title: Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky type) in Oman.
abstract: This study was conducted to see the pattern of neuronal ceroid lipofuscinosis in Oman. Eleven children (10 male) with late-infantile neuronal ceroid lipofuscinosis were seen in 5 families. Most of the patients, 9 of 11 (81.8%), were CLN2 type (late-infantile neuronal ceroid lipofuscinosis or Jansky-Bielschowsky), and 2 patients were the atypical type. Five children were seen in 1 extended family. All children had onset with seizures except in 1 family. The majority had onset between ages 1 to 4 years. Nine and of the 11 children had onset with myoclonic seizures. Neuroregression and microcephaly were noted in all. All children had brain volume reduction and typical cerebellar atrophy. Ophthalmological examination was abnormal in all. Clinical features, histological findings, and genetic study reveal that CLN2 type is the most common form of neuronal ceroid lipofuscinosis. There is male predominance of 90.1% in this part of the Arab world.
authors: Department of Child Health, Sultan Qaboos University Hospital, College of Medicine, and Health Science, Muscat, Oman. koul@squ.edu.om
authors: Roshan
authors: R
authors: Koul
authors: Amna
authors: A
authors: Al-Futaisi
authors: Anuradha
authors: A
authors: Ganesh
authors: Shivayogi
authors: S
authors: Rangnath Bushnarmuth
mesh_terms: D000626:Aminopeptidases; D001921:Brain / Q000473:pathology / Q000648:ultrastructure; D002675:Child, Preschool; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; D010450:Endopeptidases / Q000235:genetics*; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods; D009472:Neuronal Ceroid-Lipofuscinoses / Q000453:epidemiology* / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D009850:Oman / Q000453:epidemiology; D057057:Serine Proteases; D014057:Tomography, X-Ray Computed / Q000379:methods; D000091346:Tripeptidyl-Peptidase 1
chemical_list: D000091346:Tripeptidyl-Peptidase 1; D010450:Endopeptidases; D057057:Serine Proteases; D000626:Aminopeptidases; D004152:Dipeptidyl-Peptidases and Tripeptidyl-Peptidases; C000717267:TPP1 protein, human