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Year : 2017  |  Volume : 13  |  Issue : 6  |  Page : 1073-1074

Neurofibromatosis type-1 in a patient with ataxia-telangiectasia

Department of Pediatric Oncology and Pediatric Bone Marrow Transplantation Unit, Faculty of Medicine, Cukurova University, Adana, Turkey

Date of Web Publication13-Dec-2017

Correspondence Address:
Prof. Serhan Kupeli
Department of Pediatric Oncology and Pediatric Bone Marrow Transplantation Unit, Faculty of Medicine, Cukurova University, Adana
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0973-1482.183212

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How to cite this article:
Kupeli S. Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. J Can Res Ther 2017;13:1073-4

How to cite this URL:
Kupeli S. Neurofibromatosis type-1 in a patient with ataxia-telangiectasia. J Can Res Ther [serial online] 2017 [cited 2020 Jul 13];13:1073-4. Available from: http://www.cancerjournal.net/text.asp?2017/13/6/1073/183212


Neurofibromatosis type 1 (NF1) is an autosomal dominant inherited multisystem disorder. Diagnosis of NF1 is based on the presence of at least two of seven clinical criteria described by the National Institutes of Health.[1],[2] Although association of cafe au lait macules and ataxia-telangiectasia (AT) has been reported in a few series, there is no reported case of NF1 associated with AT.[3],[4]

A 17-year-old female with a history of AT presented with complaints of cough and fever. AT had been diagnosed at the age of 5 years and there was second-degree consanguinity between the parents. The patient was the 12th child of the family. Three siblings of her with AT died at the ages of 15 and 14. On physical examination, there were scleral telangiectasias, multiple cafe au lait macules on skin, three neurofibromas on the skin of the back, spastic lower extremities, left tibial pseudarthrosis, oculomotor apraxia, slurred speech, and bilateral extensor plantar response. Chest X-ray showed pneumonic consolidation in right lower lobe of the lung. She was hospitalized and cefotaxime and clarithromycin were started empirically. On the 3rd day of hospitalization, her fever was under control. There were no Lisch nodules in ophthalmologic examination. Magnetic resonance imaging of the brain and orbita showed no hyperintense lesions or optic gliomas. Informed consent was taken from her parents for genetic testing. DNA was extracted from peripheral blood sample and analyzed using next-generation sequencing by MiSeqSystem (Illumina). No mutation was determined in NF1 gene examination. ATM gene examination, however, revealed c. 8515_8529del (15 bp deleted) and c8596_8622del (27 bp deleted). The patient was discharged after 10 days of antibacterial treatment.

AT is an autosomal recessive multisystem disorder caused by mutation in the ataxia-telangiectasia gene (ATM). It was not difficult to diagnose the patient since her three siblings were affected with AT and she had difficulty in walking at 5 years of age and scleral telangiectasias on physical examination.

It is well known that there is no phenotype-genotype correlation and there is an increased risk of developing a variety of benign and malignant tumors in NF1 patients. Greenberger et al. have reported existence of cafe au lait macules in 84% of the patients with AT in their 32 patients' series.[3] Café au lait spots in our case were located in whole body, especially in extremities and trunk. More than ten macules were over 15 mm in diameter and many others <15 mm. They were hyperpigmented, dark brown in color with smooth borders different from those having ragged edges and varying pigmentation in AT patients. In the present case, DNA was extracted and analyzed although it is well known that DNA-based techniques are not as efficient as RNA-based ones in NF1 mutation detection. No other diagnostic manifestations of NF1 have been reported so far in AT patients. Besides cafe au lait macules, neurofibromas and left tibial pseudarthrosis were sufficient to make the diagnosis of NF1 in our patient.

It was surprising for us to find out hallmarks of these two neurocutaneous syndromes in the same patient. Interestingly, the patient survived longer than her three siblings with AT. Whether NF1 provides a survival advantage in AT as it does in various neoplasms needs to be proved by additional evidence.[5] The identified mutation was a novel mutation according to the Human Gene Mutation Database. The underlying mechanism is unclear and this observation must be supported by other investigators. Herein, the first case of pediatric NF1 associated with AT was reported. NF1 must be kept in mind for pediatric AT patients who present with findings of NF1.


I would like to thank Bertan Yılmaz M.D. from Cukurova University, Faculty of Medicine, Department of Medical Biology for his assistance in evaluation of genetic test results.

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Conflicts of interest

There are no conflicts of interest.

 > References Top

Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol 1988;45:575-8.  Back to cited text no. 1
DeBella K, Szudek J, Friedman JM. Use of the national institutes of health criteria for diagnosis of neurofibromatosis 1 in children. Pediatrics 2000;105(3 Pt 1):608-14.  Back to cited text no. 2
Greenberger S, Berkun Y, Ben-Zeev B, Levi YB, Barziliai A, Nissenkorn A. Dermatologic manifestations of ataxia-telangiectasia syndrome. J Am Acad Dermatol 2013;68:932-6.  Back to cited text no. 3
Cohen LE, Tanner DJ, Schaefer HG, Levis WR. Common and uncommon cutaneous findings in patients with ataxia-telangiectasia. J Am Acad Dermatol 1984;10:431-8.  Back to cited text no. 4
Patil S, Chamberlain RS. Neoplasms associated with germline and somatic NF1 gene mutations. Oncologist 2012;17:101-16.  Back to cited text no. 5


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