Metachromatic leukodystrophy

Case contributed by Safwat Mohammad Almoghazy , 28 Dec 2021
Diagnosis almost certain
Changed by Yusra Sheikh, 24 Feb 2022

Updates to Case Attributes

Body was changed:

White matter diseases, in general, are divided into two categories:

Metachromatic leukodystrophy is a dysmyelinating disease, a rare hereditary disorder, involving three different age groups: infantile, juvenile, and adult. 

Radiographic findings are characterizedcharacterised by bilateral symmetrical confluent areas of signal change in the periventricular white matter and semioval centerscentres. 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 fibersfibres. 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 leukocytesleucocytes and urine is simple testes for confirmation.

  • -<a href="/articles/dysmyelinating-disorders">Dysmyelinating diseases</a>, also known as leukodystrophies, constitute a wide spectrum of cerebral disorders of varying etiology.</li>
  • +<a href="/articles/dysmyelinating-disorders">Dysmyelinating diseases</a>, also known as leukodystrophies, constitute a wide spectrum of cerebral disorders of varying aetiology.</li>
  • -</ul><p><a href="/articles/metachromatic-leukodystrophy">Metachromatic leukodystrophy</a> is a dysmyelinating disease, a rare hereditary disorder, involving three different age groups: infantile, juvenile, and adult. </p><p>Radiographic findings are characterized by bilateral symmetrical confluent areas of signal change in the periventricular white matter and semioval centers. 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 fibers. The <a href="/articles/leopard-skin-sign-white-matter">tigroid</a> and <a href="/articles/leopard-skin-sign-white-matter">leopard skin</a> patterns of demyelination can be seen in the lesions of <a href="/articles/metachromatic-leukodystrophy">metachromatic leukodystrophy</a>.  Biochemical abnormal low level of arylsulfatase correlation in peripheral blood leukocytes and urine is simple testes for confirmation.</p>
  • +</ul><p><a href="/articles/metachromatic-leukodystrophy">Metachromatic leukodystrophy</a> is a dysmyelinating disease, a rare hereditary disorder, involving three different age groups: infantile, juvenile, and adult. </p><p>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 <a href="/articles/leopard-skin-sign-white-matter">tigroid</a> and <a href="/articles/leopard-skin-sign-white-matter">leopard skin</a> patterns of demyelination can be seen in the lesions of <a href="/articles/metachromatic-leukodystrophy">metachromatic leukodystrophy</a>.  Biochemical abnormal low level of arylsulfatase correlation in peripheral blood leucocytes and urine is simple testes for confirmation.</p>
Presentation was changed:
A child was delivered at full-term by normal vaginal delivery and came with hyperreflexiaHyperreflexia for MRI brain. No prior significant history.

Systems changed:

  • Paediatrics

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