Case of the Week
Section Editors: Matylda Machnowska1 and Anvita Pauranik2
1University of Toronto, Toronto, Ontario, Canada
2BC Children's Hospital, University of British Columbia, Vancouver, British Columbia, Canada
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September 24, 2015
Salla Disease
- Salla disease is a rare lysosomal disease characterized by abnormal storage of free sialic acid.
- Clinical Features: The dominant clinical features include psychomotor retardation and slowly progressive developmental delay usually noticeable at 3–6 months of age and peaking in the second or third decades of life. Seizures have been reported.
- Key Diagnostic Features:
- Nonspecific hypomyelination pattern on MRI with diffuse T2 prolongation of the deep white matter
- Variable cortical and deep grey matter signal abnormalities on T1-weighted images
- Thinning of the corpus callosum is always present.
- Brain stem and cerebellar atrophy may be observed, but this is often not the dominant feature.
- DDx:
- Pelizaeus-Merbacher disease and Pelizaeus-Merbacher-like disease
- 18q-deletion syndrome
- Hypomyelination with atrophy of the basal ganglia and cerebellum
- Treatment: Supportive care
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