Öz
Ataksi-telenjiektazi hastalığı otozomal resesif genetik geçiş gösteren nörodejeneratif bir hastalıktır. Bu hastalığın ana bulgusu ilk yaşlarda ortaya çıkan trunkal ataksidir. Bakış kısıtlılığı şikayeti ile başvuran on bir yaşında erkek hastada dengesiz yürüme ve peltek konuşma tespit edildi. Hastada mental gerilik, dizartrik konuşma, trunkal ataksi, başta titubasyon, ellerde intansiyel tremor, horizantal/vertikal nistagmus, yüzde ve sklerada telenjiektazik damarlar, yukarı laterale bakış dışında diğer alanlarda bakış kısıtlılığı, dismetri, disdiadokinezi, kaba yüz görünümü olduğu belirlendi. Kranial magnetik rezonans görüntülemesinde her iki serebeller hemisferde atrofi tespit edildi. Alfa fetoprotein değeri 38 ng/ml (0.9-7.6) ile yüksekti. Ataksi Telenjiektazi ATM geni mutasyon analizinde 25. ekzonunda bulunan p.Lys1192Lys (c.3576 G>A) değişimini homozigot olarak saptandı. Ataksi, nöromotor retardasyon, telenjektazi ve göz bulgularının olduğu hastalarda Ataksi-telenjiektazi hastalığı ilk akla gelen tanılardan biri olmalıdır.
Anahtar Kelimeler
Kaynakça
- Referans 1 C. Rothblum-Oviatt, J Wright, MA Lefton-Greif, S A McGrath-Morrow, Crawford TO, H M Lederman. Ataxia telangiectasia: a review. Orpha. J. Rare Dis. 2016;159.
- Referans 2 Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair. 2004;3:1187-96.
- Referans 3 M. Swift, D Morrell, E Cromartie, AR Chamberlin, MH Skolnick, DT Bishop. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am. J. Hum. Genet. 1986; 39(5):573–583.
- Referans 4 Lange E, Borresen A, Chen X, Chessa L, Chılunkar S, Concannon P. Localization of an Ataxia- telengiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Human Genet. 1995;57:112-9.
- Referans 5 Larry L, Smith MD, Stephen L. Ataxia-telangiactasia or Louis – Bar syndrome. J Am Acad Dermatol. 1985;12:681-696.
- Referans 6 Jason JM, Gelfand EW. Diagnostic considerations in ataxia– telangiectasia. Arch Dis Child. 1979;54:682-6.
- Referans 7 Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med. 1992;82:169-79.
- Referans 8 Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia–telangiectasia. A.J.N.R. Am. J. Neuroradiol.2014;35 (1), 119–123.
- Referans 9 Farina L, Uggetti C, Ottolini A, et al. Ataxia telangiectasia: MR and CT findings. J Comput Assist Tomogr.1994;18: 724-7.
- Referans 10 F. Suarez, N Mahlaoui, C Canioni D Andriamanga, C Dubois D'Enghien, N Brousse, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J. Clin. Oncol. 2015;33(2): 202–208.
Öz
Ataxia telangiectasia is a neurodegenerative disease exhibiting autosomal recessive genetic transmission. The principal finding of the disease is truncal ataxia emerging in the first years. Gait imbalance and lisp were determined in an 11-year-old boy presenting due to gaze restriction. Mental retardation, dysarthric speech, truncal ataxia, titubation of the head, intention tremor in the hands, horizontal/vertical nystagmus, telangiectasia in the face/sclera, restriction in all gaze fields except for upward lateral, dysmetria, dysdiadochokinesia, and a coarse facial appearance were observed. Cranial magnetic resonance imaging revealed atrophy cerebral hemispheres. Alpha fetoprotein was elevated, at 38 ng/ml (0.9-7.6). Ataxia telangiectasia ATM gene mutation analysis reported a homozygous p.Lys1192Lys (c.3576 G>A) change on the 25th exon. This case report is intended to emphasize that ataxia telangiectasia should be the first condition considered at differential diagnosis in patients with ataxia, neuromotor retardation, telangiectasia, and ocular findings.
Anahtar Kelimeler
Kaynakça
- Referans 1 C. Rothblum-Oviatt, J Wright, MA Lefton-Greif, S A McGrath-Morrow, Crawford TO, H M Lederman. Ataxia telangiectasia: a review. Orpha. J. Rare Dis. 2016;159.
- Referans 2 Chun HH, Gatti RA. Ataxia-telangiectasia, an evolving phenotype. DNA Repair. 2004;3:1187-96.
- Referans 3 M. Swift, D Morrell, E Cromartie, AR Chamberlin, MH Skolnick, DT Bishop. The incidence and gene frequency of ataxia-telangiectasia in the United States. Am. J. Hum. Genet. 1986; 39(5):573–583.
- Referans 4 Lange E, Borresen A, Chen X, Chessa L, Chılunkar S, Concannon P. Localization of an Ataxia- telengiectasia gene to an approximately 500-kb interval on chromosome 11q23.1: linkage analysis of 176 families by an international consortium. Am J Human Genet. 1995;57:112-9.
- Referans 5 Larry L, Smith MD, Stephen L. Ataxia-telangiactasia or Louis – Bar syndrome. J Am Acad Dermatol. 1985;12:681-696.
- Referans 6 Jason JM, Gelfand EW. Diagnostic considerations in ataxia– telangiectasia. Arch Dis Child. 1979;54:682-6.
- Referans 7 Woods CG, Taylor AM. Ataxia telangiectasia in the British Isles: the clinical and laboratory features of 70 affected individuals. Q J Med. 1992;82:169-79.
- Referans 8 Lin DD, Barker PB, Lederman HM, Crawford TO. Cerebral abnormalities in adults with ataxia–telangiectasia. A.J.N.R. Am. J. Neuroradiol.2014;35 (1), 119–123.
- Referans 9 Farina L, Uggetti C, Ottolini A, et al. Ataxia telangiectasia: MR and CT findings. J Comput Assist Tomogr.1994;18: 724-7.
- Referans 10 F. Suarez, N Mahlaoui, C Canioni D Andriamanga, C Dubois D'Enghien, N Brousse, et al. Incidence, presentation, and prognosis of malignancies in ataxia-telangiectasia: a report from the French national registry of primary immune deficiencies. J. Clin. Oncol. 2015;33(2): 202–208.
Ayrıntılar
| Birincil Dil | İngilizce |
|---|---|
| Bölüm | Olgu sunumları |
| Yazarlar | |
| Yayımlanma Tarihi | 30 Nisan 2020 |
| Gönderilme Tarihi | 10 Ağustos 2019 |
| Yayımlandığı Sayı | Yıl 2020 Cilt: 9 Sayı: 1 |
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