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Congenital malformations of the central nervous system: clinical approach

Feriha Hadzagić-Catibusić1, Hajrija Maksić, Sajra Uzicanin

  • 1Paediatric Clinic, University of Sarajevo Clinics Centre, Sarajevo, Bosnia and Herzegovina.

Bosnian Journal of Basic Medical Sciences
|January 8, 2009
PubMed

Insights

Central nervous system (CNS) malformations occurred in 0.61% of pediatric admissions. Neural tube defects were the most common CNS malformation, highlighting the need for improved folic acid and prenatal diagnostics.

Area of Science:

  • Pediatric Neurology
  • Congenital Malformations
  • Public Health

Background:

  • Central nervous system (CNS) malformations are a significant cause of child morbidity and mortality.
  • Understanding the epidemiology of these conditions is crucial for effective public health strategies.

Purpose of the Study:

  • To determine the incidence, types, and clinical features of CNS malformations in children admitted to a tertiary care center.
  • To evaluate the current status of prenatal diagnosis for CNS malformations.

Main Methods:

  • Retrospective analysis of 16,520 pediatric admissions from January 1, 2002, to December 31, 2006.
  • Diagnosis and classification of CNS malformations based on clinical and diagnostic data.
  • Assessment of prenatal diagnosis rates and associated factors.

Main Results:

  • CNS malformations were diagnosed in 100 patients (0.61%), with 127 distinct malformations identified.
  • Neural tube defects were the most frequent (38.6%), followed by hydrocephalus (26.8%) and microcephaly (18.9%).
  • Prenatal diagnosis was achieved in only 13% of cases, with neural tube defects frequently associated with hydrocephalus.

Conclusions:

  • Improved primary prevention through folic acid supplementation is recommended.
  • Enhancing secondary prevention via advanced prenatal ultrasonography and physician training is essential.
  • Current prenatal diagnostic capabilities for CNS malformations in the region are underdeveloped.

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