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Microcephaly, malformation of brain development and intracranial calcification in sibs: pseudo-TORCH or a new

Ghada M H Abdel-Salam1, Maha S Zaki, Sahar N Saleem

  • 1Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, Egypt. ghada.abdelsalam@yahoo.com

American Journal of Medical Genetics. Part A
|October 18, 2008
PubMed

Insights

This study identifies a severe genetic disorder in infants characterized by microcephaly, brain malformations, and intracranial calcification. The condition, likely autosomal recessive, presents unique neuroimaging findings and poor prognosis.

Area of Science:

  • Neurogenetics
  • Developmental Neuroscience
  • Pediatric Neurology

Background:

  • Congenital microcephaly and developmental brain malformations represent significant challenges in pediatric neurology.
  • Accurate diagnosis is crucial for understanding prognosis and genetic counseling.

Observation:

  • Five siblings presented with congenital microcephaly, growth retardation, distinctive facial features, and early-onset generalized tonic-clonic seizures.
  • Neuroimaging revealed cortical band-like calcification, basal ganglia and brain stem calcification, abnormal gyral patterns, white matter loss, dysplastic ventricles, polymicrogyria, corpus callosum hypogenesis, and cerebellar hypoplasia.

Findings:

  • The observed pattern of microcephaly, severe brain malformations, and intracranial calcification is distinct from previously described syndromes.
  • Fetal MRI facilitated in utero diagnosis in one case.
  • The syndrome exhibited a poor prognosis, with most affected infants dying within the first years of life.

Implications:

  • This distinct constellation of findings suggests a novel genetic disorder, likely with autosomal recessive inheritance.
  • The unique neuroimaging signature aids in differentiating this condition from pseudo TORCH syndrome.
  • Further research into the genetic basis is warranted for potential therapeutic strategies and improved diagnostics.

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