An Infant With Poor Visual Response

Honey H. Herce, MD; Kimberly G. Yen, MD


July 09, 2014

Case Diagnosis

The presence of bilateral cherry-red spots, failure to thrive, developmental delays, and hypotonia suggests a lysosomal storage disease. Genetic evaluation is critical for diagnosis.

This patient was found to have abnormalities in hexosaminidase B, which corresponds to Sandhoff disease. Hexosaminidase B is the beta subunit of the dimeric enzyme hexosaminidase, which is important for lysosomal degradation of GM2 gangliosides. Abnormalities in hexosaminidase A (the alpha subunit) would result in Tay-Sachs disease. Both diseases have a poor prognosis, with death caused by aspiration or bronchopneumonia between 2-4 years of age.[1]

Clinical Course

The patient underwent full evaluation with neurologic and genetic testing.

He had placement of a gastrostomy tube for feedings and is currently receiving physical and occupational therapy. He continues to have developmental delays and regression, with new development of seizures.


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