Presentation
Hyperreflexia for MRI brain. No prior significant history.
Patient Data
On T2-weighted and FLAIR images show symmetric confluent areas of high signal intensity in the posterior periventricular white matter extending anteriorly and sparing the subcortical U fibres. The tigroid and leopard skin patterns, which suggest sparing of the perivascular white matter, can be seen in the lesions suggestive of metachromatic leukodystrophy for a biochemical abnormal low level of arylsulfatase correlation in peripheral blood leucocytes and urine.
Case Discussion
White matter diseases, in general, are divided into two categories:
- Dysmyelinating diseases, also known as leukodystrophies, constitute a wide spectrum of cerebral disorders of varying aetiology.
- Demyelinating diseases involve the destruction of intrinsically normal myelin.
Metachromatic leukodystrophy is a dysmyelinating disease, a rare hereditary disorder, involving three different age groups: infantile, juvenile, and adult.
Radiographic findings are characterised by bilateral symmetrical confluent areas of signal change in the periventricular white matter and semioval centres. Our case on T2-weighted and FLAIR images show symmetric confluent areas with high signal intensity in the posterior periventricular white matter extending anteriorly and sparing of the subcortical U fibres. The tigroid and leopard skin patterns of demyelination can be seen in the lesions of metachromatic leukodystrophy. Biochemical abnormal low level of arylsulfatase correlation in peripheral blood leucocytes and urine is simple testes for confirmation.