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Imerslund syndrome with dolichocephaly.

M Ben-Ami1, E Katzuni, A Koren

  • 1Department of Pediatrics B, Central Emek Hospital, Afula, Israel.

Pediatric Hematology and Oncology
|January 1, 1990
PubMed
Summary

Imerslund-Gräsbeck syndrome, a rare genetic disorder causing vitamin B12 malabsorption and anemia, was identified in an Arabic family. This study reports the novel co-occurrence of this syndrome with dolichocephaly in affected male children.

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Area of Science:

  • Genetics
  • Pediatrics
  • Hematology

Background:

  • Imerslund-Gräsbeck syndrome is a rare autosomal recessive disorder characterized by selective vitamin B12 malabsorption leading to megaloblastic anemia and proteinuria.
  • This condition arises from defects in the vitamin B12 absorption pathway, specifically involving the cubilin (CUBN) and amnionless (AMN) genes.

Observation:

  • A consanguineous Arabic Muslim family presented with three children exhibiting inherited selective vitamin B12 malabsorption with proteinuria.
  • All affected male children displayed dolichocephaly (an elongated skull shape) alongside congenital megaloblastic anemia and proteinuria.

Findings:

  • The clinical and laboratory findings in these children are consistent with Imerslund-Gräsbeck syndrome.
  • This is the first reported instance of Imerslund-Gräsbeck syndrome coexisting with dolichocephaly within a single family.

Implications:

  • This case expands the known clinical spectrum of Imerslund-Gräsbeck syndrome.
  • Further research may elucidate potential genetic links or shared pathogenic mechanisms between Imerslund-Gräsbeck syndrome and dolichocephaly.

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