Rett syndrome is a progressive neurologic condition, affecting only girls and characterized by acquired microcephaly, dementia, seizures, autistic behavior, spontaneous hyperventilation, spasticity, hyperreflexia and a peculiar characteristic stereotypic movement disorder. A review of 35 EEGs (obtained over 0-8.5 years of follow-up) in 9 such patients… (More)
We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.
A 23-month-old boy with progressive muscle weakness and severe cardiomyopathy was found to have oil red O positive vacuoles predominantly in type 1 muscle fibers. Serum carnitine was normal, but muscle carnitine content was decreased. Both parents were clinically normal, but the muscle carnitine level was low in the father. Despite oral treatment with… (More)
Electrophysiologic dichotomy of abnormal EEGs, as reported by us previously, and normal evoked potentials, as reported in this communication, in patients with Rett syndrome, suggests a predominant gray matter pathophysiologic insult in this serious condition of unknown etiology.
Two brothers had nonobstructive hypertrophic cardiomyopathy, mental retardation, and vacuolar myopathy, and their mother died of cardiopathy at age 31. Seven families with this syndrome have been described; heredity appears to be X-linked dominant or autosomal dominant, with different expressivity in males and females. The biochemical cause of this… (More)
Recent electrophysiologic studies have focussed attention on the X-linked adrenoleukodystrophy (ALD) and its myeloneuropathic variant. No organized studies are, however, yet available on its relatively recently described neonatal variant. We conducted electroencephalographic, electroretinographic and evoked response studies in 2 patients with neonatal ALD.… (More)
Eleven electroencephalograms in 4 infants with urea-cycle disorders were reviewed. All infants had one or more abnormal EEGs. The abnormalities consisted mainly of multiareal spikes, spike-waves, or sharp-and-slow-wave activity. In addition, one patient, a term infant, exhibited exaggerated spindle-delta bursts. This infant, and also one other at a similar… (More)
A 14-year-old boy developed alopecia totalis shortly after a pertussis-like illness and, subsequently, developed chronic lymphocytic thyroiditis and diffuse polyneuritis.