A Rare Case of Ataxia Telangiectasia in Malaysia

Noor Suryani Mohd Ashari,Wan Zuraida Wan Abdul Hamid

doi:10.3329/bjms.v16i1.31151

Noor Suryani Mohd Ashari, Wan Zuraida Wan Abdul Hamid

Open Access

https://doi.org/10.3329/bjms.v16i1.31151

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Abstract

Ataxia telangiectasia is a primary immunodeficiency disease that affects multiple organs systems. Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia. Ataxia telangiectasia is listed as a rare disease by the Office of Rare Diseases [ORD] of the National Institutes of Health [NIH]. Because ataxia telangiectasia is so rare, doctors may not be familiar with the symptoms, or methods of making a diagnosis. Not all children develop in the same manner or at the same rate; it may be some years before ataxia telangiectasia is properly diagnosed. We report a rare case of ataxia telangiectasia in Malaysia who was diagnosed only at the age of 10 years.Bangladesh Journal of Medical Science Vol.16(1) 2017 p.154-156

Highlights

Ataxia telangiectasia is a rare primary immunodeficiency disease that affects multiple organs systems
Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia[2].We report a rare case of ataxia telangiectasia in Malaysia who was diagnosed only at the age of 10 years
There was no history of immunodeficiency or chronic diseases in the family

Summary

Introduction

Introduction Ataxia telangiectasia is a rare primary immunodeficiency disease that affects multiple organs systems. Affected patients typically manifest ataxia, immune function abnormalities, sinopulmonary infections, and telangiectasia[2].We report a rare case of ataxia telangiectasia in Malaysia who was diagnosed only at the age of 10 years. At two years of age, the boy presented to Hospital Universiti Sains Malaysia (HUSM), Malaysia, with motor developmental delay. The patient was referred back to HUSM 6 years later (8 years of age) for letter to special school. The management was referring the patient to the special school as she was having learning difficulty.

Results

Conclusion