Short cases Flashcards

Question

Enlarged kidney CHARTS

Answer 1

``` Cystic (ADPKD, ARPKD) Hydronephrosis Adrenal Renal V thombosis Tumour - wilms, neuroblastoma, RCC ```

Answer 2

Cardiac - cyanotic Resp: Suppurative lung disease - CF, bronchiectasis Gastro - CLD, IBD Thryoid - acropachy (hyperthyroid)

Answer 3

Splenomegaly Portosystemic shunts - varices, haemorrhoids, caput medusae Ascites, low albumin Causes - Pre hepatic- portal V thrombosis - Heptatic: cirrhosis, A1AT, CF, Biliary atresia, neonatal hepatitis, VOD - Post hepatic: Budd chiari (hepatic V obstruction), constrictive pericarditis

Answer 4

``` CF Recurrent infections/aspirations Severe pneumonia (TB, adenovirus) Immune deficiency Primary ciliary dyskinesia Foreign body Congenital airway anomaly ```

Answer 5

``` Dysdiadokinesis Ataxia Nystagmus Intention tremor / past pointing Speech Hypotonia ``` Cerebellar signs are ipsilateral to side of lesion

Answer 6

simple - unilateral enlargement of one limb complex- 1/2 body enlarged - Beckwith - Wiedman - Russel silver (hemihypoplasia) - Klippel - trenaunay weber (triad of vascular malformation - venous malformation, abnormal lymphatics, - more localised) - NF1 - Isolated hemiherplasia - assoc wilms - Proteus syndrome Exam Look for birthmarks, vascular malformation, CALM Growth (short -RSS, tall - BWS) Associated tumours - Wilms, hepatoblastoma, gonadal, neuroblastoma (with BWS) Neuro - hemiatrophy in hemiplegic CP ; Gait Hands and feet together, touch toes (scoliosis), palms exposed. Check growth, HC, weight, BP BWS - overgrowth, methylation defect 11p15.5 - macroglossia, hemihypertophy, omphalocoele, hypoglycemia (secondary hypperinsulinism) - Naevus flammus forehead, abnormal ear helix and crease. Cardiomegaly - Risk tumours (films, hepatoblastoma, GCT, neuroblastoma) - US surveillance every 3/12 until 8 in high risk RSS - small stature, triangular face, apparent macrocephaly, blue sclera, 5th finger clinodactyly, hemiatrophy Risk Wilms ; UPD Ch7 in 10% Cafe au lait macules

Answer 7

Hx diagnosis - initial symptoms, treatment, complications of treatment ; parents attitude to diagnosis Parental understanding of prognosis Impact on family, siblings, marriage, finances Current status - how long post treatment ; central line - complications - infections, anaemia - prophylaxis and compliance ; mouth cares - SE from treatment - Infections : VZIG within 96hours VZV, IVIG for measles - Impact ADL - Growth and development - School - Immunisation status, any immumnosuppresives Late effects and GVHD Late effects - short stature (RT, hypo pit, hypothyroid) - Eyes - cataracts (TBI, steroid) - Ears - hearing impairment (RT, cisplat, gentamicin) - Steroid SE and metabolic syndrome - Psychological - mood, memory, attention, IQ - Puberty - Fertility - any fertility preserving measures - Cardiac (anthracyclines, RT ; use dexrozoxane ; regular ECHO) - Bone health - Peripheral neuropathy (vincristine) - Secondary tumours - RT, alkylating agents, etoposide Social issues, school issues

Answer 8

Congenital - midline defect (holoprosencephaly), -SOD (sept-optic dysplasia) - triad of 1. optic nerve hypoplasia, 2. pituitary hypoplasia, 3. midline brain abnormalities (absent septum pellucid and agenesis corpus callosum). Mostly sporadic ; Neuro compl, endo comp wandering nystagmus, visual impoairment Assoc obesity, temp instability, OSA, ASD - genetic (CHARGE - CHD7 mutation, PROP1 mutation, Kallman) Later / acquired - craniopharyngioma: triad 1. endocrine hypofunction - (growth F, hypothyroid, DI), 2. eyes (bitemporal hemianopia), 3. headache Rx transphenoidal surgery, RT (become panhypopit post Rx) - cranial RT, (affects anterior pit) - trauma (TBI)

Answer 9

- Diagnosis, complications, treatment - cognition, development and school - growth and puberty - learning / behaviour issues - Vision - Neuro symptoms (SOD, holopros) symptom screen for each pituitary hormone ``` Impact Education, treatment Management Hypos Emergency steroid plan, stress dose - IV hydrocortisone, IV fluid bolus + IV dextrose - increase steroid if taking P450 inducers and during pregnancy Management DI (DDAVP, monitor Na) Puberty and growth - GH treatment - Pubertal induction treatment males testosterone IM monthly girls - oestrogen Micropenis treat with testosterone ``` Rx with glucocorticoids before thyroxine (risk causing adrenal crisis)

Answer 10

Prenatal screening (detects cell free fetal DNA/RNA in maternal blood) non disjunction trisomy 21 in 95% ; 3-4% Ch 14/21 translocation (robertsonian) - recurrence risk 12% if mum carrier, 1% if dad carrier 2% mosaic Hx Diagnosis, symptoms at birth, initial issues (Resp, feeding, CVS), any gut/surgical issues Initial investigations ; genetic counselling; Karyotype Treatments: Surgical / medical Hospitalisations / complications Impact on child - school, ADLs, school funding Impact family - financial, further kids, guardianship Cardiac - 30-50% cardiac issues. ECHO birth + 6 weeks AVSD (45%), VSD (35%), ASD PDA, TOF Echo ; risk of pulmonary HTN ++ (early surgical repair) If unrepaired CHD - risk CVA and brain abscess. Adults may get mitral valve prolapse and AR even if no history CHD Subtle immune deficiency - recurrent URTI/LRTI Predisposed to autoimmune conditions - hypothyroidism (15% DS) ; congenital hypothyroid 1/140 - coeliac disease (5-7%) - DM, malignancies (leukaemia) Chronic OME, dental issues Joint and MSK issues 15% AAI due to excessive mobility of C1 on C2, only 2% symptomatic as result subluxation / cord compression - neck pain, new continence issues, difficulty walking/weakness Hip instability 1-7% Foot issues Hearing - 50-80% hearing loss, CHL, SNHL, mixed chronic OME ++ common, grommets, T/As SLT for hearing aids Eyes/vision 50% ocular impairment - refractive errors, strabismus, nystagmus, cataracts. Cognition and development delay gross motor milestones due to hypotonia and joint laxity, average walking 2-4years Most have mild (IQ50-70) - Mod (35-50) ID (average developmental age 5.5) Language milestones slower to develop than others Neurodevelopmental issues ADHD (6%), Aggressive / oppositional behaviour ASD dual diagnosis (7%) seizures (8% - 2 peaks, 1st year life, in 20s) 75% alzheimers by >60yrs Depression (outrule hypothyroid) Growth and weight High risk obesity Dental Hypothyroid Haematological - Neonates - polycythemia and macrocytosis - transient myeloprolif in 10% (regress by 2-3months, mutation GATA1, 20% with TAS will develop AML in first 4 years life -Leukaemia (15-20x increased risk) AML and ALL (1/300) - better outcome for AML in DS Chemo sensitive, dose reduce GI - 7% GI defects ; Hirscsprung, duodenal atresia Coeliac Skin - palmoplantar hyperkeratosis 40% Adolescents 50% keratosis pillars (follicular rash) fungal skin infections

Answer 11

RVH RV1: >5squares <1mo ; >4squares <1year ; >3squares >1yo SV6: >3sq <1mo ; >2sq <1yo ; >1sq >1yo Also RAD, upright T V1 ; qR V1 LVH: RV6: >3sq <1mo, >4sq <1yo, >5sq>1yo SV1: >1sq <1mo, >2sq <1yo ; >3sq>1yo Also LAD, flat/inverted T waves I/AVF

Answer 12

Cyanosis - growth/puberty/acne/exercise Complications surgery - shunts: malfunction, protein losing enteropathy (Fontana) - Stenosis / regurgitation / CHF / heart block - Operative issues: RLN palsy, Horners, diaphragm issues CNS complications - stroke (SBE/post op/ polycthemia) Drug complications: Anticoags

Answer 13

Chylothorax and pleural effusions Protein losing enteropathy Stroke Cerebral abscess

Answer 14

1. Cerebellar Congenital: - Structural: Dandy walker malformation, chair - spinocerebellar degenerative: AT, FA(Freidreichs ataxia) - Metabolic ; other degenerate Acquired - Infectious; Acute cerebellar ataxia (post VZV) ; Miller fisher GBS - Toxins: Alcohol, phenytoin - Tumours: Medulloblastoma, neuroblastoma - Stroke / migraine / seizures 2. Vestibular: acute labyrinthitis (middle ear infection) 3. Posterior column loss - Subacute combined degenerative cord (B12 def ; absent ankle jerk, dorsal column loss) - Ataxia telangiectasia - DM, hypothyroid ``` 4. Peripheral neuropathy (DAM IT BICH) Drugs (vincristine) ; Alcohol Metabolic (DM, CRF) Infective (GBS), tumour, B12 def ; Idiopathic CTD (SLE), Hereditary (HSMN) ```

Answer 15

Observation Looks at shoes - any wearing, any AFOs ``` Inspection legs (WANGP) wasting/fascicultations ; abnormal movements ; neurocutaneous stigmata, growth arrest, posturing ``` Any deformities or scars Spine for scoliosis and scars ``` Review gait walk normal, heel to toe ; turn quickly walk on toes(S1) ; walk on heel(L5) FOG test (unmask hemiplegia) Run Squat ``` Romberg - +ve eyes open - cerebellar ; +ve eyes closed (propricoptive loss) Check for pronator drift Squatting, towers, leg length discrepancy

Answer 16

Cardiac - cyanotic cardiac disease Resp - suppurative lung disease (CF, bronchiectasis, PCD) GI - CLD, IBD Thyroid - thyroid acropachy (hyperthyroid)

Answer 17

hypersplenism - thrombocytopenia function asplenism - susceptible encapsulated organisms splenic infarction (SCD) - painful Early satiety / reduced appetite

Answer 18

``` Cafe au lait >6 Axillary/inguinal freckling Lisch nodules (2+) / Long bone dysplasia Neurofibromas (2+) Optic pathway glioma Plexiform neurofibroma (1+) ``` Others First degree relative Distinctive osseous besoin - sphenoid wing dysplasia

Answer 19

Complications - Skin CAL - Tumours - optic glioma, plexiform neuro (MPNST) - bones - dysplasia , scoliosis - Growth - short stature, macrocephaly, precocious puberty - Seizures - HTN (idiopathic, renal artery stenosis, phaeo) - Developmental delay

Answer 20

Inspection - front/above/side - any neurocutaneous stigmata, HC, dysmorphic, ptosis (congenital vs acquired) Lids/iris / lens - glaucoma/cataract Squint - Heterophoria (latent squint - when tired) - Heterotropia ( permanent squint) - ESO (convergent), EXO (divergent) - Paralytic ( related to issue EOM weakness/CN palsy) - non paralytic If concern hyperthyroidism - lid lag ``` Visual acuity - infant toy, preschool E chart, school - snellen External eye movements Ptosis Visual fields - bitemporal hemianopia - pituitary / optic chiasm - homonymous hemianopia - optic tract - upper quadrant - temporal - Lower quadrant - parietal Convergence Pupils and Pupillary reflex Fundoscopy / red reflex ```

Answer 21

``` Inspection ; - spine/scoliosis - asymmetry /hemihypertropyh / leg length discrep Gait - normal - heel-toe (from 5 yrs) - up on toes (S1) - up on heels (L5) FOG test (walk outside of feet) - unmask hemiplegia Run Rombergs - eyes open (cerebellar) - eyes closed (posterior column) Squat (prox weakness) / Gowers Neuro exam ```

Answer 22

impairment of lateral conjugate gaze ; get failure of adduction in affected eye and contralateral eye abducts with nystagmus if right eye affected, get diplopia on looking left Caused by lesion in medial longitudinal fasciculus Seen in MS, stroke

Answer 23

impairment of levator palpebral superioris Horners (ptosis/meiosis/annhydrosis) Large pupil - CN3 palsy (tumour, vasc, MS) bilateral with fatigue - NMJ disorder (MG)

Answer 24

``` Brainstem - vascular, tumour, möbius, demyelination Posterior fossa - acoustic neuroma Cranial nerve - GBS, bells, Ramsay hunt NMJ - MG, botulinism Muscle - MD, FSHD, myopathy ``` Moebius - CN 6 and 7 palsy CN palsy investigations - MRI brain/spine ; LP

Answer 25

2+ of the below 1. CAL macules (6 or more) >5mm prepubertal or >15mm post pubertal 2. Axillary or inguinal freckling (age 5-8) 3. Lisch nodules (2+, usually appear 5-10years ; all adults) 4. Neurofibroma (2+) or 1+plexiform neurofibroma 5. Optic Pathway glioma (15-20% NF1, mostly <7years ; most asymptomatic, Rx chemo Carboplat and vinc) 6. Plexiform neurofibroma - seen 50%, (risk progression to MPNST) 7. distinctive Osseous lesion - sphenoid wing dysplasia, long bone bowing with pseudoarthosis 8. First degree relative with NF1 Genetics - Autosomal dominant ; Ch 17q11.2 ; germline mutation in NF1 suppressor gene, codes for neurofibrin (negative regulator of RAS protoncogene - controls cell growth) 1:3500 people 50% patients have no family history (de novo) Clinical diagnosis, rarely need genetic diagnosis Complete gene deletion - poorer prognosis

Answer 26

1. Tumours 2. Hypertension - renal vascular disease, renal artery stenosis Coarctation, phaeo 3. Scoliosis - appears 6-10yrs 4. MPNST - adolesence (PET scan), 10% 5. Malignancy risk (7xleukaemia risk, 6. Pulmonary valve stenosis 7. Vasculopathy - moyamoa 8. IQ and behaviour - 30% ASD features,

Answer 27

Hx - cognition and development ; speech/hearing School Hx ; behaviour Vision / opthal reviews Growth and centiles, puberty. Asymmetry (whole gene) Neurofibromas and Rx ; skin MSK - bone, scoliosis HTN - cause and Rx ; vasculopathy / Neuro symptoms Cardiac - PS, HOCM ``` Monitoring Skin Vision - OPG highest risk <6 ; 15% have OPG Learning and behaviour, development Self esteem Scoliosis and osetoporosis HTN - renal US and 24hr urine catecholamine Genetic counselling (AD) ```

Answer 28

Somatic mutation GNAQ, gain function mutation Triad - PWS V1, leptomeningeal angiomas, glaucoma ``` Complications Stroke like episodes / hemiplegia Epilepsy, developmental delay Glaucoma (2/3 have congenital glaucoma) - risk lifelong, Cognitive impairment in 80% (50% ID) Behaviour and emotional issues Migraines / headaches Body asymmetry - hemihyperplasia (overlap with KTW) Endo: central hypothyroid, GH deficiency ``` ``` Mx Seizures - AED PWS - pulsed dye laser Aspirin to reduce risk stroke Glaucoma Rx ```

Answer 29

Multisystem disorder, characterised by tumor like growths (hamartomas) in multiple organs • Incidence: 1 in 5800 • Dominantly transmitted ; High incidence of spontaneous new mutations (up to 75%) Two genes associated • TSC1 – 9q34 – hamartin (20%) • TSC2 – 16p13 – tuberin (60%) • TSC2 more severe phenotype but considerable overlap Loss MTOR inhibition - cell growth/proliferation

Answer 30

• Genetics: Genetic testing and family counseling • Brain – SEGA monitoring • MRI of brain every 1-3 years in asymptomatic <25y • Those with large/growing SEGA more freq • Educate re signs of raised ICP • Surgical resection for acutely symptomatic SEGA • Surgical or Medical treatment (mTOR inhbitors) for growing but asymptomatic SEGA – Screen for TSC associated neuropsychiatric disorders • Implement evidenced based management for autism/ADHD/anxiety • Sudden change in behaviour think SEGA/seizure/renal disease – Epilepsy • Obtain routine EEG in all with known or suspected seizures. Vigabatrin first-line for spasms • Established antiepileptics as per epilepsy of any cause for other seizure types • Epilepsy surgery should be considered for medically refractory epilepsy • Kidney – Obtain MRI abdomen to assess for progression of angiomyolipomas and renal cystic disease every 1-3 years – Assess renal function and BP annually – Embolisation followed by corticosteroids first line for angiomyolipoma presenting with acute haemorrhage. Avoid nephrectomy. – Asymptomatic, growing angiomyolipoma >3cm treat with mTOR inhibitor, selective embolisation second line • Lung – Clinical screening for LAM (exertional dyspnea) – Lung function tests and 6 minute walk test for females 18y+, males if symptomatic – Counsel regarding smoking and estrogen risks – HRCT every 5-10 years in asymptomatic – Those with lung cysts – annual pulmonary function and HRCT 2-3 yearly – mTOR inhibitors for mod-severe lung disease or rapid progression – Are candidates for lung transplant • Skin – Exam annually – Disfiguring lesions Rx with surgical excision/ laser/topical mTOR inhibitors • Teeth – Detailed dental review every six months – Panoramic radiographs by 7 years – Symptomatic / deforming lesions treated • Heart – ECHO every 1-3 years until regression documented – ECG every 3-5 years • Eyes – Annual eye exam in those with identified lesions or visual symptoms at baseline – Periodic examination if on Vigabatrin treatment

Answer 31

Genetic diagnosis Clinical diagnosis - 2 major or 1 major and 2 minor ``` Major criteria 4 brain - SEGA, - SENA, - cortical dysplasia -multiple retinal hamartomas 4 skin - SHAU - Shagreen ptaches (50%, first decade) - hypomelanocytic macule >3 which are >5mm - birth on - Angiofibromas >3 (age 2-5yrs, >75%) - Ungal fibroma >2 (adolescence) 3 others - lung/heart/kidney - LAM - women in 30s, HRCT and 6min walk test - Renal Angiomyolipoma - Cardiac rhabdomyomas ``` ``` Minor • Confetti skin lesions • Dental pits (>3) • Gingival fibromas (≥2) • Retinal achromic patch • Multiple renal cysts • Non-renal hamartomas ```

Answer 32

``` Diagnosis, genetics Seizures Cognition, learning Development Behaviour Cardiac Eyes / Lung / Renal If on Vigabatrin need eye screen SE Everolimus - elevated cholesterol & TG, transaminitis, leucopenia. Therapeutic monitoring Interacts with AEDS - P450 inducers (carbamazepine) decrease levels. ```

Answer 33

Parents must be examined and educated regarding risk to future pregnancies Age 0–8 years: • Annual examination for long bone bowing, asymmetry, scoliosis, hypertension • Developmental, growth and head circumference assessment • Annual pediatric ophthalmologist examination Age 8–15 years: • Examination looking for scoliosis, limb asymmetry, neurofibromas • Review school performance looking for learning disabilities and attention deficit and psychosocial evaluation • Discuss NF and the affect of puberty on NF Age 16–21 years: • Examination for neurofibromas. Imaging studies to evaluate any complaints of pain • Review knowledge of NF, school performance, socialization, and self-esteem • Discuss inheritance of NF1, and risk for pregnancy • Discuss the effects of puberty, pregnancy, and birth control pills on NF Age >21 years: • Examination, blood pressure check • Imaging studies to evaluate any complaint of pain • Discuss cutaneous neurofibromas, pain, and the risk of cancer • Discuss socialization, and career/jobs

Answer 34

AR, mutation ATM gene AFP raised - Ataxia / cerebellar dysfunction (onset usually 1-4yrs) - Oculomotor apraxia - Telangiectasias: Sclerae & sun-exposed area's such as ears and nose (age 3-10) - Primary Immune Deficiency ▪ Sinopulmonary infections ▪ Pulmonary Disease: Bronchiectasis and ILD - Cancer Predisposition ▪ Leukaemia (T-cell ALL and T-PLL) and lymphoma - Insulin-resistant diabetes

Answer 35

Unilateral nystagmus - Needs MRI to outrun tumour INO - failure adduction affected eye with nystagmus of abducting eye. Due to pathology in brainstem affecting medial longitudinal fasciculus Describe - Pendular (same velocity each direction) - Jerk (quicker in one direction - slower movement represents the pathology) - Horizontal/verticular Congenital nystagmus - related to visual conditions, usually bilateral, conjugate and horizontal Acquired - Cerebellar - Labryinthine - Medications Peripheral - pointed same direction, resolves with fixation Central - change direction with change gaze, no change with fixation Spasmus nutans (infants 4mo-3years) - head nodding, nystagmus, head tilt

Answer 36

Central (Floppy strong) - UMN disorder - Hypotonic CP (HIE) ; TORCH - Brain malformation - Syndrome - T21, PWS - Metabolic - smith lemli optik, zellweger Peripheral (Floppy weak) - Anterior horn - SMA - NMJ - congenital MG - Muscle - congenital myopathy, myotonic dystrophy

Answer 37

Ischaemic stroke - Cerebral arteriopathies (50-70%) - Cardiac causes - Thrombophilia - Sickle cell - sepsis Haemorrhagic - Vascular abnormalities - AVM, aneurysm

Answer 38

Identify barriers - SEs / complications - Education - Simplify regime, involve child, avoid school meds - Reminders - Positive reinforcement, negotiate short term goals - Increase adolescents autonomy over health - written and oral instructions

Answer 39

``` Benign intracranial hypertension Type 2 DM OSA Increased risk malignancy Worsening scoliosis SUFE ```

Answer 40

``` GH deficiency - proven on 2 bloods + GH stim test abnormal (GH<5 on 2+ tests), height velocity <25th centile, normal bone age (<14girls, <16 boys) image pituitary, outule malignancy ``` Aim: height V >50th centile or increase >2cm per year, bone age<14 girls, <16boys Short stature without GH def: height <3sd below mean height age height velocity <25th centile no chronic disease, no skeletal dysplasia, no malig Renal failure (height <2sd below mean, HV <25thcentile) Turners (monitor and rx hypothyroidism) Prader willi - outrage OSA, obesity and T2dm, be >2yrs Other following pituitary surgery (tumour resection) - IGF >1sd below mean, GH def, low QOL

Answer 41

Craniopharyngioma - endocrine hypofunction, headache, VFD: bitemporal hemianopia CHARGE - AD, CHD7 mutation Radiotherapy Acquired brain injury (including HIE) Septo-optic dysplasia- Triad of 1. ON hypoplasia, - blindness (wandering nystagmus) 2. Hypoplasia pituitary, (def GH>TSH>ACTH>GnRH>DI) 3. Midline brain abnormal (absent septum pellucidum, genesis corpus callosum) Others assoc: OSA, ASD, obesity, temp instability Holoprosencephaly (malformation forebrain) Order of hormones affected GH ; TSH ; ACTH ; GnRH Replace glucocorticoid before thyroid hormone as risk adrenal crisis

Answer 42

``` Inspection Cognition US:LS - elevated in Marfans, klinefelters along with wing span Symmetry ; tanner staging Scoliosis Wrist/thumb sign - Marfans Beighton score if hypermobility Mention split lamp for lens dislocation BP ```

Answer 43

Microvascular - Retinopathy (and cataracts) - screen annual from 12yrs) - Nephropathy (screen with UACR), monitor BP - Neuropathy - foot sensation) Macrovascular - CAD, peripher Vase disease ``` Assoc Coeliac (3-5%) Autoimmune thyroid (hashimotos ; hypothyroid) 3%pt Lipid disorders - Screen lipids Addisons ```

Answer 44

``` Autosomal domimant JAG1 genemutation (90%), notch 2 gene mutation ``` Intrahepatic biliary hypoplasia Cardiac: Peripheral pulmonary stenosis, TOF Butterfly vertebrae Eyes - posterior embryotoxin Facial: Deep set eyes, pointed chin, wide forehead, prominent nose Renal abnormalities

Answer 45

Renal - CKD, Nephrotic Liver - CLD (albumin) Bowel - PLE (stool A1AT), IBD, CF Nutritional - protein/calorie malnutrition Local causes - lymphadenopathy Drugs - steroids. calcium channel blockers Non pitting oedema - Lymphoedemea - Myxoedema

Answer 46

Dysmorphic Growth HC x 3 ; ask for parents HC (average adult 56cm) ``` Palpate - shunt, fontanelles, sutures Eyes (LR palsy CN6 increased ICP ; upward gaze palsy - Parinaud) Spine - ? spina bifida Skin - neurocutanoeus <2 - developmental, >2 Neuro exam (UL, LL, Cerebellar) bone, abdomen(HSM) ``` Ddx 1. Large bones - achondroplasia, rickets, OI 2. Large brain - SOTOS, - Neurocutaneous: NF1, TS, SWS ; - Metabolic (MPS) - Cerebral tumours 3. Hydrocephalus - Communicating (impaired CSF absorption) - post meningitis, bleed - Non communicating / obstructive: aqueduct stenosis, posterior fossa tumours - Dandy walker malformation - cystic enlargement of 4th ventricle and posterior fossa

Answer 47

Congenital (Pre-natal) 1. Brain malformation - lissencephaly 2. Syndrome/chromosomal - Cornelia de lange, angelmans, T21, Fanconi 3. Hereditary 4. Metabolic Acquired (Post natal) 1. TORCH 2. FASD 3. Endo - hypothyroid, hypo pit 4. malnutrition 5. HIE, meningitis Exam - inspection - HC, other growth ; check if Hx preterm - check hearing and vision

Answer 48

AR disorder FXN gene on Ch 9, triplet repeat GAA ``` Age 5-15 onset Absent knee jerk but upgoing plantars Pes cavus Ataxia, Rombergs positive Loss vibration/proprioception, distal sensory loss Cerebellar dysarthria ``` Optic atrophy Hyperglycemia, risk T1DM Cardiac - HOCM

Answer 49

CMT 1A - demyelinating CMT2 - axonal CMT1a - PMP22 gene duplication Distal calf atrophy (champagne bottle leg), pes cavus, hammer toes Loss reflexes

Answer 50

NTD (issue first trimester; failure closure D17-28) Pregnancy Hx: RF NTD - AEDs, nutritional, genetic Folic acid supplementation, prenatal diagnosis If mum has child spina bifida, 3x risk in future pregnancy ``` Diagnosis and early management Childs function / ADLs and self help skills Bowel care Bladder care Education -? cog impair ``` Comp CNS 1. Hydrocephalus - ? shunt - 90% Arnold chiari 2 (displacement of cerebellar tonsils and vermis through Forman magnum, caudal displacement of medulla and spinal cord, risk compression of brainstem causing cerebellar dysf, CN palsy, hydrocephalus - Symptoms - swallowing issues, aspiration, dysarthria, OSA, stridor/abnormal cry, spasticity UL - Issues with shunt 2. Syringomyelia - cavity of central canal spinal cord, assoc with scoliosis, lower limb weakness and deformities. 3. Scoliosis - congenital / acquired due to syrinx / shunt dysfunction / tethered cord. 50% MMC have scoliosis 4. Tethered cord- requires surgical intervention in 1/3, usually during growth spurts such as adolescence - Gait changes, lower limb pain, change in motor or sensory function, new orthopaedic / foot deformities Inx MRI, Rx surgery (outrage syrinx/shunt dysfunction) Cognitive disability - issues maths, attention - 80% normal IQ but issues maths, executive function Urinary issues - UTIs, reflux, CKD Bowel issues Ortho - feet/hips/spine 6Ss - spine/skeleton - spine/hip surveillance, talipes (50%) ; if progressive foot deformity Ddx syrinx / tethering - SDB - seen in 20%, need sleep study if level above t10 - Skin - sensory level, pressure sores, review equipment - Senses - check vision and hearing - Size - growth and puberty - Seizures (15-20% patients) Issues adolescence - mood, dependence, self care - Fertility/relationships Females with level below L3 have vulval sensation and can have orgasm, normal fertility Discuss contraception, folate supp if planning pregnancy, risk 1/20 for child spina bifida Males - 70% get erections, 50% ejac; 20%orgasm ; many infertile males LATEX allergy - 500x risk due to early exposure Management points Motor disability and mobility devices, contractors, skin pressure sores Bladder management ; worsening bladder control often indication of tethered cord/syrinx/shunt issue Oxybutinin (antichol) and intermittent catheter If issues with catheters - ? mitronfanoff ; ? bladder augmentation ; urodynamics once old enough Rx UTIs, monitor for CKD (regular renal US) - 5-10%pt CKD mineral bone disease - risk fractures Bowel issues - Rx constipation, rectal emptying Consider irrigation system (Peristeen) / MACE

Answer 51

1/2500 females Total or partial loss X chromosome 45X (50%), others mosaic ; variable phenotype Birth - lymphedema hands/feet, short and webbed neck Dysmorphic features: epicanthal folds, abnormal ears,neck webbing, short stature, low posterior hair line, wide spaced nipples, shield chest, hyper convex nails, wide carrying angle, madelung deformity, shortened 4th metacarpal, multiple nevi Complications - CVS: elongated transverse aortic arch ; 16% bicuspid AV, risk AS/AR, 11% have coarctation ; risk PAPVR Risk aortic root dilation - needs monitor, ++risk with pregnancy. Screen with ECHO/MRI every 5yrs Monitor for HTN - Vision/hearing: Recurrent OME - combo CHL and SNHL Risk strabismus, ptosis, cataracts, epicentral folds. ? hearing aids or glasses -Renal: 1/3 kidney issues - horseshoe kidney , duplex collecting system. Risk recurrent UTIs Screen with US every 5yrs. Monitor for HTN - Short stature (SHOX def) - GIT: Risk coeliac (5%, screen every 2 years), IBD ; increase LFTs 40% - Hypothyroidism 10-30% (Hashimotos), annual TFTs from age 10 - Puberty (1/3 enter spontaneous puberty), 3% spontaneous periods >90% have gonadal failure Pubertal induction at 12-14 ; Pelvic US prior - growth - plot of TS specific chart; Rx with growth hormome - Dental issues - high palate and dental overcrowding - Risk obesity and T2DM - Bone health (improves with GH and oestrogen ) - scoliosis, hips, arthritis Psychsocial/Education - ? issues cognition ; maths ; social - Behavioural issues - Bullying - Speech issues - Fertility discussions If Y chromosome present - risk gonadoblastoma, prophylactic removal gonads

Answer 52

LMN signs in the upper extremities and UMN signs in the legs, bladder dysfunction, and loss of sensation caudal to the lesion. There may be considerable recovery, particularly in the lower extremities.

Answer 53

CMT1A most common (demyelinating) -CMT1a - AD, presents with distal weakness, sensory loss, absent DTR, per caves and hammer toes. Due to PMP22 duplication Delayed motor and sensory conduction studies - CMT2(axonal) Symptoms/signs inverse champagne leg appearance due to muscle wasting, foot drop (due to weakness of dorsiflexion) PES CAVUS and hammer toes Can involve upper limbs too (less than LL) May have palpably enlarged nerves (popliteal/tibial) High stoppage gait Risk hip dysplasia and scoliosis Use AFOs

Answer 54

Ascending paralysis (AIDP) Post infectious polyneuropathy - Symmetric ascending paralysis (LL>UL) ; weak+flaccid - Loss reflexes Risk bulbar involvement in 1/2, respiratory compromise 10-15% require ventilatory support MFS(ataxia, ophthalmoplegia, Areflexia) Autonomic signs - HR/BP instability, constipation, urinary retention LP - elevated CSF protein (1/3 N if done first week) MFS - IgG Ab to Gq1b MRI brain and spinal cord - thickening of Cauda Equina Rx IVIG or PLEX 10% go on to need repeat IVIG 7% go on to develop CIDP (>2 relapses >8weeks apart)

Answer 55

Stroke ``` Stroke mimics • Todd’s paralysis • ADEM (Acute Disseminated EncephaloMyelitis) • Mass lesions, eg. Neoplasms • Trauma (NAI) • HSV encephalitis • PRES (Post. Reversible Encephalopathy Syndr.) • Complicated migraine • Metabolic eg.MELAS (Mitochondrial) ```

Answer 56

CP: Prematurity - PVL Dopa responsive dystonia - median onset 6yrs, diurnal variation Tethered cord / spinal cord ischaemia Vit E deficiency Ask about bladder bowel Any upper limb involvement Birth Hx, prematurity

Answer 57

Patients may have cerebellar disease, posterior column dysfunction, and retinal disease. Loss of deep tendon reflexes is usually the initial finding. Subsequent manifestations include limb ataxia (intention tremor, dysdiadochokinesia), truncal ataxia (wide-based, unsteady gait), dysarthria, ophthalmoplegia (limited upward gaze), nystagmus, decreased proprioception (positive Romberg test), decreased vibratory sensation, and dysarthria.

Answer 58

AR disorder of spinocerebellar tracts (dorsal column) triplet repeat disorder GAA repeat, Frataxin gene ``` Ataxia (before age 10) LL>UL Upgoing plantars, absent ankle pes cavus, hammer toes, kyphoscoliosis dysarthria speech nystagmus Loss vibration and proprioception, Rombergs+ve ``` Cardiac: HOCM Diabetes

Answer 59

• AD (often inherited) ; 1:1000-1:2500 PTPN11 mutation in 50% Rasopathy, Noonans gene panel Triad: Dysmorphic, short, cardiac • Short stature • Facial dysmorphism (can be very subtle) - Hypertelorism, epicanthal folds, ptosis, diamond shaped eyebrows, down slanting palpebral fissures -Short webbed neck, low posteriorly rotated ears, low posterior hairline, short broad nose, broad forehead, triangular face • Chest deformities (wide spaced nipples, pectus excavatum), webbed neck, short/squared off fingers Wide carrying angle ``` • Cardiac (50-80%) - PS(dysplastic PV) - most common - Superior axis - Hypertrophic cardiomyopathy, 20% Others: VSD, ASD, TOF ``` * Lymphatic (chylothorax, increased NT) * Self-limited feeding problem (25%) * Cryptorchidism (60 – 80%) * Global developmental delay, language delay * Learning difficulties, reduction in IQ but intellectual disability not typically severe * Bleeding diathesis * Increased risk childhood malignancy e.g. JMML, neuroblastoma Ddx - CFC, costello, turner, LEOPARD Monitor: growth, echo, hearing, development

Answer 60

• 1:10 000 – 30 000 • Infancy – hypotonia, feeding difficulties • Later infancy/childhood – excessive eating/food seeking behaviour • Gradual development of obesity • Developmental delay – motor and language • Cognitive impairment • Behavioural phenotype (tantrums, stubbornness, manipulative behaviour, OCD characteristics, self-harm) • Short stature – GH responsive • Facial features – narrow bifrontal diameter, almond shaped PFs, thin upper lip, downturned corners of mouth • Strabismus 60-70% • Hypogonadism – incomplete pubertal development, infertility • GH treatment increases lean body mass, reduces fat mass, increases mobility, improves language and cognitive skills

Answer 61

* 1:12 000 -24 000 * Severe developmental delay (6-12 months) and ID * Severe speech impairment * Gait ataxia/tremulousness of limbs * Behavioural phenotype – inappropriate happy demeanour, frequent laughing/smiling, excitability, hand-flapping * Microcephaly (postnatal) * Seizures 80% (generally before 3y), abnormal EEG, with a characteristic pattern of large- amplitude slow-spike waves * Feeding problems common * Normal puberty and fertility

Answer 62

* 47,XXY ; 1:600 males * 1/3 diagnosed in childhood – language delay, hypotonia/motor delay • Learningdifficulties,IQreducedcomparedtosiblings * 1/3 diagnosed in adolescence – puberty delay (hypogonadism) * Long legs, gynecomastia (50%) * Small, firm testes * 1/3 diagnosed in adulthood (usually when investigated for infertility) • Increased risk type 2 diabetes, osteoporosis, CVD * Testosterone replacement • ART (testicular biopsy/ICSI)

Answer 63

Deletion on Ch7 (7q11.2), most de novo, affected individuals have 50% chance of passing on • Distinctive face - Broad forehead, bitemporal narrowing, periorbital fullness, stellate/lacy iris pattern, short nose, broad nasal tip, long philtrum, wide mouth Narrow face and long neck, small widely spaced teeth • Cardiac abnormalities (elastin arteriopathy) - Supravalvar aortic stenosis 75% - Peripheral pulmonary stenosis • Hypertension • Anaesthetic risk (high risk for cardiac arrest) • Connective tissue abnormalities • Herniae, rectal prolapse, soft lax skin Bowel/bladder issues * Hypercalcaemia in infancy * Hypothyroidism * Feeding difficulties, FTT and short stature * Increased risk for type 2 diabetes, obesity in adults • Variable level intellectual disability ~100% - visuospatial issues • Personality - Overfriendliness, empathy, like music • Psychiatric - Generalized anxiety, specific phobias, attention deficit disorder Poor sleep Vision / hearing issues Dental issues Neuro: axial hypotonia, peripheral hypertonia

Answer 64

Incoordination of movement and balance due to dysfunction o Cerebellar o Sensory or motor pathways (connecting to CB) Aetiology a) Cerebellar 1. Congenital i) Congenital CNS anomalies - Dandy-Walker syndrome, Chiari malformation, encephalocele, agenesis of CB vermis ii) Spinocerebellar degenerative - AT, Friedrich ataxia, olivopontocerebellar atrophy, abetalipoproteinemia (also a metabolic disorder) iii) Other degenerative - GM2 gangliosidosis, neuronal ceroid lipofuscinosis, Pelizaeus-Merbacher disease iv) Metabolic - arginosuccuric aciduria, maple syrup disease, pyruvate decarboxylase deficiency, Hartnup disease, Vitamin E deficiency 2. Acquired i) Infectious - Acute cerebellar ataxia (post-viral e.g. varicella, coxsackie, echovirus), cerebellar abscess - Miller Fischer variant of GBS (ataxia, ophthalmoplegia, areflexia) ii) Toxins - ETOH, ethylene glycol, sedatives, hypnotics, thallium (used occasionally as pesticides), lead, mercury, hydrocarbon fumes - Anticonvulsants (CBZ and especially phenytoin, when serum level >30mcg/mL = 120umol/L) iii) Tumours - Cerebellar tumours - Frontal lobe tumours - ataxia by destruction of fibres connecting frontal lobe with CB - Neuroblastoma – encephalopathy characterised by progressive ataxia, myoclonic jerks, opsoclonus (non-rhythmic horizontal and vertical oscillations of the eyes) iv) Trauma – head injury v) Other - vascular events, migraine, seizures b) Vestibular disease 1. Acute labyrinthitis – middle ear infection, intense vertigo, vomiting and abnormal labyrinthine function (esp ice water caloric testing) c) Posterior column loss (V & P) 1. Subacute combined degeneration of the cord – B12 def (symptoms similar to Friedrich’s ataxia - UMNL of LL with absent ankle reflexes, dorsal column loss, peripheral sensory neuropathy, also optic atrophy & dementia) 2. Tabes dorsalis 3. Diabetes 4. Hypothyoroidism d) Peripheral neuropathy (DAM IT BICH) 1. D = Drugs - isoniazid, vincristine, phenytoin, nitrofurantoin, cisplatin, heavy metals, amiodarone 2. A = Alcohol 3. M = Metabolic – diabetes, CRF 4. I = Infective – GBS but usually predominantly motor 5. T = Tumour (leukaemia, lymphoma) 6. B = B12 deficiency 7. I = Idiopathic 8. C = CTD – SLE, PAN 9. H = Hereditary – HSMN History ``` 1. Onset of ataxia o Acute (*most common) • Infectious* (acute post-infectious, labryinthitis, Miller Fischer variant GBS) • Drug ingestion* • Seizure, head injury, vascular event (stroke), brain tumour, hydrocephalus o Developing chronic • Tumour • Neurodegenerative ``` 2. Underlying cause o CNS abnormality/degenerative – associated congenital anomalies, FHx o Metabolic – FHx o Infectious – features of acute infectious, labyrinthitis o Tumour – Sx of ICP o Exposure to drugs and toxins o Recurrent respiratory and sinus infections (ataxia telengiectasia) 3. Developmental Hx - ? just clumsy or true ataxia Examination ``` 1. CNS examination o CB function (speech, vision, gait) – abnormality of CB hemispheres o Gait veers towards involved side o Wide based and unsteady gait o Dysmetria of ipsilateral extremity ``` 2. Lower limb neuro o Motor function and reflexes  abnormal gait may arise from muscle weakness and spasticity o Sensory function 3. Fundoscopy (neurodegenerative) 4. Systemic exam - cutaneous stigmata (ataxia telangiectasia) Investigations 1. Bloods o FBE, UEC o +/- toxicology screen blood (and urine) o +/- metabolic screen (amino acids, lactate, pyruvate, ammonia, pH, ketones) 2. Other o CT/MRI needed - if no lesion, detailed metabolic and genetic evaluation o +/- LP (after imaging) o VMA/HVA urine if think neuroblastoma (need image chest and abdomen as well)

Answer 65

Methlylation disorder with absence of paternally expressed genes from the chromosome 15q11- q13 region Diagnosis methylation testing -70% paternal deletion, 25% maternal UPD, rest methylation defect Infancy - central hypotonia, poor feeding and FTT Older Dysmorphic - almond eyes, thin upper lip, downturned mouth, straight border to side of legs/ulnar border Issues Hypothalamic dysfunction Poor sleep Hyperphagia and obesity - risk T2DM, OSA Developmental and cognitive delay Short stature and GH insufficiency. Small hands/feet Behavioral problems - skin picking, tantrums, manipulative behaviour, OCD Neuroendocrine abnormalities. - GH deficiency - Hypogonadism - Central Hypothyroidism - T2DM - Central adrenal insufficiency (Risk of adrenal crisis with GH treatment) Eye problems - strabismus Monitor bone health, scoliosis - need Ca and Vit D Behaviour Nutrition Endocrine ; GH treatment Sleep

Answer 66

Cardiac - Conotruncal defect - 3XTAPS TOF ; Interrupted aortic arch, VSD ; tricuspid atresia/truncus arteriosus Abnormal face - Hypertelorism, abnormal ears, bulbous nasal tip - Asymm crying face Thymic hypoplasia / T cell defect Cleft palate and pharyngeal insufficiency HypoPTH and Hypocalcemia ``` Others - low IQ Feeding issues Renal issues - horseshoe kidney, abnormal structure Seizures High incidence Psychiatric disorders ``` FISH for 22q11.2

Answer 67

``` CP Wilsons Neurodegn - Lesch Nyan, Huntingtons Sydenhams chorea Drugs SLE AT ``` Stick out tongue Pronator sign (hands above head) Milk maids grip

Answer 68

``` Inspection, HC (? tumour), ? shunt ; telangiectasia, BP Speech - sizzling sausage Nystagmus Truncal ataxia Gait - ataxia (fall to side of lesion) Rombergs +ve Tremor, hypotonia, past pointing Dysdiadokinesis Pendular reflexes ``` Look eyes (KF rings, telangiectasia, papilloedema) Syndromic assoc FA (pes cavus, hammer toes, absent knee/ankle reflex) ; T2DM, HOCM Ataxia telangiectasia Wilsons Neuroblastoma Bardet Biedl (RP, Polydactylyl, obese, hypogonad) MRI FBC, UE, LFT, metabolic, toxicology

Answer 69

DAM IT BICH ``` Drugs - vincristine, isoniazid Alcohol Metabolic - CRF, DM Infective - GBS Tumour - Leukaemia/lymphoma B12 def Idiopathic CTD - SLE HSM neuropathy - CMT ```

Answer 70

``` Observation Speech (Dysphasia if dominant hemisphere) Intellect Skin - Neurocutaneous, bruising HC, scars, shunt ``` Gait examination - Circumduction gait, arm flexed FOG test Sensory neglect (pronator drift) COMPLETE EXAM Upper limb Cranial nerves Cardiac exam Determine level - cortex, IC, brainstem, spinal cord Parietal lobe signs (Cortical) - Dominant lobe (LIRA - left right confusion, ideomotor apraxia (brush teeth), receptive aphasia, agraphia) - Non dominant - constructional apraxia (draw clock) Visual fields (lesion at IC or above) Cranial nerves, esp CN7 (UMN above pons, LMN pons) CORTEX: Face and arm>leg, cortical signs IC: dense hemi, homonymous hemianopia Brainstem: Ipsi CN palsy, contr hemi Spinal cord - face spared ``` Ddx Congenital causes (Antenatal / Perinatal causes) - Hemiplegic CP - Vascular - Structural - Congenital infections ``` Acquired - Stroke: - -- Ischaemic - moyoma, CARIAC(thromboembolic): CHD, RHD, SBE, ; sickle cell, thrombophilia ; NF1, homocystinuria - --Haemorrhagic - coagulopathy, AVM, tumour, haemophilia - Vasculitis (SLE, takayasu) - Neoplasm - Trauma - Infective (HSV encephalitis, meningitis, abscess) - Metabolic (MELAS) - Autoimmune - ADEM

Answer 71

Bilateral weakness with ptosis +/- ophthalmoplegia - Moebius (CN 6,7) (facial palsy, CN6palsy, absent pectorals, hypoplastic fingers) - MG - MD B/L weakness with no ptosis - myopathy - CP with bilateral UMN facial palsy - GBS Unilateral facial nerve palsy - UMN (forehead sparing): check gait, VF Causes: Tumour, vascular - LMN (forehead involved): Idiopathic / Bells, Ramsay Hunt, check ears for OM, parotid gland

Answer 72

``` HTN, Hyperkalemia, GI upset Neuro: Peripheral neuropathy and Tremor Renal impairment Hyperglycemia Hypomagnesemia ``` Things that increase Tac level Antibiotics: Macrolides ; cipro Omeprazole ; NSAIDs, Fluconazole Things that decrease Tac levels AEDS - CBZ, Phenytoin ; Rifampicin

Answer 73

Graft survival - 90% 1 year, 80%5years Done when liver decompensated - Hepatorenal, encephalopathy, refractory ascites Indications - impaired synthetic function (albumin low, high INR) - intractable malnutrition / FTT - Varices from portal HTN - poor QOL (intractable pruritius, lethargy, anorexia) Diseases - EHBA (biliary atresia) - most common >50% LTx - Metabolic condition - CF, AAT def, GSD, tyrosinemia - Acute hepatic necrosis - Primary biliary cirrhosis / cholestatic liver Dx - Malignancy Donor must be ABO matched Immune suppression - Tac, MMF, steroids(weaned over 12mo) Complications - Acute rejection (most common first 3/12 post transplant, no effect graft function ) - Late rejection - due to SE immune supp - infection/PTLD Fever, deranged LFTs, jaundice, pain Rx pulse steroids, increase TAC - Infections: Bacterial, Viral (EBV/CMV), fungal - Biliary comp (20%) - cholangitis - PTLD.- EBV driven, occurs 3-12mo post LTx Rx by decreasing Tac ; consider rituximab - SE immune supp - renal impair, HTN, T2DM - Recurrence primary liver disease - autoimmune, hepatoblastoma (monitor AFP) - Thrombosis of anastomosed vessel (risk highest first 3/12, Rx Anticoag) ``` NB compliance AVOID LIVE vaccines Need VZIG/IVIG if measles or VZV exposed PCP prophylaxis until 1 year post CMV prophylaxis x 3/12 with valgan ``` ``` Back to school 3/12 post transplant Good hygiene, no swimming Nutrition Skin surveillance Psychological support - parents and child ```

Answer 74

Appears, growth ; Vitals - BP evidence PD / HD Hands - nails, wrists, pulse, BP JVP for overload Eyes - cataracts SE, fundo to check for RP Hearing aids (Alports) ``` Medication SE - BP, Hirsutism, weight, gum hypertrophy Heart/lungs Abdo - scars, PD site, transplant - ballot ; bruit - Check liver (ARPKD) lymphadenopathy (PTLD) Rash on legs, peripheral oedema, sensation ``` ``` Hx Renal transplant - Diagnosis, Inx, complications, treatment Bladder / bowels Growth, BP Bones Skin Fluid intake ``` ``` Meds EPO for anaemia Immune suppression and SEs Special feed / restrictions ? GH for growth ACE for BP UTI prophylaxis CMV prophylaxis (for 3/12, valgan) Cotrimoxazole (PCP prophylaxis for 6/12 post) IMMS status ``` Check regular bloods, viral serology Biopsy at 3/12 and 12/12 - check for CNI toxicity, allograft nephropathy, subclinical rejection Monitor BP, lipids Bone bloods, Vit D US at 1,5,10years post transplant No live IMMS, may need VZIG/IVIG if exposed Impact Complicance Sick plan School / mood / finances

Answer 75

``` Infection - UTI, EBV/CMV, BKV Obstruction Medication-tac/ciclosporin Perfusion Dehydration Rejection ```

Answer 76

Ptosis, miosis, anhidrosis Lesion along sympathetic pathway Ddx - Congenital (iris heterochromia) - Post cardiac surgery - Neuroblastoma - Brachial plexus lesion (Klumpkes) - Mediastinal / apical lung tumour - MS / stroke / spinal cord lesions Lateral medullary syndrome (brainstem) vertigo and ataxia,Horner syndrome. - abnormal eye movements, ipsilateral limb ataxia, and a dissociated sensory loss (loss of pain and temperature sensation on the ipsilateral face and contralateral trunk)

Answer 77

Peak 4-6, 12-13 ``` Skin Gottrons papules Heliotrope rash Sun exposed rash Calcinosis ``` Symmetrical proximal muscle weakness Elevated CK, LDH, AST Dilated nail fold capillaries Cardioresp comp - DCM, conduction abnorm GI/renal; swallow weak CNS/ophthal 25-30% full recovery , no relapse 50-60% relapsing course Small percentage chronic CMAS to assess severity SLT LUNG FUNCTION Steroids, taper over 2 years MTX

Answer 78

``` Vertebral anomalies Anal atresia +/- fistula Cardiac (VSD0 TE - tracheo-esophageal fistula Renal anomalies Limb anomalies (Polydactyly, humeral/radial hypoplasia,) ```

Answer 79

Inherited BM failure syndrome ``` Short stature Radial ray and thumb abnormalities Skin: CAL HEAD: bird like face, microcephaly, epicanthal folds, low set ears, CHL, strabismus Renal: ectopic/horseshoe/absent kidney Hypospadias / abnormal genitalia Cardiac: PDA, VSD Endo: Hypothyroid, DM Malignancy risk ``` Diagnosis; Chromosomal breakage analysis Rx: HSCT

Answer 80

Age diagnosis, presentation ; TYPE A (factor 8 def) ; B (factor 9 def). BOTH XLR 2/3 family Hx, 1/3 spontaneous mutation APTT prolonged--> genetics ``` Complications - joint/brain/skin/airway Treatment and prophylaxis ; analgesia Inhibitors (20-30% with A) - Low responders - higher dose - High responders - may need recomb Factor7 - Immune tolerance, Rituximab Frequency of infusions Activity limitation Acute emergency plan ``` ``` Prophylaxis Imms Dental care, surgery ? CVAD genetics ``` Factor replacement in emergency Joints - RICE Avoid NSAIDS for pain

Answer 81

``` Age Dx, Symptoms Complications - Crises - acute chest - Stroke - Splenic sequestration - Renal - Eyes: Retinopathy, SE hydroxyurea ``` Acute Mx plan Avoid precipitants Splenic function - ? need extended imms - Risk infection encapsulated organisms - pneumococcal, salmonella (OM) Treatment: Hydroxyurea ? HSCT 6/12 review, emergency plan SE Hydroxurea - BM supp, teratogenic Adherence, transition

Answer 82

BETA THAL ``` Anaemia Extramedullary haematop - frontal bossing Iron overload - Endocrine: growth F, hypothyroid, DM - Cardiomyopathy (annual ECHO) - Liver: cirrhosis and portal HTN (Liver US, LFTS) - Brain Pigement bile stones Hypersplenism (thrombocytopenia) Short stature, pubertal delay ``` ``` Transfusions chelation timing and SE (cataracts, SNHL, annual eye and hearing review ) IMMS Genetic testing (25% risk recurrence) HSCT ```

Answer 83

XLD, mutation MECP2 gene, 99% sporadic Occurs only females Normal initial development followed by regression from 6-18months with loss of speech and purposeful hand movements and development of stereotypic hand movements and abnormal dyspraxia gait. ``` Features Hand stereotypes - wringing, clapping Ataxic/apraxic gait Abnormal respiration - hyper vent and aponea ; bruxism Deceleration of head growth Prolonged QTc Eye pointing Abnormal sleep ASD behaviour, loss speech, poor eye contact Scoliosis Epilepsy and seizures in 80-90% - Rx AEDs, ketogenic diet Autonomic dysfunction Feeding issues - PEG fed, GORD, abdominal bloating, constipation Decreased sensitivity to pain Bone health ``` 4 stages 1. Delay ; (6-18mo) 2. Regression (1-4yo) 3. Unapparent slow deterioration (2-10) 4. Motor deterioration - become wheelchair dependent by adults

Answer 84

AD, KTM2D gene ``` high arched eyebrows, eversion lateral 1/3 eyebrows, long palpebral fissures Cleft lip/palate ; abnormal ears ID ; short stature Spine abnormalities Cardiac: CoA, VSD Renal/GI issues ```

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