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Spotlight on Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC)

Igor Kozak1,2, Ganeshwaran H Mochida3,4, Doris D M Lin5

  • 1Department of Ophthalmology and Vision Science, University of Arizona, Tucson, AZ, USA.

Eye and Brain
|October 28, 2024
PubMed

Insights

Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare genetic disorder. JAM3 gene mutations cause severe brain hemorrhages and congenital cataracts, with varied symptoms even within families.

Area of Science:

  • Genetics
  • Neurology
  • Ophthalmology

Background:

  • Hemorrhagic Destruction of the Brain, Subependymal Calcification, and Congenital Cataracts (HDBSCC) is a rare genetic syndrome.
  • It is characterized by severe recurrent brain hemorrhages and congenital cataracts.
  • The condition arises from biallelic mutations in the JAM3 gene.

Purpose of the Study:

  • To provide a comprehensive review of reported HDBSCC cases.
  • To describe the genetic, neuroradiologic, and ophthalmic features of HDBSCC.
  • To highlight the diagnostic considerations for this rare syndrome.

Main Methods:

  • Literature review of published cases of HDBSCC.
  • Analysis of clinical presentations, brain imaging findings, and genetic data.
  • Synthesis of information on neuroradiologic and ophthalmic manifestations.

Main Results:

  • HDBSCC presents with severe brain hemorrhages (parenchymal and ventricular) from in utero to infancy.
  • Dense central cataracts are present at birth.
  • Significant intrafamilial variability exists in clinical and imaging phenotypes.

Conclusions:

  • HDBSCC should be considered in the differential diagnosis of infants with congenital cataracts and neurodevelopmental abnormalities.
  • Distinct clinical and imaging findings, alongside genetic testing, aid in diagnosis.
  • Understanding the JAM3 gene's role is crucial for diagnosing and managing HDBSCC.

Keywords:
eyehemorrhagic destruction of the brain, subependymal calcification, and congenital cataractsimagingjunctional adhesion molecule 3 geneneuroradiology

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