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

Year 2017, , 167 - 170, 06.07.2017

Recep Eröz , Mustafa Doğan Semih Bolu , Hüseyin Yüce

https://doi.org/10.18521/ktd.300827

Cited By: 3

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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