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A 17-year-old patient had myoclonic epilepsy caused by Lafora's disease. Biopsy showed polysaccharide accumulations within membrane-bound spaces in skeletal muscle cells. Some of the accumulations were morphologically similar to Lafora bodies as they have been seen in the brain. The histochemical reactions of these membrane-bound spaces suggested that they… (More)
OBJECTIVE To examine the effect of carbamazepine and valproate monotherapy on bone mineral density in children. METHODS Axial (second, third, and fourth lumbar vertebrae) and appendicular (distal third of radius) bone mineral density was measured by dual-energy x-ray absorptiometry in 27 healthy children and 26 children with uncomplicated idiopathic… (More)
Polymorphous light eruption (PMLE) is a common acquired disease entity belonging to the idiopathic photodermatoses that is uncommonly considered in the Hispanic population. The pathogenesis of the disease and the mechanism of adaptation in skin (hardening phenomenon) have yet to be elucidated. PMLE is characterized by recurrent abnormal delayed reactions to… (More)
Patients with Batten-Kufs' disease may be divided into three groups by electronmicroscopy of their storage deposits. In the first group, those characterized by curvilinear profiles, there is a strong correlation with a particular clinical syndrome, the late infantile form of the disease. In the second group, characterized by finger-print profiles, there is… (More)
The problem of intracranial aneurysm causing subarachnoid hemorrhage in several members of three different families is illustrated and discussed in this report.
We report a case of primary malignant schwannoma of the trigeminal nerve, and review the 5 previously reported cases. Clinical presentation, along with radiological and pathological features are discussed.
The clinical features of the Chiari Malformation in seven adult patients are presented. It is suggested that the clinical syndromes associated with this malformation, in adults, can be classified as (a) compression of structures at the level of foramen magnum (with or without radiologically demonstrable associated bony anomaly at the cranio-vertebral… (More)
The pedigree of two interrelated families with 10 affected members suffering from malignant supratentorial gliomas is reported. In addition, three other unrelated families with two members each who were treated for different types of brain tumors are described. Genetic implications are discussed.