Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
Publication/Presentation Date
1-1-2016
Abstract
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.
Volume
81
First Page
86
Last Page
89
ISSN
1733-134X
Published In/Presented At
Beker-Acay, M., Elmas, M., Koken, R., Unlu, E., & Bukulmez, A. (2016). Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation. Polish journal of radiology, 81, 86–89. https://doi.org/10.12659/PJR.895911
Disciplines
Diagnosis | Medicine and Health Sciences | Other Analytical, Diagnostic and Therapeutic Techniques and Equipment | Radiology
PubMedID
26985245
Department(s)
Department of Radiology and Diagnostic Medical Imaging
Document Type
Article