Ataxia Telangiectasia - A Report of a case in Port Harcourt
Ataxia telangiectasia is acomplex multi- systemic disorder with immunologic, neurologic, endocrinologic, hepatic and cutaneous ahnormalities.lt is characterized by progressive neurologicimpairment, cerebellar ataxia, variable immunodeficiency with increased susceptibility to sino- pulmonary infections, impaired organ maturation, x-ray hypersensitivity, ocularand cutaneous telangiectasia and a predisposition to malignancy. The aim of this study is to present a case of ataxia telangiectasia in an 8year old female.
An 8year old female with 5years history of recurrent cough and fast breathing, 3years history of poor weight gain. She achieved normal early developmental milestones. She is the second child of adoptive parents and was adopted at 2weeks of age. Her biological mother was said to have died immediately after delivery. Her adoptive parents were of high socioeconomic class. The detail of child's family history was not known to the adoptive parents. An initial diagnosis of upper respiratory tract infection to rule out pulmonary tuberculosis was made. Subsequently the diagnosis was changed to recurrent bronchopneumonia in a child with primary immunodeficiency secondary to ataxia telangiectasia following recurrent cough and fast breathing, appearance of ocular telangiectasia, onset of ataxia and result of investigations 4 years after initial presentation. She received several antibiotics in the course of the illness and also received anti tuberculous drugs. She also had human immunoglobulin therapy and was immunized with pneumococcal and influenza vaccines with some clinical response but subsequently died.
Ataxia telangiectasia is a rare multi- systemic disorder with high morbidity and mortality in children. Delay in diagnosis and pulmonary complications contribute to a higher morbidity and mortality. There needs to be greater awareness of this disorder and its complications because early management with monitoring of lung function may improve outcome.
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