Infantile Type Sandhoff Disease with Striking Brain MRI Findings and a Novel Mutation.
Pol J Radiol
; 81: 86-9, 2016.
Article
in En
| MEDLINE
| ID: mdl-26985245
ABSTRACT
BACKGROUND:
Sandhoff disease is an autosomal recessive disorder caused by ß-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.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Type of study:
Diagnostic_studies
Language:
En
Journal:
Pol J Radiol
Year:
2016
Document type:
Article
Affiliation country:
Turkey