Intermittent ataxia and immunodeficiency with multiple carboxylase deficiencies: a biotin-responsive disorder.

A small group of inborn errors of metabolism are manifested by intermittent cerebellar ataxia. We have previously reported a family with an inherited metabolic defect resulting in multiple carboxylase deficiencies which were responsive to pharmacological doses of biotin. Affected children presented with a skin rash, infections, acute intermittent ataxia, and lactic acidosis. Two affected siblings died prior to diagnosis and therapy, and a detailed postmortem examination was performed on one of them. The brain was characterized by atrophy restricted to the superior vermis of the cerebellum, a finding strikingly similar to that found in chronic alcoholism. Intermittent ataxia would suggest a potentially treatable metabolic disease, and clinical evaluation should include studies of intermediary metabolism and immune function.

The clinical and pathological spectrum of brain-stem vascular malformations. Long-term course stimulates multiple sclerosis.

Three cases of brain-stem vascular malformation with progressive and fluctuating clinical courses of longer than one year were studied. One patient with a rare brain-stem arteriovenous malformation lived for 20 years with symptoms notably similar to those of multiple sclerosis (MS). One case each of cavernous hemangioma and capillary telangiectasis are also described. The clinical, roentgenographic, and pathologic features of these three cases plus 18 other cases of brain-stem vascular malformations from the literature, with progressive or intermittent clinical courses and with survival of longer than one year from the onset of symptoms, are reviewed. Since nearly all of these cases were once mistakenly diagnosed as MS, a diagnostic approach is proposed to help distinguish brain-stem vascular malformations from MS prior to an obvious subarachnoid hemorrhage.

Progressive multifocal leukoencephalopathy: a complication of immunosuppressive treatment.

Progressive multifocal leukoencephalopathy developed in a patient with rheumatoid arthritis after treatment with an immunosuppressive agent (chlorambucil). We fell that this case lends further support to the concept that an altered immunologic state is important in the appearance of this infection, which is probably viral in origin.

Unilateral megalencephaly: hamartoma or neoplasm?

The clinical and pathologic findings in three cases of unilateral megalencephaly, showing a spectrum of mild to severe involvement, are presented. The first case demonstrated an increase in neuronal size and mild gliosis and is contrasted with the second and third cases, which showed a progressive enlargement and bizarre appearance of neurons associated with an increase in number and size of astrocytes. The relationship of these cases to developmental and neoplastic disease in the brain is discussed.

Progressive rubella panencephalitis. Late onset after congenital rubella.

In children with congenital rubella infection the deficits remain stable; neurologic deterioration after the first few years of life is not believed to occur. We have encountered three patients with a definite or presumptive diagnosis of congenital rubella, in whom a progressive neurologic illness developed that began in the second decade and was characterized by spasticity, ataxia, intellectual deterioration, and seizures. High antibody titers to rubella virus in serum and spinal fluid were present in two, and all had increased cerebrospinal-fluid protein and gamma globulin. Extensive attempts to recover a virus from brain and body fluids were unsuccessful. The brains of two patients showed a widespread, progressive, subacute panencephalitis mainly affecting white matter. These data suggest that rubella virus may be a cause of progressive panencephalitis.