Objective:We discussed a rare case of spinal muscular atrophy (SMA) type 0, was followed with prenatal diagnosis of intrauterine growth restriction (IUGR), five times of cord around neck detected during cesarean section, in the highlights of the literature.
Case:A pregnant woman who was followed with the diagnosis of IUGR during 32. gestational week. In the 38. gestational week; cord around neck for five times and a real knot were detected in the cesarean section. Difficulty in swallowing and absorbing, also significant respiratory muscle weakness were found at the follow up of the baby. SMA was suspected according to these symphtoms. With the analyse of PCR RFLP (Polymerase chain reaction -restriction fragment length polymrphism) SMN 1 (Telomeric survival motor neuron gene) homozygot exon 7 and 8 deletions were found, SMA type 0 was diagnosed according to these findings.
Conclusion:During the 2. trimester of pregnacy, with a careful ultrasound examination, cord around neck can be succesfully determined. It should be considered that cord around neck risk rate can be increased in the 3. trimester. Hypotonia, severe respiratory muscle weakness involving the infants to be a good antenatal and postnatal history, examination and molecular study will identify the rare cases of SMA. Genetic counseling should be given to the parents.Keywords: Pregnancy, umblical cord around neck, intrauterine growth retardation, spinal muscular atrophy.
Do¤umda boyun çevresinde befl kez kordon dolanmas›: Olgu sunumuAmaç: Prenatal dönemde intrauterin geliflme k›s›tl›l›¤› (IUGK) tan›s› ile takip edilen ve miyad›nda yap›lan sezaryen s›ras›nda boyun çevresinde befl kez kordon dolanmas› saptanan spinal musküler atrofi (SMA) tip 0 olgusu nadir görülmesi sebebiyle, literatür bilgileri ›fl›-¤›nda tart›fl›lm›flt›r.Olgu: 32. gebelik haftas›ndan itibaren ‹UGK tan›s› ile takip edilen hastan›n, 38. gebelik haftas›nda yap›lan sezaryeni esnas›nda boyun çevresinde befl kez kordon dolanmas› ve bir adet gerçek dü¤üm tespit edildi. Bebe¤in izleminde; yutma ve emmede güçlük çekmesi, ayn› zamanda solunum kaslar›nda belirgin güçsüzlük olmas› üzerine SMA'dan flüphelenildi. PCR RFLP (polymerase chain reaction restriction fragment length polymorphism) yöntemi ile yap›lan analizde; SMN 1 (telomerik survival motor nöron geni) homozigot ekzon 7 ve 8 delesyonlar›n›n gösterilmesi üzerine SMA tip 0 tan›s› konuldu. Sonuç: Gebeli¤in 2. trimesterinden itibaren yap›lan dikkatli bir ultrasonografik inceleme ile umbilikal kordonun fetus boynuna dolan-m›fl oldu¤u saptanabilir. 3. trimestere yaklaflan haftalarda bu oran›n artt›¤› ak›lda tutulmal›d›r. Hipotoni ve solunum kaslar›n› da içine alan a¤›r güçsüzlü¤ü olan yenido¤anlarda iyi bir antenatal ve postnatal öykünün al›nmas›, muayene bulgular› ve moleküler çal›flma ile birlikte nadir görülen SMA olgular›n›n tan›nmas›n› ve ailelere gerekli genetik dan›flmanl›¤›n verilmesi olana¤›n› sa¤layacakt›r.Anahtar Sözcükler: Gebelik, boyunda kordon dolanmas›, intrauterin geliflme k›s›tl›l›¤›, spinal musküler atrofi.