Ataxia Telangiectasia with Giant Suprasellar Arachnoid Cyst - A Case Report and a Brief Review
نویسندگان
1 Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
2 Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
3 Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
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5 Department of Pediatric Neurology, Imman Khomeini Hospital Complex, Valie'asr Hospital, Tehran University of Medical Sciences, Tehran, Iran
6 Department of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran
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doi
10.22037/ijcn.v19i2.45580چکیده
Ataxiatelangiectasia (A-T) is an infrequent genetic neurodegenerative disorder inherited autosomal recessively. It is mainly characterized by early-onset progressive cerebellar ataxia and dilated capillaries in the oculocutaneous regions especially conjunctivae so-called telangiectasia. A-T is a multisystem disorder and requires multi-disciplinary approach to management. Diagnosis is difficult in some cases because presentation is not in the same manner and showing a phenotypic spectrum. In atypical cases serum immunoglobulins and alfa fetoprotein are normal and telangiectasia is absent. We present a 5.5-year-old boy with progressive cerebellar ataxia and history of repeated sino-pulmonary infections that was homozygote for ataxia-telangiectasia mutated gene and had a giant arachnoid cyst in left hemisphere. It is important to keep in mind those cases with ataxia and repeated sino-pulmonary infections may be ataxia telangectasia patients. Genetic study is helpful and confirms the diagnosis by showing ataxia-telangiectasia mutated gene
