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Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia
Pek-Lan Khong1, Barbara C C Lam, Brian H Y Chung
1Department of Diagnostic Radiology, Queen Mary Hospital, University of Hong Kong, 102 Pokfulam Road, Hong Kong, ROC.
AJNR. American Journal of Neuroradiology
|June 19, 2003
Summary
This study details the first reported diffusion-weighted MRI findings in a neonate with nonketotic hyperglycinemia. Restricted diffusion lesions were observed in key brain areas, aiding in understanding this rare metabolic disorder.
Area of Science:
- Neonatal neurology
- Neuroimaging
- Metabolic disorders
Background:
- Nonketotic hyperglycinemia is a rare inherited metabolic disorder.
- It results from glycine cleavage system dysfunction, leading to elevated glycine levels.
- Neurological complications are common in affected neonates.
Observation:
- This study reports diffusion-weighted magnetic resonance imaging (DW-MRI) findings in a 15-day-old neonate diagnosed with nonketotic hyperglycinemia.
- The neonate presented with characteristic clinical signs of the disorder.
Findings:
- DW-MRI revealed bilaterally symmetrical lesions demonstrating restricted diffusion.
- These lesions were predominantly located in the dorsal brain stem, cerebral peduncles, and posterior limbs of the internal capsule.
- The lesions were more conspicuous and extensive on DW-MRI compared to conventional T2-weighted imaging, indicating cytotoxic edema.
Implications:
- These imaging findings are consistent with abnormalities in myelinated tracts, specifically vacuolating myelinopathy.
- DW-MRI can be a valuable tool for early detection and characterization of brain abnormalities in nonketotic hyperglycinemia.
- Understanding these imaging patterns aids in diagnosis and prognosis assessment for neonates with this condition.