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Indian J Med Res 140, August 2014, pp 321-322
Clinical Images
Spontaneous pneumothorax in ataxia telangectasia
Fig. Clinical photograph showing (A) ocular and (B) nail telangiectasia (arrows). Baseline X-ray chest posteroanterior (P/A) view (C)
displayed right epidiaphragmatic and apical hyperlucencies (arrows) suggestive of pneumothorax with subsequent resolution of pneumothorax
following insertion of intercostal tube (D) (arrow).
A 20 yr old male presented to Neurology Outpatient
department, Postgraduate Institute of Medical Education
and Research (PGIMER), in November 2012 with
progressive cerebellar ataxia since the age of eight.
The patient complained about a sudden onset shortness
of breath for the past ve days. Clinical examination
revealed conjunctival and nail telangectasia (Figs.
A and B). Chest roentgenogram showed right sided
pneumothorax (Fig. C) that was managed with high
ow oxygen and intercoastal drain insertion (Fig. D)
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following which the patient had symptomatic relief.
CT of chest (Fig. E) and cranial MRI (Fig. F) revealed
ndings as described. A diagnosis of ataxia telangectesia
was made based on clinical and laboratory ndings
(elevated serum AFP and reduced serum IgA and IgE
levels). The patient had no complaints of dyspnoea,
Fig. Computerized tomograph of the chest (E) revealed presence of pneumothorax (arrow) with no parenchymal changes. Cranial MRI (F)
depicted cerebellar atrophy (white arrow) without cerebral cortical parenchymal changes.
and pulmonary function tests done six months later
were normal.
Sudheer Chakravarthi* & Manoj Kumar Goyal
Department of Neurology, Postgraduate
Institute of Medical Education & Research
Sector-12, Chandigarh 160 012, India
*For correspondence:
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Full-text available
Background Ataxia-telangiectasia is an autosomal recessive, multi-system, and life-shortening disease caused by mutations in the ataxia-telangiectasia mutated gene. Although widely reported, there are no studies that give a comprehensive picture of this intriguing condition. Objectives Understand the natural history of ataxia-telangiectasia (A-T), as reported in scientific literature. Search methods 107 search terms were identified and divided into 17 searches. Each search was performed in PubMed, Ovid SP (MEDLINE) 1946-present, OVID EMBASE 1980 –present, Web of Science core collection, Elsevier Scopus, and Cochrane Library. Selection criteria All human studies that report any aspect of A-T. Data collection and analysis Search results were de-duplicated, data extracted (including author, publication year, country of origin, study design, population, participant characteristics, and clinical features). Quality of case-control and cohort studies was assessed by the Newcastle-Ottawa tool. Findings are reported descriptively and where possible data collated to report median (interquartile range, range) of outcomes of interest. Main results 1314 cases reported 2134 presenting symptoms. The most common presenting symptom was abnormal gait (1160 cases; 188 studies) followed by recurrent infections in classical ataxia-telangiectasia and movement disorders in variant ataxia-telangiectasia. 687 cases reported 752 causes of death among which malignancy was the most frequently reported cause. Median (IQR, range) age of death (n = 294) was 14 years 0 months (10 years 0 months to 23 years 3 months, 1 year 3 months to 76 years 0 months). Conclusions This review demonstrates the multi-system involvement in A-T, confirms that neurological symptoms are the most frequent presenting features in classical A-T but variants have diverse manifestations. We found that most individuals with A-T have life limited to teenage or early adulthood. Predominance of case reports, and case series demonstrate the lack of robust evidence to determine the natural history of A-T. We recommend population-based studies to fill this evidence gap.
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