Sanfilippo disease, type A with some features of ceroid lipofuscinosis.
Light microscopic, histochemical and electron-microscopic studies were made on the brain of a case (No. 1) with Sanfilippo disease, type A. In this case pigment preparations of the isocortex have been demonstrated. Ultrastructural investigations of the skin biopsies (his two male siblings) were also studied (cases 2, 3). Our three siblings of MPS III A, have demonstrated ceroid lipofuscin storage in the brain (case No. 1) and skin biopsies (cases No. 2 and 3) in addition to histological features of MPS. The biochemical studies (enzymatic identification) were made in the cultures of fibroblasts. Also, urine quantitative studies for MPS and N-sulfonate to hexosamino ratio were performed.
D000328:Adult; D002540:Cerebral Cortex / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D008062:Lipofuscin / Q000378:metabolism; D008854:Microscopy, Electron; D009083:Mucopolysaccharidoses / Q000473:pathology*; D009084:Mucopolysaccharidosis III / Q000378:metabolism / Q000473:pathology*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000378:metabolism / Q000473:pathology; D010375:Pedigree; D010860:Pigments, Biological / Q000378:metabolism*; D012867:Skin / Q000473:pathology*
D008062:Lipofuscin; D010860:Pigments, Biological