A rare case of ataxia telangiectasia in Malaysia

Ataxia-telangiectasia is a rare multisystem neurodegenerative genetic disorder due to mutation of ATM gene. The disease is characterized by progressive neurologic impairment, cerebellar ataxia, variable immunodeficiency with susceptibility to sinopulmonary infections, impaired organ maturation, ocular and cutaneous telangiectasia and a predisposition to malignancy. We report a rare case of ataxia telangieectasia who was diagnosed only at the age of 14.  The patient presented to Hospital UNiversiti Sains Malaysia (HUSM), Malaysia, 12 years ago with motor developmental delay at the age of 2 years.  Diagnosis made at that time was dyskinetic cerebral palsy secondary to ? kernicterus.  Patient was then referred for rehabilitation and occupational therapy.  However, patient defaulted followed up on and off after that. Eight years later during followed up at the paediateric clinic, a doctor noted that the patient not only having learning difficulty but also recurrent chest infection for the past 2 years.  There was also presence of unsteady gait, telangiectasia at the conjunctivae, nystagmus, multiple healed infected skin lesion, generalized crepitations in both lungs and positive cerebellar sign.  Serum IgGAM was 8.8/5.63/2.09 g/L.  Based on the patient complaint and physical findings, the final the diagnosis of ataxia telangiectasia was made.