A Case of Mohr-Tranebjærg Syndrome Diagnosed in a Patient with X-Linked Agammaglobulinemia
Sunday, March 6, 2016
South Exhibit Hall H (Convention Center)
Rationale: We report a case of an uncommon contiguous gene syndrome involving deletion of genetic material from chromosome Xq22.1. Methods: Our patient is a 27 year old man with agammaglobulinemia first diagnosed around twelve months of age during a hospital admission for streptococcus pneumoniae bacteremia and acute-onset bilateral flaccid lower extremity paralysis following antecedent varicella infection 4 weeks prior to that admission. Sequelae included spastic lower extremity paraparesis. At two years of age his hearing began to deteriorate, and by five years old severe sensorineural hearing loss was diagnosed. At twenty years of age the patient was diagnosed and treated for a metastatic testicular seminoma. Family history is notable for a maternal uncle with agammaglobulinemia, deafness, developmental delay, neutropenia, spastic quadriparesis, and seizure disorder who died at 15 years of age. Results: Genetic evaluation identified a 111kb loss from chromosome Xq22, resulting in the absence of three genes: BTK, TIMM8A, and TAF7L. These genes are respectively responsible for agammaglobulinemia, Mohr-Tranebjaerg Syndrome of deafness-dystonia-optic atrophy, and spermatogenesis. Conclusions: Mohr-Tranebjærg Syndrome is a rare disorder characterized by hearing loss that develops in infancy and precedes development of dystonia, which may occur in the first through sixth decades. Associated features include progressive cognitive and visual impairment. The syndrome may manifest phenotypic variability. Although hearing loss may be associated with antibody deficiency syndromes, the co-occurrence of X-linked agammaglobulinemia with X-linked hearing impairment should prompt suspicion of a contiguous gene deletion syndrome.