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The patient is a 9-month-old preterm boy (31 weeks gestational age) with infantile spasms for whom consultation was requested to assess new-onset abnormal eye movements.

A 10-year-old, right-handed boy with a several-day history of fever and upper respiratory symptoms presented with acute onset headache, emesis, progressive mental status change, and right-sided focal seizures. Symptoms developed over approximately 3 hours. There was no history of recent toxic or medication exposures, travel, immunizations, sick contacts, insect bites, or animal exposures. The general review of systems was negative. ### Question for consideration: 1. What is your initial differential diagnosis based on this information? Initial differential diagnosis should include infection (encephalitis or meningitis), inflammation (connective tissue disease/autoimmune disease, primary or secondary vasculitis, antineuronal antibody mediated encephalopathy), demyelination (e.g., acute disseminated encephalomyelitis), a vascular event (ischemic or hemorrhage), and a malignancy such as a glioma or lymphoma. The patient was loaded with phenytoin and treated empirically with acyclovir and antibiotics while further history was obtained. He was the product of a normal pregnancy and term delivery. His developmental history was normal. Two years prior, he had a similar episode of fever and encephalopathy, which was associated with left-sided focal seizures and left hemiparesis. CT at that time demonstrated swelling of the right temporal lobe. He was presumptively diagnosed with herpes encephalitis, and received a full course of acyclovir. CSF herpes simplex virus (HSV) PCR was negative on 2 occasions. At his …

The patient is a 7-year-old girl with a history of repaired gastroschisis and short gut syndrome. She presented with a 4-day history of progressive encephalopathy, truncal ataxia, and omnidirectional gaze-evoked nystagmus. Peripheral lactate was 7.1 mmol/L. Serum thiamine level was decreased (

Article abstract Docosahexaenoic acid (DHA) deficiency has recently been documented in several children with long-chain l-3-hydroxyacyl-coenzyme A dehydrogenase deficiency (LCHADD). We studied a 13-year-old boy with LCHADD who had limb girdle myopathy, recurrent myoglobinuria, and progressive sensorimotor axonopathy with demyelination. At 11 years of age, he was started on cod liver oil extract, high in DHA content. Over 12 months, he demonstrated a marked clinical recovery. Nerve conduction studies (NCS) demonstrated reappearance of previously absent posterior tibial and peroneal nerve responses and the amplitudes on motor ulnar and median NCS markedly increased from 7- to 14-fold, respectively.

Objective: To determine an underlying genetic defect within the differential diagnosis of congenital multicore myopathy. Background: A 13.5-year-old girl presented with congenital-onset facial and neck weakness, slowly progressive severe limb girdle and axial myopathy, respiratory weakness, cardiomyopathy, progressive joint contractures, lumbar lordosis, progressive external ophthalmoplegia with ptosis, and cataracts. Muscle biopsy at 3 years revealed type I fiber predominance and hypotrophy, multicores with a focal decrease in mitochondria and oxidative enzymes, and internal nuclei. Methods and Results: Serum carnitine was decreased (total, 18.2 μmol/L; free, 11.7 μmol/L). Urine organic acids intermittently revealed very large amounts of ethylmalonic and methylsuccinic acids intermittently, with elevated butyrylglycine, 2-methylbutyrylglycine, and tiglylglycine. Fibroblast acylcarnitine profiles revealed marked butyrylcarnitine elevation. Electron-transferring flavoprotein-linked reduction enzymatic assay of fibroblasts with butyryl–coenzyme A (CoA) as substrate, after immunoinactivation of medium-chain acyl–CoA dehydrogenase activity, revealed a complete absence of short-chain acyl–CoA dehydrogenase (SCAD) activity. No SCAD protein was detectable with Western blot analysis. Conclusions: This patient expands the clinical phenotype of SCAD deficiency and emphasizes the need for its consideration in the differential diagnosis of progressive external ophthalmoplegia and congenital multicore myopathy.