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Cerebral MR manifestations of Pompe disease in an infant
1Department of Diagnostic Radiology, Tri-Service General Hospital, Taiwan, Republic of China.
AJNR. American Journal of Neuroradiology
|February 1, 1996
Insights
We present cerebral MRI findings in a 5-month-old infant diagnosed with Pompe disease. This study details the central nervous system imaging characteristics associated with this rare genetic disorder.
Area of Science:
- Neurology
- Pediatric Radiology
- Genetic Metabolic Disorders
Background:
- Pompe disease, a lysosomal storage disorder, can affect the central nervous system (CNS).
- CNS involvement in infantile Pompe disease presents unique diagnostic challenges.
Abstract:
We present the cerebral MR findings of a 5-month-old girl with biopsy-proved Pompe disease and discuss the imaging characteristics with known central nervous system disease.