Boucher-Neuhauser Syndrome Associated with Hypocalciuric Hypercalcemia.

Abstract

A 52-year-old womanwas diagnosed as having cerebellar ataxia, hypogonadotropic hypogonadism and retinochoroidal degeneration, the so-called, "Boucher-Neuhauser" syndrome proposed by Limber et al (Am J Med Genet 33: 409, 1989). In addition, laboratory findings showed the elevation of serum calcium (Ca) levels, low urinary Ca excretion, and exaggerated reabsorption of filtrated Ca (FECa: 0.14 %), suggesting complication ofhypocalciuric hypercalcemia. This is a very rare case of Boucher-Neuhauser syndromeassociated with hypocalciuric hypercalcemia.

Two sibs with chorioretinal dystrophy, hypogonadotrophic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome.

“…The patient was "assumed to be under postmenopausal state for over 10 years", and this lack of oestrogens seemed to play an important role in the pathogenesis.8 Furthermore, one sister of this patient with almost the same clinical history and symptoms had no hypercalcaemia. 8 Besides the observation that the tissues involved are all of neuroectodermal origin, the exact link between the three disorders (chorioretinal degeneration, hypogonadotrophic hypogonadism, and cerebellar ataxia) remains unknown. All the reported cases provide evidence that this triad represents a specific pleiotropic single gene disorder with an autosomal recessive pattern of inheritance.…”