title: Sensorineural deafness in siblings with adenosine deaminase deficiency.
abstract: Two siblings with adenosine deaminase deficiency were successfully treated with allogeneic bone marrow transplantation without conditioning. Although the patients were free from infections after immunologic reconstitution, both showed sensorineural deafness at 1 year of age. Because there were no structural abnormalities in the inner and middle ears, no evidence of prenatal infections of rubella, cytomegalovirus or toxoplasma, and no postnatal infection of mumps in the siblings, sensorineural deafness might be one of the neurologic problems associated with adenosine deaminase deficiency.
authors.affiliation: Division of Child Neurology, Institute of Neurological Sciences, Tottori University, School of Medicine, Japan.
authors.forename: C
authors.initials: C
authors.lastname: Tanaka
authors.forename: T
authors.initials: T
authors.lastname: Hara
authors.forename: I
authors.initials: I
authors.lastname: Suzaki
authors.forename: Y
authors.initials: Y
authors.lastname: Maegaki
authors.forename: K
authors.initials: K
authors.lastname: Takeshita
mesh_terms: D000243:Adenosine Deaminase / Q000172:deficiency*; D016026:Bone Marrow Transplantation; D002675:Child, Preschool; D003638:Deafness / Q000175:diagnosis* / Q000201:enzymology* / Q000601:surgery; D016057:Evoked Potentials, Auditory, Brain Stem; D005192:Family Health; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009679:Nuclear Family
chemical_list: D000243:Adenosine Deaminase