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Microcephaly associated with Legg-Calvè-Perthes disease in two siblings

Salvatore Savasta1, Martino Ruggieri, Piero Pavone

  • 1Department of Pediatrics, IRCCS San Matteo Hospital, University of Pavia, Pavia, Italy.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|January 7, 2012
PubMed

Insights

This study documents a second family with microcephaly and Legg-Calvè-Perthes disease (LCPD), revealing complex brain malformations in affected siblings. The findings highlight a rare genetic link between these conditions.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Familial co-occurrence of microcephaly and Legg-Calvè-Perthes disease (LCPD) is exceptionally rare, with only one prior report.
  • Investigating familial cases is crucial for understanding the genetic basis and phenotypic spectrum of combined disorders.

Observation:

  • A second family with two siblings presenting with primary microcephaly and LCPD was identified.
  • Clinical evaluation included neurological assessments, seizures, and mild-to-moderate intellectual disability.
  • Radiological assessment involved X-ray, MRI, revealing distinct brain malformations in both siblings.

Findings:

  • The male sibling exhibited skull asymmetry, frontal lobe developmental issues, and partial agenesis of the corpus callosum.
  • The female sibling presented with complex brain malformations including cortical thickening, colpocephaly, and cerebellar hypoplasia.
  • Both siblings displayed primary microcephaly, with the brother also diagnosed with ADHD and the sister with minor eye anomalies.

Implications:

  • This report provides the first documented family with LCPD and microcephaly showing complex brain anomalies via MRI.
  • The findings suggest a potential shared genetic etiology or a complex interplay between microcephaly and LCPD.
  • Further research into similar cases is encouraged to elucidate the underlying mechanisms and genetic factors involved.

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