Muscle biopsy findings with
1. Myotubular myopathy
2. Myotonic dystrophy
3. SMA
4. Muscular dystrophy
- Large fibrils, centrally placed nuclei
- Small fibers, centrally placed nuclei
- Hypotrophy fascicles with hypertrophic fascicles
- Replaced by fat, connective tissue and peri placed nuclei
Hypotonic, arreflexic neonate with resp distress, nerve biopsy shows decrease in myelin density with onion bulb formation. Dx?
Dejerine Sottas disease
Can also have arthrogryposis and foot deformity, decrease fetal movement IUGR
Marked decreased nerve conduction velocity <12m/sec
Nerve biopsy differentiates from congenital hypomyelinating neuropathy which has absence of myelin fibers
Newborn with dolichostenomelia, High arched palate, mitral valve prolapse and joint contractures (fingers, Elbows and knees). Dx?
Congenital contractural arachnodactyly AKA Beals syndrome
Mutation in fibrillin gene-2 on chromosome 5
Think marfans with contractures
Marfans syndrome, dolichostenomelia (long extremities), aranchmodactyly, joint contractures fingers elbows knees, MVP
Describe aEEG findings in normal vs burst suppression vS seizures.
Continuous amplitude 10-25mcV (appears like a fuzzy caterpillar)
Discontinuous-wide band w min amplitude below 5 and max>10
Burst suppression-discontinuous w min amplitude 0-1mcV with burst>25 (<100 bursts/hr negative burst suppression, >100 bursts/hr positive burst suppression)
Low voltage- continuous pattern around/below 5
Inactive iso electric, low background amplitude<5
Seizures- saw tooth pattern, inc min and max amplitudes
Abnormal aEEG at 48 hrs predictive of NDI and neg aEEG at 6hrs predictive of No NDI
Describe the presentation triad of Aicardi syndrome
Agenesis of corpus callosum
Infantile spasms
Chorio retinal lacunae
Autosomal dominant 46XXY
Term newborn with hypotonia, arthrogryposis multiplex congenita, and dilated cardiomyopathy. Muscle biopsy with gomori trichrome staining with rodlike bodies. Dx?
Nemaline myopathy (remember Nemaline bodies)
Absent DTR and severe muscle weakness affecting face/proximal limbs
EEG findings of burst suppression
Ohtaharra syndrome
Non ketotic hyperglycinemia
Indicate the precaution type
CMV - Standard Rubella - Contact + Droplet HSV - Contact (lesions) Toxo + HIV + Listeria - Standard TB + Varicella - Contact + Airborne HSV - Contact Parvovirus- Standard + Droplet
Inflammatory Response Mediators
Vasodilation
Histamine, prostaglandin, nitric oxide, bradykinin
Increased vascular permeability
Histamine, complement, bradykinin, leukotrienes, nitric oxide
Leukocyte adhesion
- Cytokines (IL-1, TNF-a), complement, eicosanoids (prostaglandins, leukotrienes), selectins
Chemotaxis
Chemokines, complement, eicosanoids (prostaglandins, leukotrienes),
Fever
• IL-1, TNF-a, prostaglandins
Tissue necrosis
- Neutrophil granules, free radicals
Platelet aggregation
Eicosanoids (prostaglandins, leukotrienes)
Which molecules allow for cell adhesion rolling?
Decreased L selectin and B 2 integrity
Macrophages have decreased activation and migration in neonates secondary to?
Poor response to IFN gamma
What’s the role of CD8 T cells
- Cytotoxic lymphocytes
- Release perforins, degradative enzymes,
and cytokines - Cytokine production is lower compared with adults
-Cytotoxic activity is limited in neonates
Clinical features of immunodeficiency
Delayed umbilical cord separation
Infection - particularly repeated
Failure to thrive
Chronic diarrhea
Symptomatic infection due to live vaccines (eg, rotavirus, Bacille Calmette-Guérin [BCG], oral polio)
Heart or lung disease (low qxygen saturation suggests one of these problems)
Congenital asplenia
Mucosal abnormalities such as thrush, mouth sores, and ulcerations
Petechiae, melena, bleeding
Cutaneous rashes, pigmentary abnormalities
Syndromic appearance (abnormal faces or habits) including facial or craniofacial anomalies
Lymphadenopathy and/or hepatosplenomegaly
Autoimmunity
Disorders of Neutrophil production and function
Myeloperoxidase deficiency
• MC deficiency (1 in 2-4K people), can be clinically silent
• Recurrent candidal infections
Chédiak-Higashi syndrome
• Abnormal degranulation, recurrent infections, albinism, giant intracellular granules
HyperimmunoglobulinE
STAT3 mutation alters PMN chemotaxis
G6PD
Decreased NADPH activity > decreased oxygen dependent killing
Galactosemia
Inhibitory effects of galactose on PMNs
Neutropenia
Glycogen Storage Disease 1B, Shwachman-Diamond syndrome, Kostmann syndrome, Reticular
dysgenesis
Trisomy 21
Depressed chemotactic activity
Not much difference between albumin and total protein. Which immune disorder?
Agammaglobulinemia
Profoundly diminished lg levels of all isotypes
- IgM levels are undetectable
B cell-specific src-associated (Bruton’s) tyrosine
kinase mutation >prevents pre-B cells from
becoming mature B cells/plasma cells
Absence of B cells in the blood and lymphoid tissue
•
Plasma cells are absent in Gl tract
A
• Normal T cell numbers but dysplastic lymph nodes
due to no B cells
Granulomatosis Infectiosum is seen with which disease?
Listeria
Infant with infancy with the classic triad of enteropathy, dermatitis, and hyperglycemia. Other siblings died at early age. Dx?
IPEX
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a systemic autoimmune disease caused by immune dysregulation because of a mutation of FOXP3 affecting control of T-regulatory cells.
Bone marrow and allogeneic hematopoietic stem cell transplantation are the only potential cures presently for IPEX syndrome.
Difference between preterm and term immunity
Decreased complement
Lower neutrophils stores and adhesion
Decreased activity CD4 and CD8
Decreased maternal transfer of IgG that happens in 3rd trimester
What marker is used to diagnose SCID with low TREC present?
Beta actin levels
Term
Low TREC + normal beta actin = abnormal result —> obtain flow cytometry
Preemie
Low TREC + normal beta actin = abnormal result —> repeat TREC by 40 weeks
In TTTS which twin has chorionic magistral blood vessel pattern?
Donor twin (large size vessels w minimal branching extending from cord insertion to placental periphery)
They are more at risk of anemia, hypovolemia, to be wrapped in cord, and “stuck twin syndrome” bc oligohydramnios
What is the goal Hct during PUBS?
Transfusion volume goal is high hematocrit to minimize fluid overload (O negative hct 75-80%)
= hgb goal- hgb fetal/hgb donor-hgb goal (fetal placental blood volume 90-120ml/kg)
Which factors are associated with worse maternal fetal outcomes in preeclampsia ?
Elevated ratio of fms-like tyrosine kinase 1 (Flt-1) [antiangiogenic] to
placental growth factor (PIGF, angiogenic)
(A low ratio between 24-37 weeks gestation can predict absence of preeclampsia within one week)
Remember Other antiangionenic factors are endoglin which is also increased and angiogenic like VEGF is decreased
