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

Roshan Koul1, Amna Al-Futaisi, Anuradha Ganesh

  • 1Department of Child Health, Sultan Qaboos University Hospital, College of Medicine, and Health Science, Muscat, Oman. koul@squ.edu.om

Journal of Child Neurology
|August 11, 2007
PubMed

Insights

Neuronal ceroid lipofuscinosis (NCL) in Oman predominantly affects males, with the CLN2 type being most common. Key symptoms include seizures, neuroregression, and vision loss, highlighting the need for early diagnosis.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Neuronal ceroid lipofuscinosis (NCL) comprises a group of rare, inherited neurodegenerative disorders.
  • Late-infantile NCL (LINCL) presents with progressive neurological decline.
  • Understanding the epidemiological patterns of NCL is crucial for regional healthcare planning.

Purpose of the Study:

  • To investigate the clinical and genetic patterns of NCL in Omani children.
  • To identify the predominant subtypes and demographic characteristics of NCL in the region.
  • To establish the prevalence of specific genetic forms of NCL.

Main Methods:

  • Retrospective analysis of 11 pediatric NCL cases in Oman.
  • Clinical data collection including onset, symptoms, and family history.
  • Genetic analysis to determine NCL subtypes (e.g., CLN2).
  • Neuroimaging and ophthalmological examinations were performed.

Main Results:

  • Eleven children (10 males) with LINCL were identified across 5 families.
  • The CLN2 type (Jansky-Bielschowsky) accounted for 81.8% of cases.
  • Onset typically occurred between 1-4 years, with seizures (primarily myoclonic) and neuroregression in all patients.
  • Brain volume reduction, cerebellar atrophy, and abnormal ophthalmological findings were universal.
  • A significant male predominance (90.1%) was observed.

Conclusions:

  • CLN2 type is the most prevalent form of NCL in Oman.
  • Early-onset seizures and rapid neurodegeneration characterize LINCL in this cohort.
  • The findings underscore a notable male predilection for NCL in this Arab population.
  • Further research into genetic counseling and therapeutic strategies for NCL is warranted.

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