Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation
Mehtap Beker-Acay1, Muhsin Elmas2, Resit Koken3
1Department of Radiology, Afyon Kocatepe University, Faculty of Medicine, Afyonkarahisar, Turkey.
Background:
Sandhoff disease is an autosomal recessive disorder caused by β-hexosaminidase deficiency in which the ganglioside GM2 and other glycolipids accumulate intracellularly within lysosomes. This process results in progressive motor neuron manifestations, death from respiratory failure and infections in infantiles.
Case Report:
This report presents a 22-month-old girl with infantile type Sandhoff disease that was hospitalized for generalized seizures and psychomotor retardation. She was diagnosed with a genetically proven novel mutation and by demonstrating it's specific imaging findings.
Conclusions:
Determination of spesific changes in neuroimaging which are initial findings for GM2 gangliosidosis is important from the point of diagnosis and follow-up in infants suspected of having a neurodegenerative disease.
Insights
Sandhoff disease, a neurodegenerative disorder, involves GM2 ganglioside accumulation due to beta-hexosaminidase deficiency. Early neuroimaging findings are crucial for diagnosing and managing this condition in infants.
Area of Science:
- Neurology
- Genetics
- Biochemistry
Background:
- Sandhoff disease is an autosomal recessive disorder caused by beta-hexosaminidase deficiency.
- This deficiency leads to the accumulation of ganglioside GM2 and other glycolipids within lysosomes.
- The disease manifests with progressive motor neuron dysfunction, often resulting in respiratory failure and infections in infants.
Observation:
- A 22-month-old girl with infantile Sandhoff disease presented with generalized seizures and psychomotor retardation.
- Diagnostic evaluation included genetic confirmation of a novel mutation.
- Specific neuroimaging findings associated with the condition were documented.
Findings:
- The case highlights a novel mutation causing Sandhoff disease.
- Characteristic neuroimaging findings were identified in the patient.
- These findings correlate with GM2 gangliosidosis, a lysosomal storage disorder.
Implications:
- Identifying specific neuroimaging changes is vital for early diagnosis of GM2 gangliosidosis.
- Neuroimaging serves as an initial diagnostic tool in infants with suspected neurodegenerative diseases.
- Accurate diagnosis and follow-up are essential for managing Sandhoff disease and similar lysosomal storage disorders.
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