Metachromatic leukodystrophy

Case contributed by Dr Fabien Ho

Presentation

Gait abnormality. Obstetric and neonatal history unremarkable.

Patient Data

Age: 2 years
Gender: Female
MRI

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 analyses were performed in another tertiary-care center and confirmed the diagnosis. 

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Case information

rID: 59627
Published: 4th Jul 2018
Last edited: 5th Jul 2018
Inclusion in quiz mode: Included
Institution: CHU de la Reunion

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