Bilateral Sprengel Deformite, Konjenital Tek Taraflı Böbrek Agenezisi, MEFV Geninde M680İ (GC)Heterozigot Mutasyonu Olan Klippel-Feil Sendromlu Yedi Yaşında Bir Kız Olgu
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2017
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info:eu-repo/semantics/openAccess
Özet
KFS, kısa boyun, düşük arka saç çizgisi ve boyun hareketlerini kısıtlayan servikal vertebraların füzyonuyla karakterizedir. Biz bilateral Sprengel deformiteli, konjenital tek taraflı böbrek agenezisi ve MEFV gen mutasyonu olan bir bayan KFS'li vakayı sunduk. Hastanın fizik muayenesi, rutin biyokimyasal, radyolojik değerlendirilmesi yapıldı ve aile öyküsü alındı. İlaveten, kromozomal analiz, MEFV geninin tüm ekzom sekans analizi ve GDF6 geninin sekans analizi yapıldı. Hastada kısa boyun, baş ve boyun hareketleri kısıtlanmış, düşük posterior saç çizgisi, bilateral Sprengel deformitesi, hafif skolyoz ve konjenital tek taraflı renal agenezisi vardı. Ayrıca hastanın parsiyel vertebra füzyonu vardı. Hasta, servikal kifoz, spinal kanalın füziform genişlemesi, servikal spinal kordun artmış kalınlığı, spinal kordun merkezinde yaklaşık 1.5 cm'ye ulaşan kistik genişlemeye ve normal karyotipe sahipti. Vakanın M680I(GC) mutasyonu vardı. Vakanın GDF6 geni analiz sonucu normaldi. Bildiğimiz kadarıyla bu; KFS, bilateral Sprengel deformite, konjenital tek taraflı renal agenezi ve FMF mutasyonunun birlikte olduğu ilk vakadır. KFS'li olgularda nörolojik defisitlerin minör travma sonrası görülmesi nedeniyle hasta, dikkatli olmalı ve ağır egzersizden kaçınmalıdır. Hastanın karaciğerinde ve dalağında kistler ve aile geçmişinde böbrek yetmezliği vardı. Bu nedenle hasta polikistik böbrek rahatsızlığı açısındanda değerlendirilmektedir. Bunlara ilaveten, vaka MEFV geninde mutasyona sahip olduğundan, amiloidozis riski için hasta yaşamı süresince böbrek rahatsızlığı açısından takip edilmelidir.
KFS is characterized by fusion of cervical vertebrae that restricts the range of motion of the neck, short neck and low posterior hairline. We presented at a female KFS case within bilateral Sprengel deformity, congenital unilateral renal agenesis and correlation by MEFV gene mutation. Physical examination, routin biochemical evaluation, radiological evaluation of the case were performed and family history was taken. Additionally, chromosomal analysis, complete exom sequencing analysis of MEFV gene and the sequencing analysis of GDF6 gene were conducted. She had short neck, limitation of the movement of head and neck and a low posterior hairline, bilateral sprengel deformity, mild scoliosis and congenital unilateral renal agenesis. Also, she had partial vertebral body fusion. She had cervical kyphosis, the fusiform enlargement of the spinal canal, increased thickness of the cervical spinal cord, cystic enlargement, which reached about 1.5cm long in central of the spinal cord and normal caryotype. She had M680I(G>C) mutation. The patient analysis result was normal for GDF6 gene. To our knowledge, this is the first reported case together with KFS, bilateral Sprengel deformity, congenital unilateral renal agenesis and FMF mutation. Due to neurological deficits can be seen after minor trauma in cases with KFS, she should be careful and avoid from heavy exercise. She had cysts in her liver and spleen and had renal failure her family history. Thus the case has been evaluated for policystic kidney disorder. Additionally, she had MEFV gene mutation, she should be followed for kidney failure during her life for amyloidosis risk.
KFS is characterized by fusion of cervical vertebrae that restricts the range of motion of the neck, short neck and low posterior hairline. We presented at a female KFS case within bilateral Sprengel deformity, congenital unilateral renal agenesis and correlation by MEFV gene mutation. Physical examination, routin biochemical evaluation, radiological evaluation of the case were performed and family history was taken. Additionally, chromosomal analysis, complete exom sequencing analysis of MEFV gene and the sequencing analysis of GDF6 gene were conducted. She had short neck, limitation of the movement of head and neck and a low posterior hairline, bilateral sprengel deformity, mild scoliosis and congenital unilateral renal agenesis. Also, she had partial vertebral body fusion. She had cervical kyphosis, the fusiform enlargement of the spinal canal, increased thickness of the cervical spinal cord, cystic enlargement, which reached about 1.5cm long in central of the spinal cord and normal caryotype. She had M680I(G>C) mutation. The patient analysis result was normal for GDF6 gene. To our knowledge, this is the first reported case together with KFS, bilateral Sprengel deformity, congenital unilateral renal agenesis and FMF mutation. Due to neurological deficits can be seen after minor trauma in cases with KFS, she should be careful and avoid from heavy exercise. She had cysts in her liver and spleen and had renal failure her family history. Thus the case has been evaluated for policystic kidney disorder. Additionally, she had MEFV gene mutation, she should be followed for kidney failure during her life for amyloidosis risk.
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