title: Juvenile neuronal ceroid lipofuscinosis.
abstract: A case of juvenile neuronal ceroid lipofuscinosis (JNCL) diagnosed on the basis of clinical features, electrophysiologic studies and skin electron microscopy is reported. JNCL was suspected on the basis of characteristic symptoms including progressive loss of vision, seizures, mental retardation and motor disabilities. Diagnosis was confirmed by neurophysiological and biopsy studies. The disease is caused by 23 different mutations in a gene recently isolated on chromosome 16 p11.2-12.1. Although universally fatal, characterisation of mutations can help in prenatal diagnosis in future pregnancies.
authors.affiliation: Department of Pediatrics, All India Institute of Medical Sciences, New Delhi.
authors.forename: S
authors.initials: S
authors.lastname: Gulati
authors.forename: R
authors.initials: R
authors.lastname: Maheshwari
authors.forename: M
authors.initials: M
authors.lastname: Kabra
authors.forename: I C
authors.initials: IC
authors.lastname: Verma
authors.forename: V
authors.initials: V
authors.lastname: Kalra
mesh_terms: D000293:Adolescent; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D004568:Electrodiagnosis; D006801:Humans; D008297:Male; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis* / Q000235:genetics; D011296:Prenatal Diagnosis; D011379:Prognosis; D012867:Skin / Q000648:ultrastructure; D013545:Sweat Glands / Q000648:ultrastructure