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Late-Infantile Neuronal Ceroid Lipofuscinosis (CLN2/Jansky-Bielschowsky Type) in Oman

Department of Child Health, Sultan Qaboos University Hospital, College of Medicine, and Health Science, Muscat, Oman,koul{at}squ.edu.om

Amna Al-Futaisi, MD, FRCPC

Department of Child Health, Sultan Qaboos University Hospital, College of Medicine, and Health Science, Muscat, Oman

Anuradha Ganesh, MS, FRCS

Department of Ophthalmology, Sultan Qaboos University Hospital, College of Medicine, and Health Science, Muscat Oman

Shivayogi Rangnath Bushnarmuth, MD, FRCP

Department of Pathology Sultan Qaboos University Hospital, College of Medicine and Health Science, Muscat, Oman

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.

Key Words: neuronal ceroid lipofuscinosis • seizures • Jansky-Bielschowsky

Journal of Child Neurology, Vol. 22, No. 5, 555-559 (2007)
DOI: 10.1177/0883073807302613


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