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Sjogren-Larrson syndrome
Case Detail
| Anatomy: Brain |
 Joseph Junewick, MD FACR |
| Diagnostic Category: Metabolic |
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| Created: over 3 years ago |
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| Updated: over 2 years ago |
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| Tags:
PEDS
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| Modality/Study Types:
MR
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Activities:  PDF  ImageJA |
History
Child with ichthyosis, developmental delay and spasticity.
Case Images
Diagnosis
Sjogren-Larrson syndrome (SLS)
Findings
Confluent periventricular dysmyelination with posterior sparing, hypointense on T1 and hyperintense on T2 and T2-FLAIR, without significant volume loss.
Discussion
SLS is a rare autosomal recessive neurocutaneous disorder related to accumulation of fatty alcohols (fatty aldehyde dehydrogenase deficiency). Severe neurocognitive deficiency and motor delay are manifest by 1-2 years of age but not progressive after puberty. Other clinical manifestations include cutaneous inflammation with pruritis and ichthyosis, dental enamel hypoplasia, short stature, scoliosis, macular spots and ocular inflammation. MRI initially demonstrates delayed myelination followed by demyelination and mild atrophy. MR spectroscopy shows narrow peaks at 0.9 and 1.3 ppm.
Reference
Zalewska A and Schwarz RA. Sjogren-Larrson Syndrome. eMedicine 2006.