Subsequent histologic study of mediastinal and subcutaneous masses established the diagnosis of multicentric infantile myofibromatosis. The patient died at 16 wk of age with tumor nodules in several visceral and parietal structures. [ncbi.nlm.nih.gov]

The proband, aged 38, had slowly progressive extrapyramidal signs with prominent dystonia, starting at about age 19. [ncbi.nlm.nih.gov]

The patient was a 22-year-old female who exhibited dysarthria, gait disturbance, and generalized dystonia with rigidity. Beta-galactosidase activity in leukocytes was absent and sialidase activity in cultured fibroblasts was normal. [ncbi.nlm.nih.gov]

A 21-month-old boy with a family history of parental consanguinity and two siblings having died of a progressive neurological disorder was investigated for a neurometabolic disease because of recent loss of gait and lack of intellectual progress. [ncbi.nlm.nih.gov]

Both patients had a history of behavioral problems marked by frequent temper tantrums. Both had nondiagnostic magnetic resonance imaging of the head and metabolic work-ups. [ncbi.nlm.nih.gov]

This case, showing features of both mitochondrial neurogastrointestinal encephalomyopathy and mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS), indicates that routine intestinal biopsy can detect mitochondrial [ncbi.nlm.nih.gov]

The ultrastructure of rectal biopsy specimens from a 60-year-old woman of unusual familial ataxia with cerebrospinal fluid abnormality was investigated. She had two male siblings similarly affected and a close consanguinity in the family. [ncbi.nlm.nih.gov]

Distorted crypt architecture, crypt atrophy, basal lymphoid aggregates and dense lymphocytic infiltrates each emerged as features with a 76 to 86 per cent probability of predicting idiopathic inflammatory bowel disease, but their discriminant value was [ncbi.nlm.nih.gov]

Abstract Type III GM1-gangliosidosis is a rare hereditary storage disease caused by lack of lysosomal beta-galactosidase and characterized by a slowly progressive course, and extrapyramidal signs, but without prominent skeletal changes or visceromegaly [ncbi.nlm.nih.gov]