Lumbosacral spina bifida in a case with Pallister-Killian syndrome

SUMMARY 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 lymphocytes usually shows up normal result. Here, we report a fetus demonstrating irregular vertebral body alignment, omphalocele and left ventricle hypoplasia detected in fetal ultrasonography evaluation 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 examination. 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. Keywords: Pallister-Killian syndrome, left ventricular hypoplasia, omphalocele, irregularly aligned vertebral bodies, lumbosacral spina bifida, sacral appendage OZET Pallister-Killian sendromu (PKS) dokuya ozgu tetrazomi 12p ile karakterize nadir bir sendromdur. Klinik olarak fasiyal dismorfizm, mental-motor gerilik, hipotoni ve ic organ anomalileri gorulmektedir. Diyafragma hernisi, ust ekstremitelerde rizomelik kisalik ve kardiyak anomaliler en yaygin gorulen bulgulardir. Tani amniyosit, koryon villus, fetal kan veya fibroblast kulturunde yapilan sitogenetik incelemeyle koyulmaktadir. Lenfosit kulturunde yapilan sitogenetik inceleme genellikle normal sonuclanmaktadir. Burada, ikinci trimester taramasinda noral tup defekti acisindan yuksek risk saptanmasi nedeniyle 19. gebelik haftasinda hastanemize yonlendirilen kadinda yapilan fetal ultrasonografi degerlendirmesinde vertebral kolonda duzensizlik, omfalosel ve sol ventrikul hipoplazisi gozlenen bir olgu sunuldu. Koryon villus veya amniyosit hucrelerinde sitogenetik inceleme yapilmamisti. Gebelik 20. haftada termine edildi. Postmortem fetal degerlendirmede omfalosel ve sakral apendiks bulgularinin gozlenmesi PKS tanisini dusundurdu. Fibroblast kulturunde yapilan sitogenetik incelemenin 47,XY,i(12)(p10) olarak sonuclanmasi bu taniyi dogruladi. Lumbosakral spina bifida ilk defa olgumuzda gozlenmistir. Sakral apendiks nadir rastlanan bir bulgudur ve az sayida olguda bildirilmistir. Sitogenetik inceleme PKS tanisinda en yaygin kullanilan metottur ve PKS`nin benzer klinik bulgular sergileyebilen Fryns sendromundan ayiriminda yardimcidir.  Anahtar sozcukler: Pallister-Killian sendromu, sol ventrikul hipoplazisi, omfalosel, duzensiz vertebral korpus dizilimi, lumbosakral spina bifida, sakral apendiks.