607 X- Linked Agammaglobulinemia and Moebius Syndrome, First Case Reported

Abstract

BackgroundTo know the association between X-linked Agammaglobulinemia and Moebius Syndrome. The X-linked Agammaglobulinemia or Bruton disease, is characterized by the absence of B cells and decreased serum immunoglobulin. The defective gen codes a tyrosincinasa protein: Btk. Moebius Syndrome is a congenital facial palsy with impairment of ocular abduction, by a craniofacial dysmorphism and limb-abnormalities.MethodsReview Medical Records in a patient with Diagnosis of Bruton Disease and Moebius Syndrome and review of cases in the literature. Case: Male patient, 15 years of age, a first borne from a normally evolved pregnancy, and no consanguinity data. There were some craniofacial dysmorphic features observed; severe lagofthalmus, lack of palpable lymph nodes and tonsils, difficulty swallowing, facial palsy, syndactyly, talipes equinovarus. Diagnosis is established as Moebius Syndrome by the department of genetics. Relatives have presented similar problems: 2 aunts and 2 uncles related to his mother had died prior to the first year of life with no specified cause. Almost since he became 3 years of age, has shown symptoms of rhinosinusitis, pneumonia, osteomyelitis in right knee caused by several pathogens as S. aureus and H. Influenzae, lack of weight and length, and multiple stays at the hospital. Serum IgG was 37.3 mg/dL, IgA < 23 mg/dL, IgM < 17.9 mg/dL, IgE < 14.2 IU/mL. The total lymphocytes (cells/Microliter) were 3203; T lymphocytes 80%, CD8 44%, CD4 34%, ratio CD4/CD8 0.78, CD56 8%, CD19 0 %, CD20 2%, CD22 2%. Treatment begins with intravenous gammaglobulin in replacement dosage.ResultsAccording to review the literature and data base, Mendelian Inheritance in Man, from the Johns Hopkins University, there is not known association between Bruton Disease and Moebius Syndrome. However, we consider important to report the coexistence of these diseases in one single patient. The karyotype should be studies in order to determine in a more objective way the probable link between both.ConclusionsSince there are not previous reports of the association between X-linked Agammaglobulinemia and Moebius Syndrome this might set the precedent for a better knowledge and its implications to the future.