In:
Journal of Child Neurology, SAGE Publications, Vol. 16, No. 10 ( 2001-10), p. 775-777
Abstract:
Salla disease represents the slowly progressive adult form of the sialic acid storage diseases, a group of autosomal-recessive neurodegenerative disorders in which psychomotor development, ataxia, axial hypotonia, and spasticity in the lower limbs occur. No skeletal dysostosis or organomegaly is present, and life expectancy is normal. Short stature can also be observed. Progressive cerebral and cerebellar atrophy associated with dysmyelination and corpus callosum hypoplasia have been shown by magnetic resonance imaging studies. We report the first patient with Salla disease in whom combined growth hormone and gonadotropin deficiencies, hypothalamic pituitary in origin, have been demonstrated by neuroendocrine studies. We believe that the multiple neuroendocrine disorder may be the consequence of the abnormalities of common neuronal pathways regulating growth hormone and gonadotropin synthesis or secretion related to the brain storage of free sialic acid and/or to the neurodegenerative process occurring in Salla disease. Therefore, a complete endocrinologic evaluation of these patients is both warranted and useful. (J Child Neurol 2001;16:775-777).
Type of Medium:
Online Resource
ISSN:
0883-0738
,
1708-8283
DOI:
10.1177/088307380101601015
Language:
English
Publisher:
SAGE Publications
Publication Date:
2001
detail.hit.zdb_id:
2068710-2
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