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Ataxia - hypogonadism - choroidal dystrophy

Orpha number ORPHA1180
Synonym(s) Boucher-Neuhäuser syndrome
Prevalence Unknown
Inheritance
  • Autosomal recessive
Age of onset Childhood
ICD-10
  • G11.8
OMIM
UMLS -
MeSH -
MedDRA -
SNOMED CT -

Summary

Boucher-Neuhäuser syndrome is a very rare disorder characterized by the triad of spinocerebellar ataxia, chorioretinal dystrophy, hypogonadotrophic hypogonadism and is inherited in an autosomal recessive fashion. Ataxia begins during adolescence or early adulthood, whereas ophthalmological signs usually develop later, up to the sixth decade. Impaired growth hormone (GH) response to growth hormone-releasing factor (GRF), insulin-induced hypoglycemia, and hypocalciuric hypercalcemia have been described. One case has been associated with Complex I mitochondrial respiratory chain deficiency and a 5.5 kb mtDNA single deletion in skeletal muscle.

Expert reviewer(s)

  • Pr Giuseppe DE MICHELE

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