Abstract
Kifoskolyotik tip Ehlers-Danlos sendromu (EDS), tip VI, doğumdan itibaren varolan ciddi muskuler hipotoni, progresif ve ciddi kifoskolyoz, belirgin eklem hipermobilitesi ve luksasyon ve ciddi deri hiperelastikiyeti ile karakterize nadir otozomal resesif bir bağ doku hastalığıdır. Prokolajen-lizin-2-oksoglutarat 5-dioksijenaz 1(PLOD1 veya lizil hidroksilaz 1) gen mutasyonu sonucu bu hastalarda kolajen lizil hidroksilaz enzim eksikliği ile görülmektedir. Normal sağlıklı kontroller ile karşılaştırıldıklarında, idrarda artmış total lizil pridinoline/hidroksi pridinoline oranları yüksektir ve bu durum hastalık için tanı koydurucudur. Bu vakada omurga eğriliği şikayeti ile başvuran ve kisosfolyotik tip Ehlers-Danlos sendromu tanısı alan 7 yaşında kız sunuldu.
Keywords
References
- Gok E, Goksel OS, Alpagut U, Dayioglu E. Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers- Danlos Syndrome. Eur J Vasc Endovasc Surg 2012;44:482-4.
- Steinmann B, Eyre DR, Shao P. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet 1995;57: 1505-8.
- Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med 2010;12:597- 605.
- Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 02 [updated 2013 Jan 24]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
- Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C. Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord 2008;18:210-4.
- Karrer S, Landthaler M, Schmalz G. Ehlers-Danlos type VIII. Review of the literature. Clin Oral Investig 2000;4:66-9.
- Steinmann B, Royce PM, Superti-Furga A. The Ehlers–Danlos syndrome. In: Royce PMB, Steinmann B (eds), Connective Tissue and its Heritable Disorders 2nd ed. New York: Wiley, 2002: 431–523.
- Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab 2000;71: 212-24.
- Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): Report on 23 patients and review of the literature. Am J Med Genet A 2004;124A:28–34.
- Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A 2005;133:158-64.
- AR, et al. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome – an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 2008;82:1290–1305.
- Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, et al. Mutations in FKBP14 cause a variant of Ehlers- Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss. Am J Hum Genet 2012;90:201–16.
Abstract
The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS), type VI, is a rare autosomal recessive connective tissue disorder characterized at birth by severe muscular hypotonia, kyphoscoliosis which is progressive and severe, marked joint hypermobility and luxations and severe skin hyperelasticity. It is characterized by a deficiency of collagen lysyl hydroxylase due to mutations in procollagen-lysine, 2-oxoglutarate 5-dioxygenase 1 (PLOD1 or lysyl hydroxylase 1). The ratio of urinary total LP to HP in patients with EDS VI is high as compared with normal controls, and is diagnostic for this disease. Herein, we describe a 7-year-old female with the kyphoscoliotic type of Ehlers–Danlos syndrome (EDS VI) who was admitted with complaints of curvature of the spine
References
- Gok E, Goksel OS, Alpagut U, Dayioglu E. Spontaneous brachial pseudo-aneurysm in a 12-year-old with kyphoscoliosis-type Ehlers- Danlos Syndrome. Eur J Vasc Endovasc Surg 2012;44:482-4.
- Steinmann B, Eyre DR, Shao P. Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI. Am J Hum Genet 1995;57: 1505-8.
- Malfait F, Wenstrup RJ, De Paepe A. Clinical and genetic aspects of Ehlers-Danlos syndrome, classic type. Genet Med 2010;12:597- 605.
- Yeowell HN, Steinmann B. Ehlers-Danlos Syndrome, Kyphoscoliotic Form. 2000 Feb 02 [updated 2013 Jan 24]. In: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP (eds). GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
- Yiş U, Dirik E, Chambaz C, Steinmann B, Giunta C. Differential diagnosis of muscular hypotonia in infants: The kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI). Neuromuscul Disord 2008;18:210-4.
- Karrer S, Landthaler M, Schmalz G. Ehlers-Danlos type VIII. Review of the literature. Clin Oral Investig 2000;4:66-9.
- Steinmann B, Royce PM, Superti-Furga A. The Ehlers–Danlos syndrome. In: Royce PMB, Steinmann B (eds), Connective Tissue and its Heritable Disorders 2nd ed. New York: Wiley, 2002: 431–523.
- Yeowell HN, Walker LC. Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI. Mol Genet Metab 2000;71: 212-24.
- Al-Hussain H, Zeisberger SM, Huber PR, Giunta C, Steinmann B. Brittle cornea syndrome and its delineation from the kyphoscoliotic type of Ehlers-Danlos syndrome (EDS VI): Report on 23 patients and review of the literature. Am J Med Genet A 2004;124A:28–34.
- Giunta C, Randolph A, Al-Gazali LI, Brunner HG, Kraenzlin ME, Steinmann B. Nevo syndrome is allelic to the kyphoscoliotic type of the Ehlers-Danlos syndrome (EDS VIA). Am J Med Genet A 2005;133:158-64.
- AR, et al. Spondylocheiro dysplastic form of the Ehlers-Danlos syndrome – an autosomal-recessive entity caused by mutations in the zinc transporter gene SLC39A13. Am J Hum Genet 2008;82:1290–1305.
- Baumann M, Giunta C, Krabichler B, Rüschendorf F, Zoppi N, Colombi M, et al. Mutations in FKBP14 cause a variant of Ehlers- Danlos syndrome with progressive kyphoscoliosis, myopathy and hearing loss. Am J Hum Genet 2012;90:201–16.
Details
| Other ID | JA66PY85EZ |
|---|---|
| Journal Section | Case Report |
| Authors | |
| Publication Date | August 1, 2014 |
| Submission Date | August 1, 2014 |
| Published in Issue | Year 2014 Volume: 8 Issue: 2 |
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