Bilateral Sprengel Deformite, Konjenital Tek Taraflı Böbrek Agenezisi, MEFV Geninde M680i(G>C) Heterozigot Mutasyonu Olan Klippel-Feil Sendromlu Yedi Yaşında Bir Kız Olgu

Abstract

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(G>C) 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.

Keywords

• Klippel-Feil Sendromue
• FMF
• Bilateral Sprengel Deformitesi
• Servikal Vertebranın Füzyonu
• GDF6 Geni

A Seven Years Old Girl with Klippel-Feil Syndrome, Bilateral Sprengel Deformity, Congenital Unilateral Renal Agenesis and A Heterozygous Mutation M680I(G>C) in The MEFV Gene

Abstract

Klippel–Feil syndrome (KFS) is characterized by fusion of cervical vertebrae that restricts the range of motion of the neck, short neck and low posterior hairline. The aim of the study is presentation of a female KFS case together with bilateral Sprengel deformity, congenital unilateral renal agenesis and MEFV gene mutation. After the initial admission of the case, physical examination, routin biochemical evaluation, radiological evaluation of the case were performed. Family history of the case was taken. Additionally, chromosomal analaysis, complete exom sequencing analysis of MEFV gene and the sequencing analysis of GDF6 gene were performed. 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 associated with C7-T1 and spinous process fusion at C5-T1 and T3-T5. She had cervical kyphosis, the fusiform enlargement of the spinal canal, increased thickness of the cervical spinal cord, cystic enlargement, which reached about 1.5 cm long in central of the spinal cord. She had normal caryotype (46, XX). According to whole sequencing analysis of MEFV gene, she had M680I(G>C) mutation. Her analaysis 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 Familial Mediterranean Fever (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. In addition to these, she had MEFV gene mutation. So, she should be taken into consideration for kidney failure during her life because of amyloidosis risk.

Keywords

• Klippel-Feil Syndrome
• FMF
• Bilateral Sprengel Deformity
• Fusion Of Cervical Vertebrae

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