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Sturge-Weber syndrome (SWS) is a neurocutaneous syndrome characterized by a facial nevus flammeus associated with seizures, developmental delay, and, often, with hemiparesis and hemianopia. On MRI, the most characteristic finding has been reported to be leptomeningeal enhancement, believed to represent leakage of contrast medium through the anomalous pial vessels that characterize the disease. We present a case of SWS with no evidence of leptomeningeal enhancement. This case illustrates that leptomeningeal enhancement need not be present in SWS, and the absence of this characteristic finding does not preclude the diagnosis.

The spread of lubricant across the wear track of a pin-disk machine may be adequately modeled assuming axisymmetric, viscous flow with zero shear stress at the lubricant-air interface. Waves can develop according to the shape of the initial profile.

PURPOSE: To review the frequency, distribution, and extent of deep gray matter disease in children with acute disseminated encephalomyelitis. METHODS: The MR examinations of 10 patients, who were discharged with the clinical diagnosis of acute disseminated encephalomyelitis between 1986 and 1992, were retrospectively reviewed. Locations of abnormal signal in the cerebral and cerebellar cortices, white matter, and deep gray matter nuclei were recorded. Precontrast and postcontrast images were compared, when available, to assess degree of enhancement (if any). RESULTS: Six patients had foci of prolonged T2 relaxation in the deep gray matter, ranging in size from less than 1 cm to 4 cm. The caudate heads were involved in 4 patients, caudate body in 3, globus pallidus in 3, putamina in 3, and thalami in 4. In 1 patient, the thalami were involved nearly symmetrically, with mild mass effect. Asymmetric subcortical white matter involvement was present as well. Prolonged T2 relaxation was present within the cerebral cortex in 4 patients and was associated with subcortical white matter abnormality in 3 and more central white matter disease in 1. Nine of 10 patients demonstrated foci of T2 prolongation in white matter, most commonly involving the subcortical region, corona radiata, and centrum semiovale. Three patients also had periventricular foci. Of the 3 patients receiving gadolinium, one showed no enhancement. Two of the patients showed enhancement of some but not all lesions. One patient, who had normal brain MR findings and symptoms of myelopathy, underwent spine MR which demonstrated focal linear areas of T2 prolongation in the spinal cord at levels C-1 to C-2 and T-6. CONCLUSION: Involvement of deep gray matter was common in our small series. The finding of T2 prolongation in these structures does not preclude the diagnosis of acute disseminated encephalomyelitis in the proper clinical setting. Because thalamic involvement is reported to be rare in multiple sclerosis, it may prove useful in distinguishing between acute disseminated encephalomyelitis and the initial presentation of multiple sclerosis.

Infantile myoclonic encephalopathy (opsoclonus-myoclonus or IME) is a rare clinical syndrome associated with occult neuroblastoma in 20%-50% of all cases. IME is the initial presentation of neuroblastoma in 1%-3% of children. Imaging approaches including chest radiography and abdominal computed tomography (CT) have been proposed to detect neuroblastoma in IME. Metaiodobenzylguanidine (MIBG) is highly effective in the detection of neuroblastoma. These scans can identify both soft-tissue and skeletal lesions anywhere in the body. Our purpose was to attempt to determine the best screening method for detection of occult neuroblastoma in patients with IME. Records of all neuroblastoma patients from 1983 to May 1991 were reviewed. Four cases of IME with neuroblastoma were identified in which imaging studies included an MIBG scan. All four patients had positive MIBG scans (100%) while only two had masses on initial CT (50%). In the three patients initially evaluated by traditional methods, the mean time to diagnosis and the mean number of advanced radiologic studies were 7.5 mo and 7.3 studies respectively. The patient screened with MIBG had only cranial and abdominal CT prior to surgery. Although based on a limited number of patients, results suggest that MIBG may prove to be a useful screening procedure in patients with IME. Traditional imaging modalities can then be directed to evaluate sites of disease identified by MIBG scans.

CREUTZFELDT—JAKOB disease, a transmissible subacute degeneration of the central nervous system, is generally considered a disease of older adults.1 We recently evaluated a 20-year-old man with idiopathic hypopituitarism and insulin-dependent diabetes mellitus in whom Creutzfeldt—Jakob disease developed. Since early childhood he had received cadaveric human growth hormone, as well as insulin, thyroid hormone, and more recently testosterone. Case Report The patient, a 20-year-old man, was referred to the University of California, San Francisco, for evaluation of progressive gait instability. His history was complicated by multiple deficiencies of pituitary hormones from infancy, as well as insulin-dependent diabetes mellitus. Hypopituitarism was suggested . . .

During the last several decades, the number of these rare heterogeneous disorders described as neurocutaneous syndromes has significantly increased. The criteria for inclusion have become more general, although most of the disorders have dysplastic features, many do not have a tendency for tumor formation. Further, not all of these disorders are heritable and some are reported in only one or two families. Nonetheless, there is some merit for the clinician, geneticist, and embryologist to consider these anomalies of embryologic development on some common ground. Knowledge of these syndromes is important to correctly establish the diagnosis and prognosis. In cases of the heritable disorders, genetic counseling is essential. Finally, these disorders are of theoretic importance to all biologists, as the exchange of information will be essential to ultimately unravel the reasons for their cause.

Giant axonal neuropathy (GAN) is a disease characterized by a slowly progressive neuropathy and signs of central involvement, manifested by visual impairment, corticospinal tract dysfunction, ataxia, and dementia. Pathological hallmarks of the disease include axonal swellings packed with neurofilaments in both peripheral and central nervous systems, and accumulations of intermediate filaments in Schwann cells, fibroblasts, melanocytes, endothelial, and Langerhans cells. Rosenthal fibers, sometimes appearing in masses and mimicking Alexander's disease, emerge as a conspicuous characteristic in longstanding GAN.

Sural nerve biopsy was performed on a six-year-old girl with a slowly progressive distal mixed polyneuropathy. The nerve fiber population was reduced, and of those remaining, approximately half were greatly enlarged, measuring up to 35 microns in cross section. Longitudinal sections showed axonal enlargement to be segmental. Ultrastructurally, swollen axonal segments were filled with neurofilaments in closely-packed swirls which appeared to tie on occasion into granular electron-opaque condensations. Both, myelinated and unmyelinated fibers were involved, and some degree of onion-bulb formation was observed. Although masses of neurofilaments are found in peripheral axons in other disorders, none approaches the proportions encountered in this unique case.