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. SPECT was abnormal in six patients. Magnetic resonance and/or CT studies were abnormal in two of the six patients. The other four patients with abnormal SPECT imaging studies had four magnetic resonance and two CT studies that were normal. The SPECT abnormality corresponded to EEG localization in each of the six cases. Lesions localized on SPECT were in or near the temporal lobes. Five other patients with normal SPECT had well-localized abnormalities on EEG. Four magnetic resonance and five CT studies were also negative in these five cases. Four patients whose EEGs did not show adequate lateralization had four normal SPECT, two normal CT, and three normal magnetic resonance studies. In children as in adults, IMP SPECT imaging shows promise in the localization of seizure foci in or near the temporal lobes.

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. This study reports on a standardized differential diagnostic battery conducted on 44 children diagnosed as having neurofibromatosis. Results of the neuroaudiologic battery indicated that 32% of the children had significant abnormalities on ABR and acoustic reflex dynamic tests. This is a substantially higher prevalence of abnormalities than reported by another group at a recent NIH concensus meeting on neurofibromatosis. Discussion of the implications of these findings regarding evaluation protocols, as well as management for this select patient population, will follow.

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. The manifestations of the disease are protean with hepatosplenomegaly and bone deterioration frequently the predominating signs. The disease most frequently causes disability because of its effects on the skeleton. This review seeks to summarize the current clinical understanding of these complications. Experience with 327 patients reveals that the bone disease in this disorder is extremely variable. The severity of the problems range from asymptomatic persons with neither radiographic, scintigraphic, nor histologic evidence of bone involvement to those whose skeleton is completely devastated by a process of osteopenia, osteonecrosis, and osteosclerosis. These severely affected individuals show the most bizarre deformities in their bones and are subject to pathologic fracture. Most patients fortunately, are less profoundly affected, but many are plagued by bone pain of an arthritic nature or by an acute prostrating bone crisis probably best described as a bone infarction. The accepted etiology that these crises are a result of vascular compromise produced by occlusion of vessels by Gaucher cells is not supported by scintigraphic or histologic studies. Moreover, the vascular hypothesis does not explain the variety of lesions of the skeleton seen in this multifocal bone disease. Preliminary metabolic and endocrinologic studies suggest that this is not a systemic disorder of metabolism which affects bone uniformly. On the contrary, the lesions are multiple and localized, and sometimes much of the skeleton is preserved. These observations suggest that bone is affected because of collections of Gaucher cells scattered throughout its substance and may be the result of a toxic process around these foci. Alternatively, the storage of glucocerebroside in tissue macrophages may disturb the generation of competent osteoclasts and thus result in a failure to maintain a healthy skeleton. Further research is needed to delineate the pathogenesis of this disorder before any effective therapy can be developed.

Gaucher disease: hepatic abnormalities in 25 patients.

Twenty-five patients with enzymatically confirmed Gaucher disease were selected for study of hepatic complications of the disorder. Hepatomegaly was noted clinically and confirmed by radioisotopic scan in all but 1 patient. The majority had abnormalities of serum transaminase, alkaline phosphatase, and sulfobromophthalein (BSP) clearance. Three patients had evidence of portal hypertension. Light microscopic examination of liver showed some variation in the pattern of the disease. Gaucher cells were present in all specimens. In 5 patients the distribution was in scattered foci throughout the liver lobule. In 14 patients there was prominent centrilobular accumulation of Gaucher cells. Extensive replacement of liver by storage cells and cirrhosis was documented in 3 patients. No patient was found to have amyloid deposits. The severity of hepatic involvement correlated with the occurrence of other severe complications of the disorder. The wide range of liver abnormalities in Gaucher disease should be considered in evaluating patients for participation in experimental therapeutic trials.