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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, Volume: 9 Issue: 2, 167 - 170, 06.07.2017
https://doi.org/10.18521/ktd.300827

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
k
ısa 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.

References

  • 1. Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine J 1997;22(4):396–401.
  • 2. Tracy MR, Dormans JP, Kusumi K. Klippel–Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;2:183–90.
  • 3. Gunderson CH, Greenspan RH, Glaser GH, Lubs HA. The Klippel–Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine 1967;46:491–512.
  • 4. Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol 2013;4:94 – 105. doi: 10.1159/000345329.
  • 5. Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. Am J Med Genet Part A 2015;9999A:1–5. doi: 10.1002/ajmg.a.37263.
  • 6. Konstantopoulos K, Michael S, Kanta A, Pecheux C, Grateau J, Helioti H, Stathakis C. Renal amyloidosis as a first manifestation of Familial Mediterranean Fever. Scand J Rheumatol 2000;29(2):129–130
  • 7. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Ozen S, Topaloglu R, Yilmaz E, Arici M, Bakkaloglu A, Besbas N, Akpolat T, Dinc A, Erken E. Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005;84(1):1-11.
  • 8. Eroz R, Dogan M, Yuce H, Kocabay K, Yuksel E. A Turkish Family with A89T (p. Ala89Thr, c.265G>A) Mutation on The MEFV Gene, Their Clinical Findings and Review of The Literature. F.Ü.Sağ.Bil.Tıp Derg. 2016; 30 (2): 67- 70. http://www.fusabil.org
  • 9. Eroz R, Dogan M, Yuce H, Ozmerdivenli R. A Family From Turkey With 761_764dupCCGC p.Asn256Argfs70,c.761_764dupCCGC MEFV Gene Mutation, Their Clinical Features and Review of The Literature. Konuralp Tıp Dergisi 2016;8(3): 214-217.
  • 10. Patel PR, Lauerman WC. Klippel Maurice. Spine J 1995;20:2157–60.
  • 11. Ben-Chetrıt E and Touıtou I. Familial Mediterranean Fever in the World Arthritis & Rheumatism (Arthritis Care & Research). American College of Rheumatology 2009;61(10):1447–1453. doi: 10.1002/art.24458.

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

Year 2017, Volume: 9 Issue: 2, 167 - 170, 06.07.2017
https://doi.org/10.18521/ktd.300827

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.

References

  • 1. Thomsen MN, Schneider U, Weber M, Johannisson R, Niethard FU. Scoliosis and congenital anomalies associated with Klippel-Feil syndrome types I-III. Spine J 1997;22(4):396–401.
  • 2. Tracy MR, Dormans JP, Kusumi K. Klippel–Feil syndrome: clinical features and current understanding of etiology. Clin Orthop Relat Res 2004;2:183–90.
  • 3. Gunderson CH, Greenspan RH, Glaser GH, Lubs HA. The Klippel–Feil syndrome: genetic and clinical reevaluation of cervical fusion. Medicine 1967;46:491–512.
  • 4. Giampietro PF, Raggio CL, Blank RD, McCarty C, Broeckel U, Pickart MA. Clinical, genetic and environmental factors associated with congenital vertebral malformations. Mol Syndromol 2013;4:94 – 105. doi: 10.1159/000345329.
  • 5. Karaca E, Yuregir OO, Bozdogan ST, Aslan H, Pehlivan D, Jhangiani SN, Akdemir ZC, Gambin T, Bayram Y, Atik MM, Erdin S, Muzny D, Gibbs RA, Lupski JR. Rare variants in the notch signaling pathway describe a novel type of autosomal recessive Klippel–Feil syndrome. Am J Med Genet Part A 2015;9999A:1–5. doi: 10.1002/ajmg.a.37263.
  • 6. Konstantopoulos K, Michael S, Kanta A, Pecheux C, Grateau J, Helioti H, Stathakis C. Renal amyloidosis as a first manifestation of Familial Mediterranean Fever. Scand J Rheumatol 2000;29(2):129–130
  • 7. Tunca M, Akar S, Onen F, Ozdogan H, Kasapcopur O, Yalcinkaya F, Tutar E, Ozen S, Topaloglu R, Yilmaz E, Arici M, Bakkaloglu A, Besbas N, Akpolat T, Dinc A, Erken E. Turkish FMF Study Group. Familial Mediterranean fever (FMF) in Turkey: results of a nationwide multicenter study. Medicine (Baltimore) 2005;84(1):1-11.
  • 8. Eroz R, Dogan M, Yuce H, Kocabay K, Yuksel E. A Turkish Family with A89T (p. Ala89Thr, c.265G>A) Mutation on The MEFV Gene, Their Clinical Findings and Review of The Literature. F.Ü.Sağ.Bil.Tıp Derg. 2016; 30 (2): 67- 70. http://www.fusabil.org
  • 9. Eroz R, Dogan M, Yuce H, Ozmerdivenli R. A Family From Turkey With 761_764dupCCGC p.Asn256Argfs70,c.761_764dupCCGC MEFV Gene Mutation, Their Clinical Features and Review of The Literature. Konuralp Tıp Dergisi 2016;8(3): 214-217.
  • 10. Patel PR, Lauerman WC. Klippel Maurice. Spine J 1995;20:2157–60.
  • 11. Ben-Chetrıt E and Touıtou I. Familial Mediterranean Fever in the World Arthritis & Rheumatism (Arthritis Care & Research). American College of Rheumatology 2009;61(10):1447–1453. doi: 10.1002/art.24458.
There are 11 citations in total.

Details

Primary Language English
Subjects Health Care Administration
Journal Section Case Reports
Authors

Recep Eröz

Mustafa Doğan This is me

Semih Bolu

Hüseyin Yüce

Publication Date July 6, 2017
Acceptance Date June 15, 2017
Published in Issue Year 2017 Volume: 9 Issue: 2

Cite

APA Eröz, R., Doğan, M., Bolu, S., Yüce, H. (2017). 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. Konuralp Medical Journal, 9(2), 167-170. https://doi.org/10.18521/ktd.300827
AMA Eröz R, Doğan M, Bolu S, Yüce H. 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. Konuralp Medical Journal. July 2017;9(2):167-170. doi:10.18521/ktd.300827
Chicago Eröz, Recep, Mustafa Doğan, Semih Bolu, and Hüseyin Yüce. “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”. Konuralp Medical Journal 9, no. 2 (July 2017): 167-70. https://doi.org/10.18521/ktd.300827.
EndNote Eröz R, Doğan M, Bolu S, Yüce H (July 1, 2017) 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. Konuralp Medical Journal 9 2 167–170.
IEEE R. Eröz, M. Doğan, S. Bolu, and H. Yüce, “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”, Konuralp Medical Journal, vol. 9, no. 2, pp. 167–170, 2017, doi: 10.18521/ktd.300827.
ISNAD Eröz, Recep et al. “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”. Konuralp Medical Journal 9/2 (July 2017), 167-170. https://doi.org/10.18521/ktd.300827.
JAMA Eröz R, Doğan M, Bolu S, Yüce H. 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. Konuralp Medical Journal. 2017;9:167–170.
MLA Eröz, Recep et al. “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”. Konuralp Medical Journal, vol. 9, no. 2, 2017, pp. 167-70, doi:10.18521/ktd.300827.
Vancouver Eröz R, Doğan M, Bolu S, Yüce H. 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. Konuralp Medical Journal. 2017;9(2):167-70.