The Turkish Journal of Pediatrics
2009 , Vol 51 , Num 6
Salla disease in Turkish children: severe and conventional type
Departments of 1Pediatrics, and 2Radiology, Ege University Faculty of Medicine, Izmir, Turkey
Sialic acid storage disorder, known as Salla disease, is a rare autosomal
recessive lysosomal disorder produced by a defect of a proton-driven carrier
that is responsible for the efflux of sialic acid from the lysosomal compartment.
We report two patients with Salla disease: a two-year-old girl, presented with
hypotonia, inability to speak and walk, bilateral optic atrophies, defective
myelination, cerebellar atrophy, and thinning of the corpus callosum on
magnetic resonance imaging (MRI), who was classified as intermediate severe
Salla disease; and a four-year-old girl, presented with relatively late-onset, slight
hypotonia, and delayed language and mobility development, and supported
by relatively protected MRI findings, who was classified as conventional
Salla disease. Diagnosis of Salla disease was confirmed by accumulation of
sialic acid in fibroblast culture: 15.1 and 13.2 nmol/mg protein in the first
and second patient, respectively. Optic atrophy observed in the first case
may be an additional feature besides the characteristic manifestations of
Salla disease.
Keywords :
Salla disease, severe type, conventional type, optic atrophy.