16M w/JME
- Shows photoparoxysmal[β¦] response at intermittent photic stimulation rate of 12Hz
Child Neuro
Child Neuro
Subspecialties Β· 82 cards
16M w/JME
- shows paroxysms of 4-6[β¦] Hz generalized spike-and-wave[β¦] discharges
11M w/ Jeavons Syndrome
- EEG shows generalized spike-and-wave[β¦] discharges following eye closure
- EEG w/characteristic 3[β¦]Hz generalized spike and wave[β¦] discharges seen in CAE[β¦]
- A: MRV shows a SSS[β¦] CVST
- B: MRIb axial SWI shows hemorrhagic infarct in the L parietal[β¦] lobe along w/ venous congestion[β¦] mostly in the L hemisphere
A (MRIb axial T2W): BL hyperintense foci
- B: MRA shows no flow in the L ICA[β¦], L proximal MCA[β¦]s, and ACA[β¦]s
- C: DSA shows occlusion of the L supraclinoid[β¦] ICA
- A/B: MRIb axial DWI & T2 FLAIR: show L MCA AIS w/C:MRA showing irregularity of the distal L ICA[β¦] and proximal L {{c::MCA}}
- A: CTHwo: shows cerebral edema[β¦] w/loss of gray-white[β¦] differentiation in the area of the L MCA[β¦] distribution
- B: shows possible thrombus[β¦] in the proximal L MCA[β¦] vessel
- C: CTHwo after 2 yrs: shows L MCA encephalomalacia[β¦] w/ex vacuo[β¦] dilatation of the posterior[β¦] horn of the L lateral ventricle[β¦]
Aicardi-Goutieres Syndrome
- MRIb axial T1W noncontrast: shows hyperintensities in the BL BG mostly in the putamen[β¦] representing mineralization[β¦]
Kid w/Aicardi Goutieres Syndrome
These represent Chilblains[β¦] which are vasculitis purple-red skin lesions
Reprinted with permission trom Abe s. etal.
Rheumatology (Oxford) 38 Β© 2013 The Authors.
Kid w/Metachromatic leukodystrophy
- MRIb axial T2W: shows confluent diffuse hyperintensities involving central white[β¦] matter and corpus callosum[β¦] bilaterally similar to Krabbe[β¦] Disease
Kid w/Krabbe disease
- MRIb axial T2W: shows confluent[β¦] diffuse hyperintensities involving the white[β¦] matter and corpus callosum[β¦]; similar to metachromatic leukodystrophy[β¦] in appearance
Pt w/Childhood cerebral X-linked adrenoleukodystrophy
- MRIb axial T2 FLAIR: shows confluent white matter signal abnormality in the bilateral parietal[β¦] white matter w/involvement of the splenium[β¦] of the corpus callosum[β¦] + posterior aspect of the thalami[β¦] & posterior[β¦] limbs of the internal capsule[β¦]
Kid w/Sturge-Weber syndrome (BL facial port wine stain birthmarks, L hemiparesis, glaucoma, poorly controlled epilepsy)
- MRIb axial T1W postcontrast: shows diffuse L>R occipital[β¦] lobe leptomeningeal[β¦] enhancement w/associated atrophy[β¦]
This 17F has the characteristic R facial port-wine stain birthmark[β¦] associated with Sturge-Weber[β¦] Syndrome -- can cause facial hemihypertrophy[β¦] as well w/the trigeminal nerve involved
Kid w/TSC2 mutation
- This kid w/renal cysts likely has Tuberous Sclerosis[β¦]
8F, MRIb axial T1W-postcontrast
- this shows SEGA at the R and L foramen of monroe[β¦] w/R>L ventriculo[β¦]megaly
Girl w/TSC
- MRIb axial T2 FLAIR: shows multiple cortical tubers[β¦] mostly in the R hemisphere
kid w/TSC
- this shows an extensive shagreen[β¦] patch lesion s/p spinal fusion for scoliosis
This shows prominent facial angiofibromas[β¦] seen in a malar/perioral distribution in a girl w/TSC
This shows a hypomelanotic[β¦] macule on the arm or an adolescent with Tuberous Sclerosis
Kid w/NF2
- MRIb axial T1W postcontrast: shows bilateral vestibular schwannomas[β¦]
Girl w/meningioma, NF2
- MRIb coronal T1W postcontrast: L hemisphere enhancing mass w/ central necrosis[β¦] and surrounding edema[β¦]
Kid w/NF1 and Moya Moya Syndrome
- MRA time of flight: shows occlusion of the L M1[β¦] segment vessel w/extensive vessel collateralization
Kid with NF1
- MRIb/orbits axial T2W fat-sat: shows an optic glioma[β¦]
Kid w/NF1
- A (pic) / B (MRIb axial T2W): shows an extensive left facial and neck plexiform neurofibroma[β¦] w/near-complete obliteration of the airway
kid w/NF1
- this shows neurofibromas[β¦]
Girl w/NF1
- this shows CafΓ© au lait[β¦] spots and axillary freckling[β¦]
Kid w/DCX mutation, infantile spasms, developmental delay
- A fetal/C postnatal axial + C axial/D postnatal coronal MRIs show smooth[β¦] gyri and subcortical band heterotopia[β¦] c/f lissencephaly[β¦]
Kid w/TUBA1A mutation
- A axial/B coronal fetal + E/F postnatal MRIs: show a shallow[β¦] operculum, abnormal box-shaped temporal[β¦] lobes c/f diffuse cerebral malformation
- C axial/D coronal follow up fetal + G/H postnatal MRIs: show persistent shallow[β¦] operculum and absence of normal sulcations[β¦] in the frontal[β¦] lobes c/w lissencephaly[β¦] + hypoplastic temporal[β¦] lobes
27-week fetus w/ventriculomegaly
- A coronal / B axial: shows periventricular nodular heterotopia[β¦]
- C coronal / D axial: continues to show ventriculomegaly w/periventricular nodular[β¦] tissue w/signal iso[β¦]intense to cortex (c/f ectopic gray matter)
Kid w/ focal cortical dysplasia
- MRIb axial T2 FLAIR: shows hyperintensity in the L frontal[β¦] lobe cortically/subcortically w/increase in thickness of the gyri[β¦]
kid w/TSC
- A B MRI axial / C coronal T1W: show areas of hyperintensity corresponding to cortical/subcortical tubers[β¦] w/expanding gyri[β¦]
- D MRI axial T2W: shows a subependymal[β¦] nodule
- A: neonatal MRIb sagittal T1W noncontrast: showing agenesis[β¦] of the corpus callosum[β¦]
- B: neonatal MRIb axial T2W: shows pachygyria[β¦]
- C: neontal MRIb axial T1W noncontrast: shows subcortical calcification[β¦]
- D/E: show micro[β¦]cephaly w/scalloped parietal[β¦] bone and slanted occiput[β¦]
- F: shows diffuse spasticity w/overlapping[β¦] fingers
Kid w/agenesis of the corpus callosum
- A/D coronal: shows vertical orientation of the anterior[β¦] horns of lateral ventricles[β¦]
- B/E axial: shows parallel orientation of the anterior[β¦] horns of lateral ventricles[β¦]
- C/F sagittal: shows ventriculomegaly esp of the posterior[β¦] horns of lateral ventricles[β¦] (aka "colpo[β¦]cephaly") -- F also shows abnormal radiant orientation of sulci[β¦]
- fetal MRI A coronal / B axial @20wks GA: show a single ventricle[β¦], absence of the septum pellucidum[β¦], and incompletely formed interhemispheric fissure[β¦] (no cleavage of frontal[β¦] lobes) c/w holoprosencephaly[β¦]
- fetal MRI C coronal / D axial: shows rudimentary temporal[β¦] & occipital[β¦] lobes w/partial fusion of thalamus[β¦] and incomplete formation of hippocampi[β¦]
Genetic Testing - Concepts and Levels
Genotype-phenotype relationships: Classic concordance[β¦]: 1 genotype β 1 phenotype (e.g., Trisomy 21 β Down syndrome); Genetic heterogeneity[β¦]: multiple genotypes β same phenotype (e.g., multiple epilepsy genes); Phenotypic pleiotropy[β¦]: 1 genotype β multiple phenotypes (e.g., ATP1A3 β AHC, severe infantile epilepsy).
Chromosomal level: Aneuploidy[β¦] (whole chromosome gain/loss): detect via karyotype or chromosomal microarray (CMA)[β¦].
Balanced translocation[β¦]: use karyotype[β¦] (CMA only measures dose). Unbalanced: detectable by both.
Deletions/duplications: FISH or CMA[β¦]; CMA has higher resolution than karyotype.
Gene level: Exon-level deletions/duplications (e.g., DMD) β MLPA[β¦]; Repeat expansions (Fragile X, HD, SCA, myotonic dystrophy) β Southern blot[β¦] (too small for karyotype/CMA/FISH/NGS); Methylation abnormalities (Angelman, Prader-Willi) β methylation-sensitive PCR[β¦]; Single-nucleotide variants: classified as SNP (benign), pathogenic mutation, or VUS[β¦].
Genetic Testing - Sequencing and Clinical Use
Sequencing: Sanger[β¦]: one gene at a time; Next-generation sequencing (NGS)[β¦]: fragments DNA, maps to reference genome; Exome sequencing[β¦]: targets only exons; Note: only detect changes in nucleotide sequence β NOT aneuploidy, translocations, CNVs, exon del/dup, repeat expansions, or methylation issues.
Workup by indication: Global developmental delay[β¦] (β₯2 of 4 domains): start with CMA, karyotype, and Southern blot for Fragile X[β¦]. If normal β exome sequencing.
Autism spectrum[β¦]: CMA with reflex karyotype + Fragile X + exome.
Epilepsy[β¦]: CMA Β± karyotype β exome sequencing/gene panels.
Microcephaly[β¦]: HC β₯2 SD below mean; can be prenatal or postnatal.
Genotype-guided treatments: GLUT1[β¦] deficiency β ketogenic diet[β¦] (provides ketone bodies bypassing defective glucose transporter); Dravet (SCN1A)[β¦] β avoid sodium channel blockers (worsen seizures); GCH1[β¦] mutations (BH4 cofactor β DA) β levodopa; AADC deficiency[β¦] β levodopa is harmful (it accumulates); SMA[β¦] β nusinersen[β¦] (modifies SMN2 splicing).
Trio analysis[β¦]: test parental DNA to determine if a child's VUS is benign or de novo.
Inborn Errors - Overview
Three categories (almost always autosomal recessive[β¦]): 1.
Accumulation of toxic[β¦] substances (organic acidurias, urea cycle defects). 2.
Energy metabolism[β¦] disorders (PDH complex deficiency). 3.
Complex molecule catabolism[β¦] defects (lysosomal storage diseases, peroxisomal disorders).
Why infants present after a delay: protected in utero by placental clearance[β¦] of toxic metabolites β symptom-free period after delivery.
Typical presentation: recurrent encephalopathy, vomiting, ataxia, metabolic acidosis[β¦] triggered by illness, dietary changes (excess protein), or stress (pregnancy).
Plus progressive failure to thrive, developmental delay, cardiomyopathy, hepatomegaly, or lens dislocation[β¦].
Urea Cycle Defects
Mechanism: urea cycle converts ammonia[β¦] into excretable urea. When deficient β ammonia accumulates.
Symptoms: normal for first 24-48 hours[β¦] (placental clearance) β deteriorates (encephalopathy, vomiting, seizures).
Hyperventilation[β¦] from ammonia-driven brainstem stimulation β respiratory alkalosis β eventually acidosis.
Subtypes: Proximal defects: CPS, OTC, NAGS[β¦] deficiency.
OTC is X-linked[β¦] (mostly males, may present in adulthood); elevates urine orotic acid[β¦].
Distal defects: ASS (βcitrulline), ASL (βargininosuccinic acid), arginase[β¦] (progressive spastic quadriparesis).
Diagnostics: ammonia level + undetectable/low citrulline[β¦].
Treatment: Rapidly normalize NH3 with scavengers (sodium phenylbutyrate, benzoate[β¦]); Essential amino acids + glucose + fats to reverse catabolism; Restrict protein; NAGS[β¦] deficiency β carglumic acid[β¦]; Liver transplant[β¦] curative for some.
Organic Acidurias and Aminoacidopathies
Organic acidurias: enzyme defects in amino acid metabolism β organic acid accumulation β metabolic acidosis with anion gap[β¦] + CoA depletion β secondary urea cycle impairment with hyperammonemia.
Methylmalonic acidemia (most common): neonatal encephalopathy β BG/putamen injury β dystonia/EPS[β¦] + chronic renal dysfunction. Labs: severe acidosis, ketonuria, hyperammonemia, neutropenia/thrombocytopenia.
B12 (cobalamin)[β¦] variant may respond to cobalamin supplementation.
Propionic acidemia: similar to methylmalonic but with chronic injury to BG and white matter[β¦]. Treat with biotin + protein restriction β liver/kidney transplant if needed.
Multiple carboxylase deficiency: biotinidase[β¦] or holocarboxylase synthetase[β¦] deficiency. Treat with biotin.
Glutaric aciduria Type I: classic macrocephaly[β¦]; imaging shows widened sylvian fissures and prominent subarachnoid spaces (mistaken for atrophy); aggressive treatment prevents BG injury.
Aminoacidopathies β early encephalopathy WITHOUT metabolic acidosis: PKU[β¦]: phenylalanine hydroxylase[β¦] defect β can't convert phenylalanine to tyrosine. Treatment: lifelong phenylalanine restriction within weeks of life.
Homocystinuria[β¦]: cystathionine Ξ²-synthase deficiency.
Marfan-like + lens dislocation[β¦], cognitive impairment, vascular disease (PE/stroke). Treatment: restrict methionine + supplement cysteine, pyridoxine, betaine.
Maple syrup urine disease (MSUD)[β¦]: branched-chain Ξ±-keto acid dehydrogenase defect.
Feeding difficulties, myoclonus, posturing + burnt sugar[β¦] odor. Treat with IV hydration + dextrose + BCAA-free diet + thiamine.
Additional Treatable Inborn Errors
Pyridoxine-dependent epilepsy: ALDH7A1[β¦] mutation β neonatal seizures refractory to standard ASMs β dramatic response to IV pyridoxine (100-500 mg)[β¦].
GLUT1 deficiency: SLC2A1[β¦] mutation β impaired glucose transport across BBB β early seizures + developmental delay + movement disorders. CSF: low glucose with normal blood glucose + low-to-normal CSF lactate.
Treatment: ketogenic diet[β¦]. Creatine deficiency syndromes: cognitive impairment + epilepsy + movement disorders. MRS: deficient creatine peak.
GAMT and AGAT (not X-linked transporter defect) are partially reversible with creatine supplementation[β¦].
PDC (pyruvate dehydrogenase complex) deficiency: PDHA1[β¦] mutation β can't convert pyruvate to acetyl-CoA β lactic acidosis. MRI: BG and brainstem abnormalities. Treatment: ketogenic diet + thiamine.
Wilson disease: AR ATP7B[β¦] mutation β copper transport issues β copper accumulates in liver (jaundice/hepatitis), brain (psychosis, movement disorders, tremor), cornea (Kayser-Fleischer rings[β¦]). Labs: low serum copper/ceruloplasmin + high urine copper.
Treatment: copper chelation (penicillamine or trientine[β¦]) + zinc + liver transplant if needed.
Genetic diagnosis gold standard: whole-exome sequencing[β¦].
Neonatal Encephalopathy - Overview and Workup
Presentation: irritability/lethargy, seizures, hypotonia, abnormal primitive reflexes, apnea, feeding disturbance, abnormal cry. Severity grading: Sarnat[β¦] classification (based on worst degree on serial exams). Mild = good outcome. Severe = high death/disability.
Common etiologies: Hypoxic-ischemic events[β¦]: placental abruption, uterine rupture, cord prolapse; Stroke, infection; Brain malformation or genetic conditions (inborn errors of metabolism).
Workup: Continuous vEEG[β¦] (clinical observation unreliable) for at least 24h.
MRI brain[β¦] Β± head US. On MRI:.
DWI[β¦] detects injury in acute phase (first 7-10 days).
Pattern 1: BG/thalamus[β¦] injury from profound placental perfusion disruption β can lead to cerebral palsy[β¦].
Pattern 2: watershed[β¦] injury from partial prolonged disruption β more favorable.
MRS: lactate peak + low NAA[β¦] predict acute injury. SWI for hemorrhage.
Labs: CBC/CMP, umbilical artery blood gas and lactate[β¦], infectious cultures, coags. LP if CNS infection suspected (include HSV and Parechovirus). If IEM suspected: NH3, serum amino acids, urine organic acids.
Neonatal Encephalopathy - Therapeutic Hypothermia and Seizures
Therapeutic hypothermia protocol: target temp 33.5Β°C for 72 hours[β¦].
Eligibility: β₯36 weeks[β¦] gestational age + suspected hypoxic-ischemic injury + moderate-severe encephalopathy + indicators of perinatal distress (Apgar <5 at 10 min, pH <7 or base excess β€-12 to -16 within 1st hour, >10 min resuscitation).
Initiation window: within 6 hours[β¦] of birth (earlier is better). Mechanism: lowers cerebral metabolism + reduces inflammation β less cytotoxic edema + suppresses apoptosis.
Seizure treatment: Phenobarbital (20 mg/kg load)[β¦] = phenytoin/fosphenytoin (20 mg/kg PE); Keppra (40-60 mg/kg) β limited efficacy data; Long-term ASMs rarely needed (acute symptomatic seizures, safe to discontinue once symptoms resolve).
Prognosis: Good: normal/mildly abnormal EEG, early recovery <24-36 hours; Bad: burst suppression[β¦], depressed/undifferentiated background, very low voltage. Other ICU parameters: avoid hypoglycemia, hyperthermia, hypoTN, HTN. Low threshold for empiric antimicrobials.
Neurulation Disorders (Weeks 3-4)
Embryology basics: neurulation forms the neural tube during weeks 3-4. Tube fusion begins at the hindbrain[β¦] level and proceeds both rostrally and caudally.
Anencephaly: failure of rostral[β¦] fusion by day 24. Encephalocele: failure of fusion by day 26.
Myelomeningocele[β¦] (most common): Risk factors: gestational diabetes, VPA[β¦], genetics, folic acid deficiency[β¦]; Higher lesions can cause loss of ambulation; Closely linked to Arnold-Chiari II[β¦]: inferior displacement of cerebellar tonsils through foramen magnum + elongation/thinning of upper medulla and pons β brainstem dysfunction (apnea, stridor, cyanotic spells, dysphagia); Treatment: surgery to close lesion <48 hours[β¦]; Prevention: folic acid 0.4 mg/day[β¦] (all women of childbearing age) or 4 mg/day if prior child with NTD.
Prenatal screening: maternal serum Ξ±-fetoprotein[β¦] for open NTDs in 1st trimester.
Gold standard fetal genetic diagnosis: chorionic villus sampling or amniocentesis[β¦].
Prosencephalic and Cortical Development Disorders
Holoprosencephaly: failure of cerebral hemispheres to separate β single large forebrain ventricle.: Most severe form: alobar[β¦] β single spherical brain + facial anomalies (cyclopia to single central incisor[β¦]); Risk factors: gestational diabetes, trisomy 13/18, SHH (sonic hedgehog)[β¦] mutations. Agenesis of corpus callosum: partial (posterior more affected) vs complete; isolated vs complex.
Septo-optic dysplasia: OTX or HESX[β¦] (homeobox) mutations β triad of optic nerve hypoplasia, pituitary dysfunction, absent septum pellucidum[β¦]. Microcephaly: HC >3 SD below normal.
Causes: hypoxic-ischemic, intrauterine infections (CMV, Zika[β¦]), genetic (ASPM, important for mitotic spindle).
Zika-associated microcephaly: severe microcephaly with partially collapsed skull, thin cortices with subcortical calcifications[β¦], macular scarring, congenital contractures, early hypertonia with EPS.
Hemimegalencephaly: enlargement of one cerebral hemisphere with disorganized lamination, subcortical heterotopia, and balloon neurons[β¦].
Treatment: hemispherectomy[β¦]. Associated with TSC, hypomelanosis of Ito, linear nevus sebaceous.
Focal Cortical Dysplasia and TSC
Tuberous Sclerosis Complex (TSC): TSC1 (hamartin)[β¦] or TSC2 (tuberin)[β¦] mutations β normally control cell growth; Classic: infantile spasms or other seizures + systemic manifestations; MRI: cortical tubers, SEGAs, subependymal nodules[β¦]. Focal Cortical Dysplasia (FCD): medically refractory epilepsy.: MRI: wider gyri + blurred gray-white junction.
Treatment: often epilepsy surgery[β¦]. Type I: abnormal migration with less dysmorphic cells; may be radiographically occult.
Type II: disrupted lamination with characteristic dysmorphic cells (IIa: dysmorphic neurons; IIb: balloon cells[β¦]).
MRI: funnel-shaped T2 lesion with base at pial surface and tip extending into white matter β the "transmantle[β¦]" sign. Type III: FCD associated with another lesion (hippocampal sclerosis, tumor, vascular malformation).
Neuronal Migration Disorders
Pathophys: failure of neuronal migration β neurons end up in incorrect location. Periventricular Nodular Heterotopia: FLNA (filamin A)[β¦] mutation β ectopic neurons form periventricular nodules. MRI: isointense to gray matter (unlike FCD). Intelligence usually normal; epilepsy as teenager.
Lissencephaly: cortical surface smooth from agyria or pachygyria[β¦].
Severe cognitive/motor disability + epilepsy (commonly infantile spasms).: Posterior[β¦]-predominant gradient: LIS1[β¦] mutation; if deleted β Miller-Dieker syndrome[β¦] (with craniofacial/cardiac/kidney/GI issues).
Anterior[β¦]-predominant gradient: DCX (doublecortin)[β¦] mutation (X-linked).
Hemizygous males develop classic lissencephaly; heterozygous carrier females develop subcortical band heterotopia (double cortex)[β¦]. Cobblestone malformations: opposite of lissencephaly β overmigration of neurons beyond disrupted basement membrane and pial surface. Impaired Ξ±-dystroglycan glycosylation.
Associated with congenital muscular dystrophy and eye abnormalities[β¦]. Polymicrogyria: caused by intrauterine CMV and placental perfusion failure.
Most common form: bilateral perisylvian[β¦] polymicrogyria β MCI, epilepsy, pseudobulbar palsy (expressive speech delay, feeding difficulty).
Neurocutaneous - Overview and NF1
Pathway: RAS-MAPK β mTOR[β¦] governs cell growth, proliferation, differentiation, apoptosis.
Skin and nervous system share a common embryonic origin (primitive ectoderm[β¦]) β mutations in this pathway cause neurocutaneous disorders.
Neurofibromatosis Type 1 (most common): NF1[β¦] gene on chromosome 17q11.2 β encodes neurofibromin[β¦] (GTPase-activating protein β downregulates RAS-MAPK). Loss of function β unchecked cell growth.
Skin: cafΓ©-au-lait spots[β¦], axillary/inguinal freckling. PNS tumors: dermal neurofibromas, plexiform neurofibromas (significant disfigurement + malignancy transformation risk).
CNS tumors: optic pathway gliomas[β¦] (WHO grade I pilocytic astrocytomas). Chiasmatic/postchiasmatic more progressive; prechiasmatic more benign. Hypothalamic involvement β precocious puberty.
Eye: Lisch nodules[β¦] (iris hamartomas) β slit-lamp exam.
Vasculopathy: abnormal neurofibromin in endothelial cells β renal artery stenosis β HTN, Moyamoya[β¦], cerebral aneurysms. Kids: ischemic stroke risk. Adults: hemorrhagic stroke risk. MRI: benign nonenhancing T2 hyperintensities in brainstem/BG/thalami/cerebellum (myelin edema, wax and wane).
Legius syndrome: SPRED1[β¦] mutations. Like NF1 (cafΓ©-au-lait, freckling) but no Lisch nodules, no optic gliomas, no neurofibromas.
Neurocutaneous - NF2 and Other
NF2: NF2[β¦] mutations on 22q12 β encodes merlin (schwannomin)[β¦] (tumor suppressor).: Hearing loss, tinnitus, disequilibrium from vestibular schwannomas[β¦] (initially unilateral β bilateral); arise from IAC β expand into cerebellopontine angle[β¦]; Other tumors: meningiomas; spinal schwannomas, meningiomas, intramedullary ependymomas (often cervical); Other: cataracts, axonal > demyelinating polyneuropathy, schwannomatosis (SMARCB1).
Tuberous Sclerosis Complex (TSC): AD inheritance; TSC1 (hamartin)[β¦] or TSC2 (tuberin). TSC1 more familial/milder; TSC2 more sporadic/severe.
CNS: tubers (cortical dysplasia, epilepsy + cognitive impairment), subependymal nodules β SEGAs[β¦] at foramen of Monro β obstructive hydrocephalus.
Treatment: surgery or everolimus[β¦] (mTOR inhibitor).
Epilepsy: infantile spasms or Lennox-Gastaut[β¦].
First-line for TSC-associated infantile spasms: vigabatrin[β¦] (SE: retinal toxicity).
Skin: hypomelanotic macules, facial angiofibromas (malar/perioral), Shagreen patches[β¦] (orange-peel lumbosacral), ungual fibromas.
CV: cardiac rhabdomyomas β outflow obstruction, valvular dysfunction, arrhythmias (WPW[β¦]).
Lungs: LAM (lymphangioleiomyomatosis)[β¦] β dyspnea, hemoptysis, recurrent PTX, chylothorax. Treat with mTOR inhibitors. Kidneys: angiomyolipomas (can hemorrhage; treat mTOR inhibitors), polycystic kidneys (TSC2 + adjacent PKD1), RCC.
Neurocutaneous - Sturge-Weber
Sturge-Weber syndrome: somatic mosaic GNAQ[β¦] mutation on 9q21 (vascular development). Spectrum: isolated port-wine birthmark (mild) β full Sturge-Weber syndrome (severe). Pathophys: disrupted CBF β stasis and chronic hypoperfusion β gliosis, neuron loss, calcification β hemiparesis and visual field cuts.
CNS: leptomeningeal vascular malformation[β¦] in parieto-occipital[β¦] region ipsilateral to birthmark β stroke-like episodes can cause transient deficits that may become permanent. Bilateral involvement = more severe. Epilepsy mostly focal seizures.
Skin: port-wine birthmark[β¦] (capillary malformation in CN V1 (ophthalmic)[β¦] distribution). More likely to involve brain/cause glaucoma if on forehead or upper/lower eyelid. Imaging: MRI brain with contrast showing enhancing leptomeningeal vessels.
Treatment: ASMs β VNS, ketogenic diet, or hemispherectomy[β¦] for refractory; Low-dose ASA can be considered; Ophthalmic screening for glaucoma[β¦] every few months.
Perinatal Ischemic Stroke
Definition: focal arterial/venous infarction between 20 weeks gestation and 28 days old. Symptoms: Acute neonatal: recurrent focal seizures in first few days (mostly MCA[β¦] stroke); Presumed perinatal stroke[β¦]: diagnosed at 4-6 months when hemiparesis/developmental delay becomes apparent; Arterial more common in term[β¦] infants; Venous (periventricular) more common in premature[β¦] infants, earlier in utero.
Diagnosis: MRI brain with DWI[β¦] most sensitive (cranial US has low sensitivity for term ischemic stroke). Routine thrombophilia testing unlikely to change management. TTE if congenital heart disease/cardiac thrombus suspected. Treatment: AC/AP NOT recommended unless ongoing cardioembolic source.
Childhood Stroke - Arteriopathies
Mimics: seizure, migraine, infection, mass lesion, PRES, psychogenic. Hemorrhagic stroke accounts for 1/2[β¦] of all childhood strokes (vs minority in adults). Etiologies: cerebral arteriopathy up to 50%, cardioembolic ~30% (especially post-cardiac surgery).
Cerebral arteriopathies: Focal cerebral arteriopathy[β¦]: narrowing of large/medium arteries; often inflammatory/infectious, strongly associated with VZV[β¦].
Moyamoya[β¦]: progressive steno-occlusive arteriopathy of distal ICA + proximal MCA + ACA β basal lenticulostriate collaterals ("puff of smoke[β¦]").
Associations: sickle cell, trisomy 21, NF1, radiation[β¦].
Treatment: surgical revascularization[β¦].
Sickle cell disease[β¦]: ~25% have cerebral arteriopathy.
Elevated TCD velocity in MCA[β¦] predicts stroke. Prevention: regular RBC transfusions or hydroxyurea.
Cervicocephalic arterial dissection[β¦]: kids may present with ataxia/vomiting (challenging). Treatment: antithrombotics + avoid contact sports. CNS vasculitis: large-medium vessel (primary); multiple vessel sizes (secondary, often systemic rheumatologic). Thrombophilias: protein S/C deficiency, factor V Leiden, prothrombin G20210A, antithrombin III, APLS Ab, elevated lipoprotein(a). Screen homocysteine (NOT MTHFR testing).
Childhood Stroke - Treatment and CVST
Acute treatment: HOB flat[β¦], adequate IV resuscitation, permissive HTN; Avoid seizures, fevers; Sickle cell stroke: supplemental O2 β exchange transfusion[β¦] definitive; Malignant MCA β decompressive hemicraniectomy[β¦]; Cerebellar infarct with deterioration β suboccipital craniectomy; IV thrombolytics or EVT in select cases.
Secondary prevention: Anticoagulation indicated for: extracranial dissection, cardiac embolism risk, selected hypercoagulable states[β¦]; Anticoagulation AVOIDED in: small-vessel CNS vasculitis + Moyamoya[β¦] (hemorrhage risk); UFH preferred initially (short half-life, reversible with protamine) β LMWH when stable; Aspirin if AC not used.
Cerebral Venous Sinus Thrombosis (CVST): Transverse[β¦] sinus most common, then sagittal. Symptoms: HA most common + seizures, lethargy, CN palsies, vomiting.
Causes: venous stasis, dehydration, hypercoagulable, trauma, infection. ~50% from asparaginase chemotherapy[β¦] (induces antithrombin III deficiency). Also exogenous estrogen.
Diagnostics: MRI with contrast-enhanced T1[β¦] (CT poor sensitivity even with contrast). Treatment: AC for minimum 3 months (UFH or LMWH initially). ICU monitoring especially for deep venous involvement. Decompressive craniectomy if large venous infarcts + ICP. IVT/EVT if no improvement on AC. Urgent LP if vision loss from intracranial HTN.
Epileptic Encephalopathies - Overview and Ohtahara
Definition: epileptic encephalopathies are where the epileptic activity itself (ictal or interictal) impairs cognitive/behavioral function above and beyond[β¦] what's expected.
Distinguished by: age of onset, seizure type(s), and characteristic EEG patterns[β¦].
Ohtahara syndrome (aka Early Infantile Epileptic Encephalopathy): Onset: neonatal[β¦]; Seizures: tonic spasms[β¦], in clusters with hundreds/day; Interictal EEG: burst-suppression[β¦] (high-amplitude spikes alternating with electrographic suppression); Structural etiologies: hemimegalencephaly, cortical dysplasia; Metabolic: nonketotic hyperglycinemia, pyridoxine dependency, mitochondrial; Treatment: limited efficacy of ASMs and ketogenic diet; Prognosis: poor β many transition to Lennox-Gastaut syndrome[β¦].
Early myoclonic encephalopathy: Neonatal onset; fragmentary focal myoclonia; EEG: burst-suppression[β¦] (nearly identical to Ohtahara); Key distinction: more frequently attributed to metabolic[β¦] issues (especially nonketotic hyperglycinemia). Epilepsy of infancy with migrating focal seizures: First few months of life. Focal seizures from multiple sites that migrate within and between hemispheres.
Genetics: KCNT1[β¦] (voltage-gated potassium channel) most common. Treatment: target K+ channels. Very poor prognosis.
West Syndrome and Dravet
West syndrome (infantile spasms): Triad: epileptic spasms + hypsarrhythmia + neurodevelopmental regression[β¦]; Onset: 3-12 months; Hypsarrhythmia[β¦]: very high amplitude (up to 500 ΞΌV), asynchronous slow waves + multifocal spike/polyspike + electrodecremental response with superimposed fast activity; Spasms in clusters on awakening; flexor, extensor, or mixed; Genetic associations: TSC, Down syndrome, ARX (Lissencephaly)[β¦]; Treatment: ACTH, prednisolone, vigabatrin[β¦] (vigabatrin especially effective for TSC).
Dravet syndrome (Severe Myoclonic Epilepsy of Infancy): Typically SCN1A[β¦] mutations; associated with status epilepticus and SUDEP[β¦]. Highly sensitive to elevated temperature (fever).
Initially hemiconvulsive febrile seizures (alternating side is characteristic) β recurrent febrile + afebrile myoclonic/focal/generalized β medically intractable with cognitive decline and "crouch[β¦]" gait by adolescence. Unlike LGS: rarely have tonic seizures. Triggers: fever, hot water immersion, intense activity, visual patterns, photosensitivity.
Treatment: VPA + clobazam + ketogenic diet[β¦].
AVOID sodium channel blockers[β¦] in Dravet (SCN1A) β they worsen seizures. Effective in SCN2A/8A epilepsies.
Pediatric Sleep - Narcolepsy
Pathophys: Type 1: loss of hypocretin (orexin)[β¦] neurons in lateral hypothalamus β CSF hypocretin <110[β¦]. ~90% positive for HLA-DQB1*0602[β¦] (nonspecific). Triggers: infection or vaccine. Type 2: etiology unknown.
Subtypes: type 1 (with cataplexy[β¦]) vs type 2 (without).
Symptoms: Excessive daytime sleepiness with rapid REM entry; kids may present with hyperactivity/irritability/emotional lability; Hypnagogic/hypnopompic hallucinations (visual); Sleep paralysis[β¦] on awakening; Cataplexy[β¦]: transient loss of skeletal muscle tone with retained consciousness; triggered by strong emotion (laughter in kids); Pediatric atypical cataplexy: positive motor phenomena (dyskinesia-like). Comorbidities: obesity + precocious puberty; OSA, PLM, RBD; ADHD, depression, anxiety, OCD.
Diagnosis: Overnight PSG + daytime MSLT[β¦]. MSLT: 5 naps at 2-hr intervals; abnormal = mean latency <8 min + >2 SOREMPs.
SOREMP[β¦] = REM within 15 min of sleep onset. LP/CSF hypocretin-1 <110.
Treatment: Behavioral: sleep hygiene + brief scheduled naps; EDS: 1st line stimulants[β¦] (methylphenidate, amphetamines) β modafinil/armodafinil (not FDA-approved <17 yo; SE Stevens-Johnson); Cataplexy: antidepressants (SSRIs, SNRIs, TCAs)[β¦]; Sodium oxybate[β¦] for any of the above (monitor for sleep-disordered breathing/hypoventilation/mood).
Pediatric Sleep - Other Disorders
Insomnia: most common; very prevalent with ADHD and ASD. Pathophys: hyperaroused[β¦] state. For chronic: symptoms >3 days/week for >3 months.
Treatment: CBT-I[β¦] β off-label melatonin, trazodone, clonidine, antihistamines.
RLS and PLMD: RLS: dysesthesia + urge to move + worse with rest + circadian (evening peak)[β¦]. PLMD: periodic stereotyped limb jerks (0.5-10s) at 20-40 sec intervals with extension of big toe + partial flexion of ankle/knee/hip.
PLMD index >5/hr[β¦] in children.
Pathophys: often genetic; iron deficient (ferritin <50) β Fe is cofactor for tyrosine hydroxylase[β¦] (rate-limiting in DA synthesis). Iatrogenic: antidepressants, lithium, DA antagonists, caffeine. Treatment: reduce exacerbating factors + iron supplementation (3 months, recheck ferritin) + dopaminergic agents or gabapentin.
Parasomnias (non-REM): Confusional arousals, sleep terrors (preschool kids with autonomic activation + mydriasis[β¦]), sleepwalking.
Occur in first few hours[β¦] of sleep when slow-wave sleep predominates. Triggers: sleep deprivation, alcohol, benzo withdrawal. vs Nocturnal Frontal Lobe Epilepsy: stereotyped motor patterns <2 min + abrupt onset/offset + any time of night + EEG often normal. Treatment: reassurance + safety + address triggers.
Clonazepam[β¦] if frequent/severe/injurious. OSA: Snoring, observed pauses/choking/gasping, mouth breathing, abnormal sleep positions, daytime mood/cognitive issues.
Etiology: obesity + adenotonsillar hypertrophy[β¦]; high-risk in Down syndrome, Prader-Willi, NM disorders.
Arnold-Chiari can cause both OSA and central sleep apnea[β¦]. Diagnosis: PSG with AHI >1 event/hr.
Treatment: weight loss, CPAP, adenotonsillectomy[β¦], oral appliances. Treat AHI >5; monitor AHI 1-5.
Intellectual Developmental Disorder Evaluation
Definitions: Developmental delay[β¦]: developmental quotient <70%; Global developmental delay[β¦]: delay in >2 domains in kids <5 yo; Intellectual disability[β¦]: limitations in intellectual functioning and adaptive behavior; IQ <70 in kids >5 yrs; Language[β¦] domain delays particularly predict future intellectual disability risk. Etiology: mostly genetic; X chromosome implicated; de novo mutations are the main cause of severe IDD. Evaluation: IQ testing reliable from age 5; watch for plateauing or regression; Confirm phenotyping, hearing test, wood lamp, neuro exam, and 3-generation pedigree.
1st-tier testing: Chromosomal microarray[β¦] (replaced karyotyping); Metabolic testing (TIDE[β¦] protocol); MRI if abnormal exam + proton MRS (especially for creatine[β¦] disorders).
2nd-tier testing: whole exome or whole genome sequencing; trio analysis[β¦] essential (most causal variants are de novo).
Fragile X: requires FMR1[β¦] gene CGG repeat analysis (full mutation >200 repeats) β NOT detected by microarray or whole-exome sequencing.
Autism Spectrum Disorder
Two diagnostic domains (must be present in early developmental period): Domain 1 β social communication: Deficits in social-emotional reciprocity, social initiation/response/turn-taking; Lack of reciprocal social smile, response to name, engagement in interactive games, imitation; Nonverbal[β¦] communication: eye contact, tone, body language, gestures, joint attention; ASD children do not[β¦] compensate for verbal deficits with nonverbal strategies (unlike developmental language disorder); Deficit in theory of mind[β¦]; overly literal language.
Domain 2 β restricted/repetitive behaviors: Stereotypic movements (hand flapping, rocking, spinning, toe walking[β¦]); Echolalia[β¦]; Inflexibility with routines β tantrums with change; Unusual/intense interests; perseverative attachment to objects; Sensory reactivity (over- or underreactivity).
Comorbidities: TSC, Fragile X, NF1, Angelman/Prader-Willi, Down[β¦].
Diagnostics: Formal audiologic[β¦] evaluation for all with language delay or ASD; Test for lead poisoning[β¦] in oromotor stage/pica; Chromosomal microarray + Fragile X[β¦] testing; EEG if regression (assess for Landau-Kleffner); MRI if microcephaly, hypertonia, focal exam.
Treatments: Gold standard: Applied Behavioral Analysis (ABA)[β¦]; Early Intervention Program (EIP); PT/OT/speech therapy + CBT for comorbid mental health; FDA-approved for irritability/aggression: risperidone and aripiprazole[β¦] (atypical antipsychotics); Other targets: SSRIs (anxiety/OCD), Ξ±-agonists/stimulants (ADHD), melatonin (sleep).
Neonatal Epilepsy Syndromes
Benign neonatal seizures (Fifth-day fits): Self-limited seizures within first week (days 4-6[β¦]); Unifocal clonic seizures; resolve after ~2 days; EEG: "theta pointu alternant[β¦]" β nonreactive, discontinuous, focal theta with sharp waves; Treatment: acute management only; favorable outcomes.
Benign familial neonatal epilepsy: Onset days 2-3, otherwise healthy; AD inheritance; KCNQ2/KCNQ3[β¦] K+ channel mutations; Note: KCNQ2 spectrum ranges from benign familial neonatal epilepsy to severe epileptic encephalopathy[β¦].
Early-onset epileptic encephalopathies: Ohtahara[β¦]: tonic seizures + burst suppression on EEG (persistent in wake and sleep) + structural malformations; Early myoclonic[β¦] encephalopathy: myoclonic seizures + burst suppression more evident in sleep + more often metabolic (glycine encephalopathy, pyridoxine dependency, biotinidase deficiency, Leigh); Both can progress to West or Lennox-Gastaut[β¦].
Infantile and Childhood Epilepsy Syndromes
Benign myoclonic epilepsy in infancy: triggered by sensory stimuli (tactile, auditory, photic β reflex epilepsy[β¦]). EEG: 3-4 Hz generalized spike/polyspike-and-wave + photoparoxysmal response.
Benign familial infantile epilepsy: PRRT2[β¦] AD inheritance. Pharmacoresponsive with good prognosis. Later may develop paroxysmal kinesigenic dyskinesia, episodic ataxia, or familial hemiplegic migraine. HHE (Hemiconvulsion-Hemiplegia-Epilepsy) syndrome: <4 yo, prolonged unilateral convulsions (super-refractory SE) during febrile illness β hemiparesis β progressive cerebral hemiatrophy β intractable epilepsy.
Associated: SCN1A, CACNA1A[β¦].
GEFS+ (Genetic Epilepsy with Febrile Seizures Plus): AD; SCN1A/SCN1B or GABRG2[β¦]; often remits by adolescence. May overlap with Dravet and Doose. Sodium channel blockers potentially harmful.
Panayiotopoulos syndrome (Early-Onset Childhood Occipital Epilepsy): 3-6 yo onset; most prominent symptoms = autonomic[β¦] (vomiting during sleep, urinary dysfunction, pallor, syncope). EEG: shifting multifocal spikes in occipital region. Doose (Myoclonic-Atonic) syndrome: 1.5-5 yo, peak 3 yo. Symmetric myoclonic jerks β loss of tone β falls.
Treatment: VPA, ethosuximide, benzos, ketogenic diet[β¦] particularly helpful. BECTS (Benign Rolandic Epilepsy): 4-11 yo, remits by 14-16 yo.
Seizures shortly after sleep onset/before awakening with unilateral tongue/mouth paresthesias[β¦] β dysarthria/gagging β ipsilateral facial jerking + drooling.
EEG: normal background + high-voltage centrotemporal spikes (rolandic)[β¦] with tangential dipole, increased in drowsy/non-REM.
Childhood and Adolescent Epilepsy Syndromes
Late-onset childhood occipital epilepsy (Gastaut type): peak 8-11 yo. Visual hallucinations + ocular pain + transient vision loss β postictal HA. EEG: bilateral occipital spike-and-wave activated by eye closure, attenuated by eye opening (fixation off phenomenon)[β¦].
Childhood Absence Epilepsy (Pyknolepsy): 4-10 yo, peak 5-7 yo.: Onset <4 yo: consider GLUT1 deficiency[β¦].
Pathophys: CACNA1A, GABRG2, GABRG3[β¦] mutations β cortico-thalamic dysfunction; nucleus reticularis thalamus oscillates via T-type Ca+2 channels. Typical absence: behavioral arrest/staring + automatisms.
EEG: generalized bilateral synchronous 3-4 Hz[β¦] spike-and-wave, frontal dominant; abrupt onset/offset.
Hyperventilation[β¦] activates.
Treatment: T-type Ca+2 blockers β ethosuximide[β¦] first-line, or VPA.
GABAb agonists (vigabatrin)[β¦] can worsen. JAE (Juvenile Absence Epilepsy): peak 15 yo. Absence seizures more sporadic and longer than CAE. EEG: 3-4 Hz spike/polyspike. Treatment: ethosuximide for absence + VPA or lamotrigine.
Avoid phenytoin, carbamazepine, gabapentin/pregabalin, vigabatrin[β¦].
JME (Juvenile Myoclonic Epilepsy): most constant feature is myoclonic seizures upper extremities on awakening[β¦] β majority develop GTC + absence.
EEG: 4-6 Hz[β¦] generalized spike/polyspike-and-slow-wave (inverted W) potentiated by sleep deprivation. Treatment: VPA (avoid in women of childbearing age) or keppra/lamotrigine. Avoid same drugs as JAE. Mesial temporal lobe epilepsy with hippocampal sclerosis: Childhood-adolescence; associated with prior febrile SE. Pathology: atrophy + gliosis of hippocampus, amygdala, parahippocampal gyrus, entorhinal cortex.
Auras (dΓ©jΓ vu, fear, rising epigastric, bad odors/tastes)[β¦] β behavioral arrest + vacant stare + impaired responsiveness + automatisms[β¦]. Lateralizing: ipsilateral hand automatisms + contralateral dystonic posturing.
Ictal speech localizes to nondominant[β¦] hemisphere; postictal nose wiping uses ipsilateral hand.
Treatment: relatively unlikely to respond to ASMs β epilepsy surgery[β¦]; seizure freedom in 90% after temporal lobectomy.
Progressive Myoclonus Epilepsies
Onset: adolescence; myoclonus + cognitive regression + ataxia. Subtypes: Unverricht-Lundborg[β¦]: AR; cystatin B gene; no neuronal inclusions; Lafora[β¦] body disease: AR; NHLRC1 (laforin) gene; PAS-positive polyglucosan[β¦] inclusions; also vision loss; MERRF[β¦] (myoclonic epilepsy with ragged red fibers): mitochondrial; ragged red fibers[β¦] on Gomori trichrome; also neuropathy and myopathy; Neuronal ceroid lipofuscinoses: lysosomal storage; CLN1-CLN10 mutations; various inclusions; vision loss, pharmacoresistant.
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy: early adolescence; CHRNA/B[β¦] (neuronal nicotinic ACh receptors).
Brief complex hypermotor[β¦] seizures in clusters during sleep. EEG often normal β needs overnight vEEG.
Pediatric Neurocritical Care
Seizures in ICU: cEEG[β¦] ASAP for at least 12-24 hours; Treatment: 2 doses benzo[β¦] β keppra, phenobarbital, or fosphenytoin; Identify underlying cause + empiric therapies + manage temperature, BP, ventilation.
Stroke in ICU: Common risk factors: cardiac disease, infection, cerebral arteriopathy; Majority of spontaneous hemorrhagic strokes from vascular malformations[β¦]; AIS: HOB flat + mIVF + permissive HTN to augment CBF; target temp <37Β°C; AC more often than adults[β¦] (embolic); Hemorrhagic stroke: HOB elevated for CSF drainage + hyperosmolar therapy + prevent fevers/seizures + target normotension.
Cardiac arrest in ICU: most common in kids = progressive tissue hypoxia/acidosis from respiratory failure and circulatory arrest.: HOB flat Γ 24h[β¦] to maintain CPP (unless cerebral edema β HOB >30); Target temp 35.5Β°C Γ 2-3 days[β¦]; TCD β₯3 days to monitor CBF and adjust BP/HOB.
ECMO: highest risk = heart disease + severe acidosis before ECMO + neonates[β¦]. cEEG during first 24h.
Acute liver failure: risk factors for neuro deterioration = young age + fever + presentation with seizures.: Hepatic encephalopathy grading: stage 0-2 (subtle changes, sleep-wake disruption) β 3 (stupor) β 4 (coma); EEG background changes early sign in kids; cEEG on admission for all (minimum 1-2 hours); Treatments: prevent fever + treat infection; if rising ammonia not responsive to lactulose β early CRRT or HD[β¦]; stage 3 β hyperosmolar therapy or therapeutic hypothermia. Paroxysmal Sympathetic Hyperactivity: episodic hyperthermia + HTN + tachycardia + tachypnea. Especially common with post-TBI or cardiac arrest.
Rule out other causes (dystonia storm, urinary retention, ileus/constipation[β¦]).
Treatment: gabapentin β scheduled benzo β clonidine or propranolol[β¦].
Practice Q - Alexander Disease
Alexander disease is almost always caused by mutations in the gene coding for glial fibrillary acidic protein (GFAP)[β¦], the principal intermediate filament protein of astrocytes[β¦].
Practice Q - DMD Mother Symptoms
The most likely symptom in a female carrier (mother) of a boy with X-linked adrenoleukodystrophy is walking[β¦] difficulty due to progressive adult-onset myelopathy[β¦] and/or peripheral neuropathy. Adrenal insufficiency and seizures are rarely seen in affected women.
Practice Q - Dravet Lamotrigine Contraindication
In Dravet syndrome (SCN1A-related epilepsy), lamotrigine[β¦] is contraindicated because it blocks sodium channels and can worsen seizures, especially myoclonic[β¦] types.
Practice Q - TSC Vigabatrin Visual Field Loss
Any patient with TSC on vigabatrin[β¦] requires regular ophthalmic[β¦] evaluation due to high risk of irreversible visual field[β¦] loss.
Practice Q - Lennox-Gastaut EEG
Childhood-onset intellectual disability, tonic and atonic seizures, and an EEG with nearly continuous slow 2-Hz spike-and-wave[β¦] discharges is typical for Lennox-Gastaut[β¦] syndrome.
Practice Q - Hyperekplexia
A hypertonic infant with exaggerated startle response[β¦], tonic stiffening after stimulation, no EEG correlate, and relief with truncal flexion most likely has hyperekplexia[β¦].
The classic maneuver to stop an episode is the Vigevano[β¦] maneuver.
Practice Q - NF1 Optic Pathway Glioma
In the absence of visual symptoms, a child with NF1 and an optic pathway glioma[β¦] should have regular observation and surveillance MRI[β¦] rather than immediate intervention.
Practice Q - Acute Neonatal Seizure Treatment
Acute neonatal seizures are best treated initially with phenobarbital[β¦], given as a 20[β¦] mg/kg IV loading dose.
Maintenance: 3-5 mg/kg/day[β¦]. Second-line: keppra, fosphenytoin, midazolam.
Practice Q - Lead Poisoning
Chronic irritability, abdominal pain, vomiting, basophilic stippling[β¦] of RBCs, and progression to seizures and cerebral edema is classic for lead[β¦] poisoning in children.
Practice Q - Infantile Botulism
Infantile botulism causes reduced CMAP amplitude from inhibition of ACh vesicle release[β¦] from the presynaptic[β¦] nerve terminal at the NMJ; conduction velocity usually stays normal.
Practice Q - Pompe Disease vs SMA
A 2-month-old with poor feeding, hypotonia, hyporeflexia, respiratory distress, and cardiomegaly[β¦] most likely has acid maltase (Pompe)[β¦] disease, a rapidly progressive infantile-onset glycogen storage disorder.
SMA, myasthenia, and myotonic dystrophy do not[β¦] present with early cardiomegaly.
Practice Q - SMA Type 1 in Infant
Progressive weakness, severe head lag, tongue fasciculations[β¦], preserved finger movement, areflexia, and normal eye[β¦] movements in a 5-month-old are diagnostic for SMA Type 1[β¦].
Practice Q - Dopa-Responsive Dystonia
In a child with progressive dystonia and normal cognition, levodopa[β¦] is the treatment of choice to identify and treat dopa-responsive (GCH1)[β¦] dystonia. Trihexyphenidyl, baclofen, and diazepam are considered for symptomatic treatment if levodopa fails.
Practice Q - Benign Paroxysmal Torticollis
Benign paroxysmal torticollis of childhood is an episodic migraine-associated syndrome leading to increased risk for cyclic vomiting[β¦], abdominal migraine, and BPPV later in life.
Practice Q - Opsoclonus-Myoclonus
Opsoclonus[β¦] (rapid conjugate eye movements) in an infant is most likely due to underlying neuroblastoma[β¦], the classic tumor linked to opsoclonus-myoclonus-ataxia syndrome in childhood.
Practice Q - Sickle Cell Stroke Prevention
The best way to prevent more strokes from sickle cell vasculopathy is chronic exchange transfusions[β¦] to lower hemoglobin S[β¦] and stop sickled cells from blocking brain vessels. Antiplatelets are not effective.
Practice Q - Apnea Test Confirmation
The final required step to confirm brain death is apnea testing[β¦] showing no respiratory effort as CO2 rises in a patient with a complete absence of brainstem reflexes and a known, irreversible brain injury. Ancillary tests such as EEG or MRI are not needed unless apnea testing cannot be done or interpreted.