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Salla disease ‐ rare or underdiagnosed?
Author(s) -
Robinson Richard O.,
Fensom Anthony H.,
Lake Brian D.
Publication year - 1997
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.1997.tb07403.x
Subject(s) - medicine , disease , rare disease , dermatology , pediatrics , pathology , surgery
Salla disease is described in two English children. Eighty‐seven of the 89 cases so far reported come from Finland. It may be genuinely rare outside Finland or possibly underdiagnosed. Although a lysosomal disorder, it lacks many of their more characteristic features. Deterioration, for example, in the paediatric age range is rare. The clinical features are, however, consistent and specific. Definitive diagnosis is achieved by demonstrating increased amounts of free sialic acid in cultured skin fibroblasts. If the colorimetric method in widespread use is employed for this, a false negative result may be obtained. High‐pressure liquid chromatography is sufficiently sensitive. It is possible therefore that Salla disease is under‐reported, both from lack of clinical awareness and from lack of appropriate laboratory confirmation.