Late-infantile neuronal ceroid lipofuscinosis (CLN2/Jansky-Bielschowsky Type) in Oman

Roshan Koul, Amna Al-Futaisi, Anuradha Ganesh, Shivayogi Rangnath Bushnarmuth

Research output: Contribution to journalArticle

4 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)555-559
Number of pages5
JournalJournal of Child Neurology
Volume22
Issue number5
DOIs
Publication statusPublished - May 2007

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Keywords

  • Jansky-Bielschowsky
  • Neuronal ceroid lipofuscinosis
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

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