Ataxia telangiectasia - A report of a case in Port Harcourt
Background: Ataxia telangiectasia is acomplex multisystemic disorder with immunologic, neurologic, endocrinologic, hepatic and cutaneous abnormalities.It is characterized by progressive neurologicimpairment, cerebellar ataxia, variable immunodeficiency with increased susceptibility to sinopulmonary infections,impaired organ maturation, x-ray hypersensitivity, ocularand cutaneous telangiectasia, and a predisposition to malignancy
Aim: To present a case of ataxia telangiectasia in an 8 year old female.
Case Report: An 8 year old female with 5years history of recurrent cough and fast breathing, 8 years 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 diagnosis was changed to recurrent bronchopneumonia in a child with primary immunodeficiency secondary to ataxia telangiectasia following recurrent cough and fastbreathing, 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 immunised with pneumococcal and influenza vaccines with some clinical response but subsequently died.
Conclusion: Ataxia telangiectasia is a rare multisystemic 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.
Keywords: Ataxia telangiectasia, pulmonary complications, children
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