Presentation
Gait abnormality. Obstetric and neonatal history unremarkable.
Patient Data
Age: 2 years
Gender: Female
From the case:
Metachromatic leukodystrophy
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Info
No midline defect. No neuronal migration nor gyration anomaly.
Diffuse periventricular and deep white matter disease: leukodystrophy.
Sparing of venules within the abnormal white matter: "tigroid" pattern. No enhancement.
Case Discussion
Age, clinical symptoms and MRI "tigroid" pattern were highly suspicious of metachromatic leukodystrophy.
Metabolic analyzes were performed in another tertiary-care center and confirmed the diagnosis.
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