Gait abnormality. Obstetric and neonatal history unremarkable.
Loading Stack -
0 images remaining
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.
Age, clinical symptoms and MRI "tigroid" pattern were highly suspicious of metachromatic leukodystrophy.
Metabolic analyses were performed in another tertiary-care center and confirmed the diagnosis.