A dominant form of neuronal ceroid-lipofuscinosis. An ultrastructural study of sural nerve and peripheral lymphocytes.
The study of the ultrastructure of the sural nerve and peripheral blood lymphocytes of a boy with late-infantile neuronal ceroid-lipofuscinosis revealed the presence of 'curvilinear bodies' and 'fingerprint profiles'. The elder sister of the patient died at the age of 7 years after progressive mental and motor deterioration. The same kind of cytoplasmic inclusions was found in the lymphocytes of the father of these children, who had had epilepsy since the age of 32. Clinical data and the results of the ultrastructural study suggest that in the same family two different forms of ceroid-lipofuscinosis appear and that the disease is inherited as an autosomal dominant trait. This family seems to suggest the nosological unity of clinically different forms of ceroid-lipofuscinosis.
D002493:Central Nervous System Diseases / Q000235:genetics* / Q000473:pathology; D002566:Ceroid / Q000502:physiology*; D002675:Child, Preschool; D006801:Humans; D008062:Lipofuscin / Q000502:physiology*; D008214:Lymphocytes / Q000648:ultrastructure*; D008297:Male; D008833:Microcirculation; D008854:Microscopy, Electron; D010860:Pigments, Biological / Q000502:physiology*; D013127:Spinal Nerves / Q000648:ultrastructure*; D013497:Sural Nerve / Q000648:ultrastructure*
D002566:Ceroid; D008062:Lipofuscin; D010860:Pigments, Biological