Reversal of brain atrophy with biotin treatment in biotinidase deficiency.

Two children with biotinidase deficiency presented with seizures at 2 months of age. The first child had a fluctuating course with continual developmental progress and cessation of seizures despite symptoms of chronic neurologic dysfunction until he was diagnosed at 17 months. The second child had a progressive course with uncontrolled seizures leading to an unresponsive state until she was diagnosed at 6 1/2 months. Neither child had dermatologic symptoms until shortly before the time of diagnosis. Both children improved markedly with biotin treatment. Serial CT-scan and MRI studies of the brain showed a distinct pattern of changes. Shortly after initial presentation, diffuse low attenuation of the white matter was seen followed by progressive marked cerebral atrophy, which was reversed following biotin treatment. Because this is a reversible condition, clinicians should screen for biotinidase deficiency in all children with symptoms of chronic neurologic dysfunction, especially when radiologic findings of low attenuation of the white matter are followed by cerebral atrophy.

Survival after chloroquine ingestion in a child.

We report the case of a 17 month old, 14 kg male who ingested 4 grams of chloroquine phosphate. He developed ventricular fibrillation and cardiovascular collapse 1 hour after the ingestion. After resuscitation he was treated with diazepam 2 mg/kg acutely, and 0.25 mg/kg/hour for 4 days with no further cardiac electrophysiologic abnormalities. Gallium-67 scan showed increased radionuclide uptake in heart and renal cortex, but there was no clinical evidence of myocardial or renal dysfunction at the time of the scan. He survived with severe neurologic sequelae from the cardiovascular collapse. He had dynamic peripheral neuropathy and progressive loss of retinal function, as evidence of ongoing chloroquine neurotoxicity.

Schilder's disease: additional aspects and a therapeutic option.

An 8-year-old boy presented with large diffuse myelinoclastic bifrontal and right parietal peripherally enhancing white matter lesions with high intracranial pressure. Intravenous treatment with ACTH and high dose cyclophosphamide (cytoxin) resulted in shrinkage of the lesion, loss of peripheral enhancement and clear clinical improvement. After nine months following the onset of the first episode, an isolated left frontal enhancing lesion appeared along with a new right hemiparesis and speech difficulty. The same therapy again resulted in prompt definitive improvement of the CT scan and reversal of the clinical course. This case was extensively investigated and characterized as the 1912 variety of Schilder's disease, to be distinguished from post-infectious encephalopathy and other forms of white matter disease such as adrenoleukodystrophy. No elevation of CSF IgG, oligoclonal bands, or characteristic abnormality of T-cell subset distribution were identified. However, the pathological picture most closely resembled that of multiple sclerosis. A striking feature of this child's clinical history was the relatively rapid clinical improvement with immunosuppression.

Nonketotic hyperglycinemia in two retarded adults: a mild form of infantile nonketotic hyperglycinemia.

Two mentally retarded adults with nonketotic hyperglycinemia had biochemical findings similar to those of the infantile form of the disease. Our patients differ from other adult patients and may represent the survival to adulthood of individuals with a mild form of infantile nonketotic hyperglycinemia.