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Multiple Neuroendocrine Disorder in Salla Disease

Department of Pediatrics University of Siena

Rosario Berardi, MD

Department of Pediatrics University of Siena

Maria Angela Farnetani, MD

Department of Pediatrics University of Siena

Maria Margollicci, PhD

Department of Pediatrics University of Siena

Maria Grazia Mancini, MD

Department of Clinical Genetics Erasmus University Rotterdam, The Netherlands

Guido Morgese, MD

Department of Pediatrics University of Siena Siena University

Paolo Balestri, MD

Department of Pediatrics University of Siena Siena University

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).

Journal of Child Neurology, Vol. 16, No. 10, 775-777 (2001)
DOI: 10.1177/088307380101601015


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