Multiple neuroendocrine disorder in Salla disease

Salla disease represents the slowly progressive adult form of the sialic ac id storage diseases, a group of autosomal-recessive neurodegenerative disor ders in which psychomotor development, ataxia, axial hypotonia, and spastic ity in the lower limbs occur. No skeletal dysostosis or organomegaly is pre sent, and life expectancy is normal. Short stature can also be observed. Pr ogressive cerebral and cerebellar atrophy associated with dysmyelination an d corpus callosum hypoplasia have been shown by magnetic resonance imaging studies. We report the first patient with Salla disease in whom combined gr owth hormone and gonadotropin deficiencies; hypothalamic pituitary in origi n, have been demonstrated by neuroendocrine studies. We believe that the mu ltiple neuroendocrine disorder maybe the consequence of the abnormalities o f common neuronal pathways regulating growth hormone and gonadotropin synth esis or secretion related to the brain storage of free sialic acid and/or t o the neurodegenerative process occurring in Salla disease. Therefore, a co mplete endocrinologic evaluation of these patients is both warranted and us eful.