Hacer Akturk1, Murat Sutcu2, Ayper Somer2, Sanem Piskin2, Manolya Acar2, Meral Ozmen3, Umut Altinoglu4, Burak Tatli3, Nuran Salman2. 1. Department of Pediatric Infectious Diseases and Clinical Immunology, Istanbul Medical Faculty, Istanbul University, Tophanelioglu Street, Guzelyapi Buildings, A blok, D:12, Uskudar, Istanbul, 34662, Turkey. hacergunakturk@gmail.com. 2. Department of Pediatric Infectious Diseases and Clinical Immunology, Istanbul Medical Faculty, Istanbul University, Tophanelioglu Street, Guzelyapi Buildings, A blok, D:12, Uskudar, Istanbul, 34662, Turkey. 3. Department of Pediatric Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey. 4. Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.
Abstract
BACKGROUND: Ataxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients. METHODS: Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively. RESULTS: Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated. The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.61±4.11 months, respectively. Neurological abnormalities were progressive truncal ataxia, nystagmus, dysarthria, oculomotor apraxia and choreoathetosis. Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years. Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years. Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients. Abnormal immunological parameters were determined in 51/91 patients: immunoglobulin (Ig)A deficiency (n=38), lymphopenia (n=30), IgG (n=15) and IgG2 (n=11) deficiency. Occurrence of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029 and P=0.023, respectively). Malignancy developed in 5 patients, being mostly lymphoreticular in origin and resulted in death of 4 patients. CONCLUSIONS: AT is a long lasting disease with multisystem involvement necessitating multidisciplinary follow up, as described in our cohort. Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.
BACKGROUND:Ataxia telangiectasia (AT) is a genetically based multisystemic disorder. We aimed to make a comprehensive evaluation of multisystem involvement in AT by describing clinical features and outcome of 91 patients. METHODS: Medical records of the patients who were diagnosed and followed by a multidisciplinary approach during a 27-year period (1988-2015) were reviewed retrospectively. RESULTS: Forty six female and 45 male patients with a mean follow-up period of 39.13±4.28 months were evaluated. The mean age at the time of symptom onset and diagnosis were 15.4±1.09 months and 73.61±4.11 months, respectively. Neurological abnormalities were progressive truncal ataxia, nystagmus, dysarthria, oculomotor apraxia and choreoathetosis. Thirty one patients (34.1%) became dependent on wheelchair at a mean age of 12.1±2.8 years. Eleven patients (12.1%) became bedridden by a mean age of 14.7±1.8 years. Cranial magnetic resonance imaging revealed pathological findings in 47/66 patients. Abnormal immunological parameters were determined in 51/91 patients: immunoglobulin (Ig)A deficiency (n=38), lymphopenia (n=30), IgG (n=15) and IgG2 (n=11) deficiency. Occurrence of recurrent sinopulmonary infections (n=45) and bronchiectasis (n=22) were found to be more common in patients with impaired immunological parameters (P=0.029 and P=0.023, respectively). Malignancy developed in 5 patients, being mostly lymphoreticular in origin and resulted in death of 4 patients. CONCLUSIONS: AT is a long lasting disease with multisystem involvement necessitating multidisciplinary follow up, as described in our cohort. Early diagnosis of malignancy and supportive treatments regarding pulmonary and neurological health may prolong survival and increase the quality of life.
Authors: M A Lefton-Greif; T O Crawford; J A Winkelstein; G M Loughlin; C B Koerner; M Zahurak; H M Lederman Journal: J Pediatr Date: 2000-02 Impact factor: 4.406
Authors: Sandra Voss; Julia Pietzner; Franziska Hoche; Alexander Malcolm R Taylor; James I Last; Ralf Schubert; Stefan Zielen Journal: Growth Factors Date: 2014-06 Impact factor: 2.511
Authors: Maureen A Lefton-Greif; Thomas O Crawford; Sharon McGrath-Morrow; Kathryn A Carson; Howard M Lederman Journal: Orphanet J Rare Dis Date: 2011-05-15 Impact factor: 4.123
Authors: E R Staples; E M McDermott; A Reiman; P J Byrd; S Ritchie; A M R Taylor; E G Davies Journal: Clin Exp Immunol Date: 2008-05-26 Impact factor: 4.330
Authors: Peng Huang; Lu Zhang; Li Tang; Yi Ren; Hong Peng; Jie Xiong; Lingjuan Liu; Jie Xu; Yangyang Xiao; Jian Li; Dingan Mao; Liqun Liu Journal: Front Pediatr Date: 2022-05-02 Impact factor: 3.418
Authors: H Donath; S Woelke; R Schubert; M Kieslich; M Theis; G Auburger; R P Duecker; S Zielen Journal: Cerebellum Date: 2021-04-24 Impact factor: 3.847