Journal of cancer research and therapeutics, 2017-10, Vol.13 (6), p.1073
2017
Details
- Autor(en) / Beteiligte
- Titel
- Neurofibromatosis type-1 in a patient with ataxia-telangiectasia
- Ist Teil von
- Journal of cancer research and therapeutics, 2017-10, Vol.13 (6), p.1073
- Ort / Verlag
- India: Medknow Publications and Media Pvt. Ltd
- Erscheinungsjahr
- 2017
- Link zum Volltext
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- 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. 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. Acknowledgment I would like to thank Bertan Yilmaz M.D. from Cukurova University, Faculty of Medicine, Department of Medical Biology for his assistance in evaluation of genetic test results.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 0973-1482eISSN: 1998-4138DOI: 10.4103/0973-1482.183212Titel-ID: cdi_proquest_journals_1978578878
- Format
- –
- Schlagworte
- Adolescent, Ataxia, Ataxia Telangiectasia - complications, Ataxia Telangiectasia - diagnosis, Ataxia Telangiectasia - genetics, Care and treatment, Case studies, Consanguinity, Deoxyribonucleic acid, Diagnosis, DNA, Female, Humans, Mutation, Neurofibromatosis, Neurofibromatosis 1 - complications, Neurofibromatosis 1 - diagnosis, Neurofibromatosis 1 - genetics, Patients, Pediatrics, Siblings, Tumors