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Early cardiac involvement in an infantile Sandhoff disease case with novel mutations

Hsiu-Fen Lee1, Ching-Shiang Chi2, Chi-Ren Tsai3

  • 1Department of Pediatrics, Taichung Veterans General Hospital, Taichung, Taiwan; School of Medicine, Chung Shan Medical University, Taichung, Taiwan.

Brain & Development
|October 5, 2016
PubMed

Insights

Cardiac involvement can precede neurological symptoms in infantile Sandhoff disease, a rare lysosomal storage disorder. Early cardiac evaluation is crucial for diagnosing this condition in infants.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Infantile Sandhoff disease typically presents with hepatosplenomegaly.
  • Cardiac involvement is an exceptionally rare manifestation.

Observation:

  • A 14-month-old infant presented with early-onset cardiomegaly and mitral regurgitation.
  • Neurological regression occurred after infection, with MRI showing characteristic brain signal changes and fundus examination revealing cherry-red spots.
  • Reduced beta-hexosaminidase B (HEXB) activity and novel HEXB gene mutations were identified.

Findings:

  • The patient exhibited significant cardiac abnormalities, including left atrial and ventricular dilation.
  • Genetic analysis revealed two novel mutations in the HEXB gene.
  • Lysosomal enzymatic assays confirmed a marked reduction in HEXB activity.

Implications:

  • Cardiac manifestations may precede neurological symptoms in infantile Sandhoff disease.
  • Metabolic cardiomyopathies in infants should consider Sandhoff disease in their differential diagnosis.
  • This case highlights the importance of comprehensive evaluation in suspected lysosomal storage disorders.
Abstract

Keywords:
Cardiac manifestationsHEXB gene mutationInfantile Sandhoff diseaseMetabolic cardiomyopathyNeurological features

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