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Infantile Sandhoff's disease with peripheral neuropathy
Anuj Jain1, Ashok Kohli, Deepak Sachan
1Department of Pediatric Neurology, Post Graduate Institute of Medical Education and Research, Dr. Ram Manohar Lohia Hospital, New Delhi, India. anujjain22@rediffmail.com
Pediatric Neurology
|May 18, 2010
Summary
Sandhoff's disease, a rare metabolic disorder, causes severe neurodegeneration due to beta-hexosaminidase deficiency. This case highlights peripheral neuropathy in an infant, a less common presentation of this sphingolipidosis.
Area of Science:
- Biochemistry
- Genetics
- Neurology
Background:
- Sandhoff's disease is an autosomal-recessive sphingolipidosis caused by deficient beta-hexosaminidase A and B activity.
- This deficiency leads to GM2 ganglioside accumulation, primarily affecting grey and white matter, resulting in severe neurodegeneration.
Observation:
- A 14-month-old boy presented with seizures and profound neurodegeneration consistent with Sandhoff's disease.
- Neuroimaging and enzyme assays confirmed the diagnosis.
- Nerve conduction studies revealed peripheral neuropathy, affecting median, ulnar, and peroneal nerves.
Findings:
- The patient exhibited classic Sandhoff's disease symptoms alongside significant peripheral nervous system involvement.
- This presentation suggests a broader spectrum of Sandhoff's disease than typically observed in infantile cases.
Implications:
- This case expands the understanding of Sandhoff's disease clinical variability.
- Highlights the importance of considering peripheral neuropathy in the diagnostic workup of infantile neurodegenerative disorders.
- Further research into genotype-phenotype correlations in Sandhoff's disease is warranted.
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