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Case Reports
. 2022 Aug 25;16(1):317.
doi: 10.1186/s13256-022-03550-0.

Infantile Sandhoff disease with ventricular septal defect: a case report

Jamal Khaled Sahyouni  1 , Luma Bassam Mahmoud Odeh  1 , Fahad Mulla  1 , Sana Junaid  1 , Subhranshu Sekhar Kar  2 , Naheel Mohammad Jumah Al Boot Almarri  3   4
Affiliations
Case Reports

Infantile Sandhoff disease with ventricular septal defect: a case report

Jamal Khaled Sahyouni et al. J Med Case Rep. .

Abstract

Background: Infantile Sandhoff disease is a rare inherited disorder that progressively destroys nerve cells in the brain and spinal cord, and is classified under lysosomal storage disorder. It is an autosomal recessive disorder of sphingolipid metabolism that results from deficiency of the lysosomal enzymes β-hexosaminidase A and B. The resultant accumulation of GM2 ganglioside within both gray matter nuclei and myelin sheaths of the white matter results in eventual severe neuronal dysfunction and neurodegeneration.

Case presentation: We evaluated a 3.5-year-old Comorian girl from the United Arab Emirates who presented with repeated chest infections with heart failure due to ventricular septal defect, neuroregression, recurrent seizures, and cherry-red spots over macula. She had macrocephaly, axial hypotonia, hyperacusis, and gastroesophageal reflux. Organomegaly was absent. Brain magnetic resonance imaging, metabolic tests, and genetic mutations confirmed the diagnosis. Despite multidisciplinary therapy, the girl succumbed to her illness.

Conclusion: Though early cardiac involvement can be seen with novel mutations, it is extremely rare to find association of ventricular septal defect in infantile Sandhoff disease. Neuroregression typically starts around 6 months of age. We report this case because of the unusual association of a congenital heart disease with underlying infantile Sandhoff disease and symptomatic heart failure in the first month of life with eventual fatal outcome.

Keywords: Cherry-red spots; Hexosaminidase; Hypotonia; Infantile Sandhoff disease; Neuroregression; Ventricular septal defect.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Chest X-ray findings
Fig. 2
Fig. 2
Two-dimensional echocardiography with color Doppler showing ventricular septal defect
Fig. 3
Fig. 3
Computerized tomography scan of brain showing mild symmetric hyperintensity in thalamic area
Fig. 4
Fig. 4
Magnetic resonance imaging of brain revealing extensive high signal within the supratentorial white matter involving subcortical and deep white matter structures and thinned-out corpus callosum
Fig. 5
Fig. 5
Magnetic resonance spectroscopy showing no peak N-acetyl aspartate or high lactate or creatinine level
Fig. 6
Fig. 6
Case timeline
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