Esra Şükran ÇAKAR, Eyüp EKİCİ, Nuri DANIŞMAN, Vehap TOPCU, Abdullatif BAKIR

Lumbosacral spina bifida in a case with Pallister-Killian syndrome

Pallister-Killian sendromu (PKS) dokuya özgü tetrazomi 12p ile karakterize nadir bir sendromdur. Klinik olarak fasiyal dismorfizm, mental-motor gerilik, hipotoni ve iç organ anomalileri görülmektedir. Diyafragma hernisi, üst ekstremitelerde rizomelik kısalık ve kardiyak anomaliler en yaygın görülen bulgulardır. Tanı amniyosit, koryon villus, fetal kan veya fibroblast kültüründe yapılan sitogenetik incelemeyle koyulmaktadır. Lenfosit kültüründe yapılan sitogenetik inceleme genellikle normal sonuçlanmaktadır. Burada, ikinci trimester taramasında nöral tüp defekti açısından yüksek risk saptanması nedeniyle 19. gebelik haftasında hastanemize yönlendirilen kadında yapılan fetal ultrasonografi değerlendirmesinde vertebral kolonda düzensizlik, omfalosel ve sol ventrikül hipoplazisi gözlenen bir olgu sunuldu. Koryon villus veya amniyosit hücrelerinde sitogenetik inceleme yapılmamıştı. Gebelik 20. haftada termine edildi. Postmortem fetal değerlendirmede omfalosel ve sakral apendiks bulgularının gözlenmesi PKS tanısını düşündürdü. Fibroblast kültüründe yapılan sitogenetik incelemenin 47,XY,i(12)(p10) olarak sonuçlanması bu tanıyı doğruladı. Lumbosakral spina bifida ilk defa olgumuzda gözlenmiştir. Sakral apendiks nad ir rastlanan bir bulgudur ve az sayida olguda bildirilmiştir. Sitogenetik inceleme PKS tanısında en yaygın kullanılan metottur ve PKS`nin benzer klinik bulgular sergileyebilen Fryns sendromundan ayırımında yardımcıdır.

Lumbosakral spina bifida saptanan Pallister- Killian sendromu olgusu

Pallister-Killian syndrome (PKS) is a rare disorder caused by tissue limited mosaic tetrasomy of 12p. PKS is clinically characterized with facial dysmorphism, mental-motor retardation, hypotonia and internal abnormalities. Most widely seen features include diaphragmatic hernia, rhizomelic upper limbs and cardiac abnormalities. It is diagnosed by means of cytogenetic analysis of amniocytes, chorionic villus, fetal blood lymphocytes or fibroblasts. Cytogenetic analysis of lymph ocytes usually shows up normal result. Here, we report a fetus demonstrating irregular vertebral body alignment, omphalocele and left ventricle hypoplasia detected in fetal ultrasonography eva luation of a woman referred to our hospital at 19-week gestational age because of high risk for neural tube defect in second trimester screening test. Cytogenetic analysis was not performed in chorionic villus or amniocytes. The pregnancy was terminated at 20-week gestational age. PKS was suspected because of the omphalocele and sacral appendage findings in postmortem examin ation. Skin fibroblast culture revealed 47, XY, i (12) (p10) karyotype, confirming the diagnosis. This is the first case of PKS with lumbosacral spina bifida reported. Sacral appendage is a rare finding and reported in few cases. Cytogenetic investigation is the most widely used method to diagnose PKS and is helpful to differentiate PKS from Fryns syndrome that may bear similar clinical findings.

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