB) * Mechanical ventilation * Obstructive lung disease (Macklin effect) * Trauma * Vomiting * Spontaneous * Infection (mec asp, pneumonia)

Answer 12

* Usually age \<8years * Pneumococcal pneumonia * in early consolidative phase * Pneumonia appears round because of poorly developed collateral pathways (pores of Kohn and channels of lambert) * With time the initially round pneumonia develops into a more typical consolidation. * The infective agent in round pneumonia is bacterial. * There is no specific bacterium that causes round pneumonia, but since Streptococcus pneumoniae is the most common cause of chest infection, it is little surprise that it is the leading cause of round pneumonia * Haemophillus influenza is also a causative organism * Plain radiograph * Round pneumonias are round-ish and while they are well-circumscribed parenchymal opacities, they tend to have irregular margins. * They most commonly occur in **superior segments of lower lobes** * in the majority of cases (98%), they are solitary. * Air **bronchograms** are **often presen**t though are only seen in 17% of cases when they occur in adults * DDx * pulmonary masses * bronchogenic cyst * neuroblastoma * type III CPAM * pulmonary metastases * pleural fibroma * fungal infection * Case courtesy of Dr Yusra Sheikh, Radiopaedia.org, rID: 68757

Answer 13

* - caustic ingestion * - Hereditary angioedema (pictures) * - Omega-shaped epiglottis * - Stevens Johnson syndrome. A 33-year-old female with hereditary angioedema (HAE). Soft tissue swelling of the neck during recurrent angioedema attacks. a The patient complained of neck swelling. Lateral radiograph of the neck shows thickening of the retropharyngeal soft tissue (asterisk), enlargement of the epiglottis with narrowing of the vallecula (large arrow), and thickening of the aryepiglottic folds (small arrow). b Six months later, the patient again complained of neck swelling and swallowing difficulty. Lateral view of the neck plain film shows enlargement of the epiglottis (large arrow, thumb sign) and thickening of the aryepiglottic fold (small arrow). No retropharyngeal soft tissue thickening is noted https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4035492/?report=classic

Answer 14

* Forms entire female genitalia except the distal third of the vagina.

Answer 15

* vascular * double aortic arch * anomalous left pulmonary artery * innominate artery compression syndrome * enlargement of the aorta (marfans) * enlargement of the pulmonary arteries (congenital absence of the pulmonary valve. * Malposition of the descending aorta (midline descending aorta-carina-compression syndrome). * enlargment of the lefft atrium * Mediastinal masses * bronchogenic cyst * anterior mediastinal masses * Abnormal chest wall configuration (narrow thoracic inlet)

Answer 16

* Crossed fused Renal Ectopia * 1/1000 * M:F 2:1 * 90% of crossed renal ectopia are fused. Case courtesy of Dr Mohamed Morsi, Radiopaedia.org, rID: 52893

Answer 17

Aqueduct Stenosis * DEFINITION * THe most common cause of congenital obstructive hydroicephalus. Can also be an aquired abnormality in adults. * EPID * 1/5000. * May be inherited in x-linked recessive manner (bickers adams edwards syndrome) * CLINICAL PRESENTATION: * Infant with enlarging head size, bulging fontanellels and gaping cranial suterus * Setting sun phenomemon * BAE Syndrome: profound intellectual disability, bilateral adducted thumbs * Raised ICP, chronic hydrocephalus (HA, vomiting, decreased conscious state). * PATHOLOGY * Congential * aqueductal webs (image) or diaphragms * Gliosis * Acquired * extrinsic compression * Tectal plate glioma * pineal tumour * posterior fossa tumor * Cerebral vascular malformation * Intrisnic * Infection: meningitis/ventriculitis * SAH. * IMAGING FINDINGS: * MRI/USS * may have normal posterior fossa * fetal hydrocephalus * thinning of the cortical mantle * Macrocephaly * enlargement of the lateral and 3rd ventricles * Aqueduct funneling. * Normal 4th ventricle. * +/-Web. * TREATMENT: * third ventriculostomy * VP shunt

Answer 18

* Definition * Langerhans cell histiocytosis (LCH) is a disorder that primarily affects children, but is also found in adults of all ages. People with LCH produce too many Langerhans cells or histiocytes, a form of white blood cell found in healthy people that is supposed to protect the body from infection. * EPID: * Skeleton is the most commonly involved organ system in LCH and is the most common location for single lesion LCH AKA eosinophilic granuloma. * in 60-80% of cases it is the only organ system invollved. * Male to female 2:1. * CLINICAL PRESENTATION: * Lesions may be asymptomatic or patient may present with pain, swelling tenderness, general malise, fever with leukocytosis. * PATHOLOGY: * proliferation of langerhans cells with increased eosinophils, lymphocutes and neutrophils. These cells produce prostaglandins which result in medullary bone resorption causing the symptoms. * SITES * skull 50% * pelvis 23% * femur 17% * Ribs 8% * humerus, mandible 7% * RADIOGRAPHIC FEATURES: * Skull: * punched out lytic lesions without sclerotic rim. Double contour or beveled edge appeearance may be seen due to asymmetrical involvement of the inner and out tables (hole within a hole sign). * Button sequestrum representing residual bone. * Geographic skull * Mandible: * irregular radiolucent areas mostly involving superficial alveolar bone. * Floating tooth: loss of lamina dura * Spine * Vertebra plana * Long bones: * permeative and aggressive appearing lesion * Diaphysis or metadiaphysis and respects growth plates. * Endosteal scalloping, periosteal reaction (in healing phase it can appear as solid benign periosteal reaction), cortical thinning, intracortical tunneling and associated soft tissue mass. * DDX * OM * Round blue cell tumours * mets * primary bone tumour * lymphoma/leukaemia

Answer 19

* SAFE POEM S: Swyer-James syndrome A: agenesis (pulmonary) F: fibrosis (mediastinal) E: effusion (pleural effusion on the contralateral side) P: pneumonectomy/pneumothorax O: obstruction E: embolus (pulmonary) M: mucous plug

Answer 20

* Hx of the germinal matrix (involutes by 34 weeks0 as a consequence of perinatal stress affecting the subepundumal region * Grade one: restricted to subependymal region/GM in the caudothalamic groove. Good prognosis * Extenswion into normal size ventricles and filling \<50% ventricular volume. Good prognosis * 3: extension int dilated ventricles. Mortality 20%. * Prenchymal haemorrhage a/w G3 IVH. due to sequelae of venous infarction. 90% mortality.

Answer 21

ASD Cause of infarct or brain absess Paradoxical Embolism (PDE) occurs when a thrombus crosses an intracardiac defect into the systemic circulation. Patients may present with symptoms based on the site of the resultant embolization. These sites can include the brain, heart, gastrointestinal tract, or extremities

Answer 22

* PHACES * posterior fossa malformations * hemangiomas * arterial anomalises * co-arctation of aorta. * eye abnormalities * Eitiology * unknown. * It appears to occur randomly (sporadically) for no known reason. * There have not been reports of the disorder occurring in multiple members of the same family. * Some researchers believe that the disorder results from an unknown postzygotic somatic mosaic mutation. * Epidemiology * PHACE syndrome affects more females than it does males, although researchers are not exactly sure why this is the case. * DDx * Sturge weber syndrome = capilary malformation (port wine stain in V1 distribution) * eyes * brain * PHACES = haemangioma * **Difference between vasuclar malformations and haemangioma:** * Both vascular tumors and malformations may occur anywhere on the body. * hemangiomas * vascular tumors that are rarely apparent at birth, grow rapidly during the first 6 months of life * involute with time * do not necessarily infiltrate * but can sometimes be destructive. * Vascular malformations * are irregular vascular networks defined by their particular blood vessel type. * In contrast to hemangiomas, they are present at birth, slow growing, infiltrative, and destructive. * Almost all vascular malformations and nearly 40% of hemangiomas eventually require intervention.

Answer 23

* GM is a fetal structure that is a stem source for NEUROBLASTS. * Typically involutes by term but is still present in prem infants within the Caudothalamic groove. * Highly vascular and subject to hemorrhage with fluctuation in cerebra blood pressure. * Hx most commonly occues in premature infants during the first days after birth. * Complications include * destruction of the precursor cells within the geminal matrix * hydrocephalus * hemorrhagic infarction of the surrounding periventricular tissues

Answer 24

* Cystic Lung lesions * Rash and adenopathy * Findings consistent with LCH * Look for bevelled edge lytic skull lesion

Answer 25

* Mycoplasma Pneumoniae * chronicity often post amoxyl non-responder * usually reticular, uniloabr Interstitial and airspace oppacity * https://pubs.rsna.org/doi/10.1148/radiographics.21.1.g01ja10121

Answer 26

intersection between a line drawn tangential to the acetabular roof and hilgenreiner line, forming an acute angle. It should be approximately 30degree at birth and progressively reduce with the maturation of the joint.

Answer 27

forms entire female genitalia except the distal third of the vagina.

Answer 28

* Moya moya * infarcts and spidery vessels * Case courtesy of Dr Abdallah Al Khateeb, Radiopaedia.org, rID: 50636 * Epidemiology Moyamoya is a disease of children and young people, with a bimodal age distribution 6: early childhood: peak ~4 years of age (two-thirds) middle age: 30-40 years of age (one-third) The condition was initially described in Japanese patients, where it is still most common, in which 7-10% of cases are familial. Moyamoya disease affects the bilateral distal ICA and circle of Willis. Up to 18% of patients with moyamoya may present with unilateral angiography-documented disease 8. Small abnormal net-like vessels proliferate giving the characteristic "puff of smoke" appearance on direct angiography. CTA and MRA are not always able to demonstrate this appearance on account of lower flow and spatial resolution. Although classically described affecting the ICA, over 50% of patients also have involvement of the posterior cerebral arteries. Generalised cerebral atrophy is a common finding. Watershed infarcts are also commonly seen. Cerebral haemorrhage is more likely to occur in adult patients, patients with collateral circulation where perfusion has normalised such as long-term post bypass surgery or patients with extensive choroidal collaterals, advanced Suzuki stage, fetal-type PCA, patients with previous haemorrhage or microbleeds, and patients with ACA occlusion 13.

Answer 29

* Progressive overdistention of one or more pulmonary lobes but usually not the entire lung. * 10% of patients have congenital heart disease (PDA and VSD) * Case Discussion * Congenital lobar emphysema (CLE) is the overinflation of one or more lung lobes, present from birth with a lung histologically normal. * The left upper lobe is most frequently affected. * The causes are varied but are all linked to an abnormal intrauterine development. * The common mechanism includes obstruction of a lobar or segmental bronchus with valve mechanism that results in gas trapping with overdistension of the lung and tissue destruction. * Acknowledgment: Dr Maurizio Salvi. * Epidemiology * Congenital lobar overinflation is more common in males (M: F = 3:1) 5. * Associations * Congenital lobar overinflation may be associated with an aberrant left pulmonary artery 7 and also with congenital heart defects: * ventricular septal defect (VSD) * patent ductus arteriosus (PDA) * tetralogy of Fallot (ToF) * Case courtesy of Dr Domenico Nicoletti, Radiopaedia.org, rID: 37234

Answer 30

* Wilms tumour * AKA * nephroblastoma * epid * most common cancer of the kidneys in children. * Wilms' tumor most often affects children ages 3 to 4 and becomes much less common after age 5. * Wilms tumours are the most common paediatric renal mass, accounting for over 85% of cases * account for 7% of all childhood cancers * When part of a syndrome they occur even earlier, typically between 2 and 24 months of age 1. * Clinical * The vast majority are unilateral with less than 5 % occurring bilaterally. * hypertension due to excessive renin production is found in up to 25% of patients * acquired von Willebrand disease is seen in 8% * Radiographic features * Wilms tumours are usually large heterogeneous solid masses which displace adjacent structures. * Occasionally they may be mostly cystic. * Metastases are most commonly to lung (85%), liver and local lymph nodes 1. * Similar to renal cell carcinoma tumour thrombus into the renal vein, IVC and right atrium is also characteristic of advanced disease. * Associations * Although most cases are sporadic and only 2% of cases are familial, a number of associations are recognised 1,2: * overgrowth syndromes (WT2 gene) * Beckwith-Wiedemann syndrome * Perlman syndrome * Simpson-Golabi-Behmel syndrome * Sotos syndrome * non-overgrowth syndromes (WT1 gene) * WAGR syndrome * Denys-Drash syndrome * Frasier syndrome * Bloom syndrome 13 * isolated abnormalities: * cryptorchidism: 3% * hemihypertrophy: 3% * hypospadias: 2% * sporadic aniridia * renal fusion * Case courtesy of Assoc Prof Frank Gaillard, Radiopaedia.org, rID: 5957 * look for nephroblastomatosis in bilateral wilms * MRI images of bilateral nephroblastomatosis enhancing the diffuse homogeneity and the rind-like peripheral location of the lesions (a) compared with the heterogeneity and round shape of bilateral WT (b). The left kidney seems suitable to a nephron sparing surgery as the mass arises from the superior pole above the left pedicle (b). Corresponding apparent diffusion coefficient (ADC) maps demonstrate low ADC in both kidneys with nephroblastomatosis (c) but different ADC values between the right solid nephroblastoma and the left cystic tumour (d).

Answer 31

- Hyperlucent lobe (hallmark) - 1st days of life, alveolar pacification because there is no clearance of lung fluid through bronchi - May be asymptomatic in neonate but becomes symptomatic later in life. - most common in left Upper lobe (40%).

Answer 32

* Child * posterior fossa astrocytoma * pilocytic astrocytoma: second most common (25-35%) * brainstem glioma * medulloblastoma: most common (30-40%) 7 * ependymoma * atypical teratoid/rhabdoid tumour (AT/RT) * haemangioblastoma (uncommon except in patients with vHL) * teratoma (in infants) * MEAT Pork Beef Ham * medulloblastoma * Ependymoma * ATRT * Teratoma * Pilocytic Astrocytoma * Brain stem glioma * Hemangioblastoma

Answer 33

Scimitar syndrome * AKA * hypogenetic lung syndrome * Features * hypoplastic lung * drained by an anomalous pulmonary vein into the systemic venous system * It is a type of partial anomalous pulmonary venous return * one of the several findings in congenital pulmonary venolobar syndrome. * Clinical * Infants present with signs of heart failure, which may be due to associated congenital heart disease 13. * Adults are most frequently asymptomatic but may have recurrent pulmonary infection or dyspnoea on exertion. * Pathology * It is essentially a combination of pulmonary hypoplasia and partial anomalous pulmonary venous return (PAPVR). * It almost exclusively occurs on the right side. * Haemodynamically, there is an acyanotic left to right shunt. The anomalous vein usually drains into: * inferior vena cava: most common * right atrium * portal vein * In some variants, the abnormal lung segment may receive arterial blood supply from the aorta or its branches * Some cases may show the anomalous systemic arteries supplying an area of associated pulmonary sequestration Associations * congenital heart disease, e.g. ASD, VSD, tetralogy of Fallot, patent ductus arteriosus * ipsilateral diaphragmatic anomalies, e.g. accessory diaphragm, diaphragmatic hernia * localised bronchiectasis * horseshoe lung * vertebral anomalies, e.g. hemivertebrae 4 * genitourinary tract abnormalities 4 * pulmonary sequestration 10 Plain radiograph * small, hypoplastic lung * with ipsilateral mediastinal shift, * and in one-third of cases, the anomalous draining vein may be seen as a tubular structure parallelling the right heart border in the shape of a Turkish sword (“scimitar”). * The right heart border may be blurred.

Answer 34

TREVORS DISEASE * Intra articular Osteocondroma * Dysplasia epiphysealis hemimelica (DEH), also known as Trevor’s disease, is a developmental bone disease of childhood. It is rare and clinical experience with this condition is limited. Most cases are diagnosed before 8 years of age. It is characterized by an abnormal growth of cartilage arising from the cartilage of the terminal ends (epiphysis) of the long bones, particularly of the lower limbs. The bones of the knee and ankle joints are most commonly affected, as well as part of the foot (tarsal bones). The upper limbs and spine are rarely involved. The abnormal cartilage produces an irregular nodular mass located either in the medial or lateral part of the bone (hemimelic), usually medial. DEH may affect a single bone (localized form), multiple bones in a single limb (classical form) or an entire limb (generalized) usually involving a leg from the pelvis to the foot. Approximately two-thirds of affected children have multiple lesions. DEH was first described in the medical literature in 1926. Trevor recognized this condition in 1950. The name, dysplasia epiphysealis hemimelica first appeared in the medical literature in 1956.

Answer 35

* Congenital Pulmonary Airway Malformation * Definition: * Formerly “congenital cystic adeomatoid malformation”. * multicystic masses of segmental lung tissue with abnormal bronchial proliferation. * Part of the spectrum of bronchopulmonary foregut malformations. a * CLINCIAL PRESENTATION: * May be identified on Antenatal USS * Resp distress * If large can cause pulmonary hypoplasia * recurrent chest infection. * PATHOLOGY * Failure of normal bronchoalveolar development. Hamatomatous prolifertation of terminal respiratory units in a gland like pattern (adenomatoid) without proper alveolar formation. Proliferation of polyploid glandular lung tissue without normal alveolar differentiation. Respiratory distress occurs during first days of life. * Histologically characterised by andemoatoiud proliferation of bronchiole like structures and macro-or micro- cysts lined by columnar or cuboidal epithelium. * Have intracystic communications and unlike bronchogenci cysts can also have a connection to the rteracheobronchial tree. * ASSOCIATIONS: * Hybrid lesion: CPAM and Pulmonary sequestration * Renal agenesis * Polyhydramnious * Hydrops fetalis * Lung malignancy * 10% of paediatric lung cancers have a hx of CPAM. BAC (Type CPAM, Pleuropyulmonary blastoma associated with type 4 CPAM). * DDX * Bronchogenic cyst * does not usually communicate with the bronchial tree and therefore typically not air filled. * Pulmonary sequestration: * systemic arterial supply * Hybrid lesions may present with both CPAM and sequestration features. * Con. diaphragmatic herniation * Congential lobar emphysema * hyperlucent and hyperinflated lung segment * no cystic or solid components * Localised congenital cystic bronchiectasis.

Answer 36

* Dandy Walker Malformation * insult to developing certebral um and fourth ventricel * COngenital atresia of the foraminal of magendie and luschka * Mortality rate 25-50% Classically Dandy-Walker malformation consists of the triad of: 1. hypoplasia of the vermis and cephalad rotation of the vermian remnant 2. cystic dilatation of the fourth ventricle extending posteriorly; usually the cerebellar hemispheres are displaced anterolaterally, but with a normal size and morphology 11 3. enlarged posterior fossa with torcular-lambdoid inversion (torcular lying above the level of the lambdoid due to abnormally high tentorium) In 75-90% of patients, obstructive hydrocephalus is evident by three months of age 2,11, in many cases due to aqueduct stenosis 10. CSF flow study is recommended to better assess the hydrodynamic changes and identify eventual aqueductal stenosis association, which cannot be treated by cystoperitoneal shunt placement 11. * Dandy walker spectrum * ie a mild form of DW malformation * posterior fossa cyst with partially formed fourth ventricle and mildl verminal hypoplasia * The fourth ventrical is no as dilatated as in the DW malformation because it communicates freeliy with the basal cisternal though a patent foramen of majendie. More common than DW malformation. * Fourth ventricle communicates dorsally with enlarged cisternal magna: keyhole deformity. * Hydrocephalus not common * Posterior fossa not enlarged. Associations * non-syndromic CNS: in ~70% of cases other CNS abnormalities are present, including 2 * cortical dysplasia, polymicrogyria, or subependymal grey matter heterotopia * dysgenesis of the corpus callosum * lipoma of the corpus callosum * holoprosencephaly * schizencephaly * occipital encephalocele: less than 5% 2 * lumbosacral meningocele * syringomyelia * non-syndromic non-CNS: found in ~25% of patients 2 * cleft palate * facial angiomas * low-set ears * polydactyly or syndactyly * cardiac anomalies 5 * syndromic non-aneuploidic associations * Aicardi syndrome * Coffin-Siris syndrome * Cornelia de Lange syndrome * Fryns syndrome * hydrolethalus syndrome * Klippel-Feil syndrome * Meckel-Gruber syndrome * Smith-Lemli-Opitz syndrome 7 * Walker-Warburg syndrome * aneuploidic associations * Emanuel syndrome 12,13 * trisomy 18 * trisomy 13 * triploidy Case courtesy of Dr Ian Bickle, Radiopaedia.org, rID: 23241

Answer 37

* Developmental dysplasia of the hip * Increased joint laxity inutero * leads to abnormal joint congruity * this leads to hypertrophied fibrocartilage in the superlateral aspect of the acetabulum (NEOLIMBUS) * The femoral head is able to glide out of the acetabulum generating the palpable clunk - ortolani sign.

Answer 38

Results from inhalation of swelled materials or gastric content. Gastric acid damages capillaries causing acute pulmonary Edelman. Secondary infection or acute respiratory distress syndrome may ensure.

Answer 39

* the percentage of the femoral epiphysis convered by the acetabular roof. * \>50% is normal.

Answer 40

* Ataxia-telangiectasia is a rare multisystem disorder that carries an autosomal recessive inheritance, sometimes classified as a phakomatosis. It is characterised by multiple telangiectasias, cerebellar ataxia, pulmonary infections, and immunodeficiency. * On brain imaging, it usually demonstrates vermian atrophy, compensatory enlargement of the fourth ventricle, cerebral infarcts and cerebral haemorrhage secondary to ruptured telangiectatic vessels. * **Clinical presentation** * **The main clinical characteristics include:** * **cerebellar ataxia: progressive and present in all cases** * **oculomucocutaneous telangiectasias** * **greater susceptibility to types of infection (partial combined immunodeficiency 3) and neoplasms** * * * MRI MRI typically demonstrates cerebellar volume loss and compensatory enlargement of the 4th ventricle. Additionally, scattered small white matter T2 hypointensities are often identified in patients with ataxia telangiectasia, most likely representing tiny haemosiderin deposits related to thrombosis and vascular leaks from telangiectatic vessels 5,11. This imaging appearance can also be seen in amyloid angiopathy, disseminated intravascular coagulopathy and multiple cavernomas 6. “Gliovascular nodules” within the white matter have previously been described and consist of dilated capillary loops with perivascular haemorrhages and haemosiderosis, surrounded by reactive fibrosis and demyelinated white matter7. Diffuse T2/FLAIR hyperintense signal within the cerebral white matter consistent with demyelination and gliosis has previously been described in ataxia telangiectasia and may reflect ischaemia and white matter degeneration due to vascular abnormalities 11, severe oligodendrocyte and myelin loss 8, coagulation necrosis 9 and leukodystrophy 10. A recent study using MR spectroscopy of adult patients with ataxia telangiectasia suggests that the white matter T2/FLAIR hyperintense signal abnormality is secondary to reduced cellularity rather than active demyelination or ischaemia 11. Given that this is a case of an adult brain, the diagnosis of AT may elude the radiologist as patients with the classic form of AT usually do not survive beyond childhood. The presence of diffuse white matter T2/FLAIR signal abnormality and disproportionate cerebellar atrophy clinches the diagnosis of variant ataxic telangiectasia. Case courtesy of Danielle Byrne, Radiopaedia.org, rID: 50830

Answer 41

* Pulmonary Sling * AKA Anomalous origin of the left pulmonary artery * left PA arises from the right PA (not the Pulm trunk) * passes between the trachea and the esophagus as it courses to the left lung. * The resultant sling compresses the trachea. Pulmonary sling is the only vascular anomaly to course between the trachea and the esophagus. * It causes compression of the posterior trachea and anterior esophagus. * Only vascular cause of airway compression gthat is associated with asymmetric lung inflation on chest radiographs * Case courtesy of Dr Vincent Tatco, Radiopaedia.org, rID: 42323

Answer 42

* the kidney develops in 3 stages * **pronephros** (3rd week): tubules drain into an excretory duct that terminates in the cloaca * **Mesonephros** (4th week) serves as a precursor for * Male: vas deferens, seminal vesicles, ejaculatory duct * female: vestigial * **Metanephros**: 5th week: * ureteral bud develops from the mesonephric duct, the ureteral bud elongates, undergoes divisions and form real rubes while ascending along the posterior coelomic wall * at 12 weeks there are seven anterior and sever posterior renal lobes separated by a fibrous groove. * At 28 weeks the boundaries between renal lobes become indistinct * persistence of fibrous groove is evident after birth. *

Answer 43

Death 25% spastic hemipelgia or wadripelgia epilepsy. SDH is an indicatory of sustpectied AHT in sutural splaing Abusive head trauma is a term that is used for inflicted head injury that has occurred by either shaking, impact head trauma, or both, as part of the spectrum of non-accidental injury (NAI). Pathology Intracranial injuries Subdural haemorrhage in a child should be viewed with suspicion. Most often, the subdural haemorrhages will demonstrate varying ages. A potential pitfall is interpreting subdural hygroma in a patient with benign enlargement of the subarachnoid spaces (BESS) as suggestive of NAI without other stigmata 9. Case courtesy of Dr Tony Lamont, Radiopaedia.org, rID: 17753

Answer 44

* Sequestration TYPES * Intra lorbar (Syst ..., Pulm Venals Drainage) * Extra lobar (System ...., System Venous)

Answer 45

* Infantile hepatic haemangiomas (IHH) are liver lesions composed of large endothelial-lined vascular channels seen in fetuses and neonates. Not to be confused with hepatic epithelioid haemangioendothelioma, which occurs in older patients. * Terminology * These benign tumours were previously referred to as hepatic infantile haemangioendotheliomas, but as they are similar to haemangiomas elsewhere in the body, they have been reclassified as haemangiomas by the International Society for the Study of Vascular Anomalies (ISSVA). * Epidemiology * Infantile hepatic haemangiomas occur in fetuses and neonates and have been detected in utero as early as at 16 weeks of gestation. It is the most frequent liver mass in infants (\<6 months). * Clinical presentation * Infantile hepatic haemangiomas have substantial arteriovenous shunting which may lead to fatal cardiovascular compromise and hydrops fetalis. It may present as hepatomegaly since the entire liver is involved in most cases. * In addition, fetuses may also develop haemolytic anaemia, thrombocytopenia, and consumptive coagulopathy (Kasabach-Merritt sequence). * If these tumours are not detected prenatally, neonates may present with unexplained congestive heart failure. * Pathology * Infantile hepatic haemangiomas are histologically similar to haemangiomas (strawberry naevus) but distinct from both adult type cavernous haemangiomas which are venous malformations and angiosarcomas. * Markers * In 3% of cases, there is elevated serum alpha-fetoprotein 6. * Associations * hypothyroidism: probably due to high levels of type 3-iodothyronine deiodinase activity produced by haemangiomas 3 * haemangiomas elsewhere in 10% of cases * Radiographic features * Plain radiograph * Non-specific features such as hepatomegaly and liver calcifications, present in ~15% of the cases, may be seen. Indirect signs of congestive heart failure may be present on a chest radiograph. * Ultrasound * Infantile hepatic haemangiomas have a variable sonographic appearance and can be either hypoechoic or hyperechoic or may display mixed echogenicity with prominent vascular channels. Colour Doppler sonographic evaluation will show increased flow. * CT * There is typical peripheral enhancement with gradual filling-in. Another characteristic finding is a reduction in the aortic calibre (mid-aortic syndrome) distal to the level of the coeliac axis because of the important vascular distribution toward the liver. The same process will cause coeliac trunk and hepatic artery hypertrophy. * MRI * Multifocal haemangiomas are spherical lesions with homogeneous signal intensity on MRI. Large flow voids are usually present. Typical signal characteristics include: * T1: hypointense 3 * T2: hyperintense 3 * They generally demonstrate uniform enhancement and may demonstrate the same vascular changes as seen on CT. * Treatment and prognosis * The natural history of infantile hepatic haemangiomas in infancy is a rapid, proliferative growth phase in the first six months of life, followed by regression and involution. * If the child remains asymptomatic, no treatment may be needed. * If symptoms of high output cardiac failure occur, the first line of therapy is propranolol. If medical treatment fails, the lesions may be embolised to control any arteriovenous shunting causing cardiac failure. * Differential diagnosis * hepatoblastoma * elevated alpha-fetoprotein * not common in neonates * neuroblastoma metastasis: usually multiple * mesenchymal hamartoma (usually seen as multilocular cystic mass

Answer 46

* Case courtesy of Dr Wael Nemattalla, Radiopaedia.org, rID: 9227Most common phakomatosis (1:3000) * 50% AD, 50% spontaneuous mutations * Dusplaisa of mesodermal and neuroectoderma tissue. * Diagnostic Criteria * need \>2 * Cafe au lait spots x 6 * pigmented iris hamartomas x 2 * Axillary ngunal freckling * ? NF * Opti nerve gloma * First degree relative * Dysplasia of greater wing of sphenoid * Imaging features * Optic nerve gliomas * low grade pilocytic astrocytoma with variable enhancement * lower grade brainstem gliomas * non *

Answer 47

* Insp & Exp veins if child can comply * Decubitus if child can't comply * Bull valve mech * Air trapping in the effected lung

Answer 48

Porencephaly is a rare congenital disorder that results in cystic degeneration and encephalomalacia and the formation of porencephalic cysts. The term is used variably among radiologists with its broadest definition being a cleft or cystic cavity within the brain 9, and its more narrow definition being a focal cystic area of encephalomalacia that communicates with the ventricular system and/or the subarachnoid space. Terminology The necessity of a cyst communicating with the ventricular system and/or subarachnoid space to earn the designation porencephaly is a point of contention amongst neuroradiologists. Some authors use the term for cysts whether or not communication exists, and thus there is significant overlap with encephalomalacia. Others reserve the term for cysts that communicate with at least one space, in which case they divide porencephalic cysts into internal (communicating with the ventricle) or external (communicating with the subarachnoid space). Still, others require communication with both. For the purpose of this article, the term porencephaly is taken to mean the following: a cystic lesion of the brain due to an encephaloclastic insult (e.g. intrauterine infections and ischaemia), lined by white matter, which communicates with the ventricles and/or the subarachnoid space. Clinical presentation As can be expected from the knowledge that porencephalic cysts vary widely in size and location, clinical manifestations are also variable. Patients with porencephalic cysts range from asymptomatic, to profoundly impaired. Often signs and symptoms become evident in the first year of life, with spasticity and seizures being common early manifestations. Language impairment, intellectual disability, and motor deficits are also frequently encountered 10. Head circumference is variable. It may be normal or small, or alternatively, synechiae can create a one-way valve effect with progressive enlargement of the cyst and skull expansion or hydrocephalus, resulting in an enlarged head. Pathology Porencephalic cysts are an uncommon congenital finding. The cysts are typically lined by white matter. They are thought to occur from focal encephalomalacia due to a localised cerebral insult most frequently during early gestation. Gliosis will develop if the insult is late enough, usually thought to be after the start of the third trimester, although perhaps insults as early as 20 weeks of gestation may result in gliosis 11. Aetiology perinatal cerebral ischaemia trauma infection antenatal intraparenchymal haemorrhage 4 familial porencephaly: mutations in the COL4A1 gene (a COL4A1-related disorder) leading to fragile blood vessels causing antenatal/perinatal haemorrhagic strokes

Answer 49

* Shephards crook deformity

Answer 50

* Group of neuroectodermal disorders characterised by coexisting skin and CNS tumors * Common phakomatoses * NF * Tuberous Sclerosis * Von-Hippel Lindau disease * Sturge weber syndrome * Uncommon * Gorlin syndrome * Osler Weber Rendu disease * Ataxia telangiectasia * Klipple trenaunay syndrome * Blue rubber bleb nevus syndrome

Answer 51

formed by the acetabular roof to the vertical cortex of the ilium. This is similar to the measure ment of the acetabular angle. The normal value is greater than or equal to 60 degrees.

Answer 52

1. Letterer-Siwe Disease: dissseminated multiorgan disease, typically young children/infants less than one year old. Fulminant course with poor prognosis 2. Hand-schuller christian disease. Multiple lesions. Confinded to the one bone. 3. Eosinophilic granuloma. Lesions are confined to one organ system. Best prognosis.

Answer 53

* Location * Ovarian * Mature (aka ovarian dermoid cyst) * Immature * struma ovarii * Testes * Mediastinum * 27% of all teratomas in adults * 4-13 % of teratomas in children * Intracranial * Sacrococcygeal

Answer 54

Vein of galen aneurysm T2 weighted images from a fetal MRI demonstrate a large flow void in the region of the vein of Galen. The fetal heart is enlarged. Case Discussion This is an example of a vein of Galen malformation, diagnosed in utero. The enlarged heart suggests high output cardiac failure, a complication of these malformations. Case courtesy of Dr. Sheri L Harder, Radiopaedia.org, rID: 94385

Answer 55

* inherited condition involving the brain and spinal cord. * Primarily effects males. x linked * Leukodystrophy * Hypomyelination * Clinical presentation * hypotonia * nystagmus * Developmental delay (motor) * Developmental regression. * PLEASE ZEUS, GIVE MY MERCEDES BACK as it doesn't have any **pl**astic. * Pelizaeus-Merzbacher Disease is a rare leukodystrophy that results from an abnormality of PLP1 gene on chromosome Xq22 coding for proteolipid protein 1 and a smaller protein (DM20), two primary components of myelin. PMD has a "classic" form as well a more severe form known as "connatal" form. The classic form shows X-linked recessive inheritance, and patients usually present in first year of life with nystagmus, delayed motor and cognitive milestones, and ataxia. The connatal form shows either autosomal or X-linked recessive inheritance and usually presents at birth or in early infancy. In addition to nystagmus and extrapyramidal hyperkinesia, patients have spasticity, optic atrophy and seizure. Patients with classic form usually live until late adolescence or early adulthood, but in connatal form, death usually occurs in early childhood. There is a group of patients with similar clinical presentation but normal appearing white matter at biopsy and on MRI and no evidence of mutation of PLP1 gene. These group of patients are considered to have Pelizaeus-Merzbacher-like disease. Key Diagnostic Features: PMD appears as low signal intensity white matter on CT scan, and on MRI, it appears as lack of myelination as opposed to myelin destruction. Depending on the severity of the disease, there might be some myelination within internal capsules, optic radiations and proximal corona radiata. In severe cases, there could be complete absence of low T2 signal intensity within the white matter. The cerebellum may be markedly atrophic. MRI cannot differentiate classic form from connatal form although it has been noted that some degree of myelination is seen in patients with the classic form, whereas no evidence of myelin is seen in connatal form. * http://www.ajnr.org/content/cow/04042011

Answer 56

* CF * Recurrent aspirations * Hypogammablobulinema (Bruton disease) * Hyperimmunoglobulinemia E (Buckley syndrome) * Immobile cilia syndrome (Katagener syndrome) * BFM

Answer 57

* any part of the body can be affected. * Can spontaneously regrees to or rapidly progress.

Answer 58

Chest wall mesenchyma hamatoma

Answer 59

ddx microcolon * mec ileus * ??? ileal atresia * Hirschsprungs

Answer 60

Recurrent infection Lung abscess Bronchiectasis Heamoptypsis during childhood.

Answer 61

* Wilms tumours aka nephroblastoma

Answer 62

* Ultrasound images demonstrate a pyloric muscle wall thickness of 4 mm. The pyloric channel length measures 13 mm. The stomach is distended with fluid. This combination of findings is consistent with hypertrophic pyloric stenosis. * Sonographic diagnostic criteria include single muscular wall thickness (hypoechoic) of 3 mm or greater and/or pyloric length of 15 mm or greater. * Real-time ultrasound can show failure of gastric contents to pass through the pyloric channel; however, this finding can be seen in pylorospasm. Right lateral decubitus positioning may be useful to visualize the pyloric area. * Hypertrophic pyloric stenosis refers to gastric outlet obstruction resulting from abnormal thickening and elongation of the pyloric sphincter musculature. * Usually presents between 2 weeks and 12 weeks of age with projectile nonbilious emesis. On physical exam, the thickened pyloric channel can present as a palpable mass with the size of an olive. * Radiographs usually demonstrate “single bubble sign," which represents distention of the stomach with a paucity of bowel gas.

Answer 63

Lymphatic malfor mation

Answer 64

* CHAOS * constellation off ffindings resulting from this form of airway obstruction. * in utero laryngeal atresia * subglottic stenosis * head and neck masses obstrucitng the upper airway (lymphatic malformations or teratomas) Imaging findings: * massive increases in lung volumes, * flattened or everted hemidiaphragms * hydrops * polyhydramnios

Answer 65

* DEFINITION * relatively common benign and asymoptomatic lesions occurriong in associated with the CNS. Can be intracranial or in the spinal canal. Usually located in the Subarachnoid space and contain CSF. * IMAGING * Well circumscribed cysts with an imperceptible wall, displacing adjacent rstructures and have CSF pattternan MR signal. Can have a remodelling effect on adjacent bone. * EPID * 1% of all intracranial masses * usually sporadic * can be seen in mucopolyusaccharidoses. * male prediliction. * CLINICAL PRESENTATION: * 5% of patients experience symtoms, usually secondary to gradual enlargement resulting in mass effect. neurological dusfunction or distortion of normal CSF pathyweays

Answer 66

* 1.5-20 per 1000 births, * the majority of abnormal hips relsove spontaneously within 2-8 weeks (ie 'immature hip'). * Risk factors: * Female (1:8) * first born baby * amily hx * breech presentation * oligohydramnious * metatarsus adductus * spina bifida.

PAEDIATRICS 1 Flashcards

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