I-123 iofetamine single photon emission tomography in school-age children with difficult-to-control seizures.

Interictal I-123 iofetamine (IMP) single photon emission tomography (SPECT) was performed in 15 children with difficult-to-control partial or generalized seizures. SPECT studies were compared with magnetic resonance imaging and CT in seven patients, with magnetic resonance imaging only in five, and with CT only in three. Electroencephalography was performed on all subjects, including invasive studies in nine.

Neuroaudiologic abnormalities in patients with type 1 neurofibromatosis.

Although the protean manifestations of neurofibromatosis have been studied for many years, much is yet to be learned about this disease in young children. Specifically, little is known about the prevalence and significance of early neurotologic abnormalities in this population. Our review of the recent literature, however, failed to identify any publication on the use of ABR and acoustic reflex testing in the pediatric neurofibromatosis population.

Summary of patient data from a multidisciplinary neurofibromatosis clinic.

The Neurofibromatosis Clinic of the Children's Hospital Medical Center in Cincinnati, Ohio, is a multidisciplinary clinic which provides comprehensive care for persons affected with neurofibromatosis. Data are presented on 78 patients who fulfill the diagnostic criteria for neurofibromatosis-1. The information reported includes patient characteristics, complications and testing results.

Skeletal complications of Gaucher disease.

Gaucher disease is a collection of related disorders of sphingolipid catabolism caused by the deficiency of a specific beta-glucosidase. The inefficiency of this enzyme, glucocerebrosidase, to degrade its natural substrate leads to the accumulation of the complex lipid glucocerebroside in tissue macrophages. The pathogenesis of the disease is, as yet, poorly understood.