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YÜRÜME BOZUKLUĞU İLE GELEN BİR ÇOCUKTA GECİKMİŞ SPİNAL MUSKULER ATROFİ TİP IIIA TANISI

DELAYED DIAGNOSIS OF SPINAL MUSCULAR ATROPHYTYPE IIIA IN A CHILD PRESENTING WITH ABNORMALWALKING

Journal Name:

  • İstanbul Tıp Fakültesi Dergisi

Publication Year:

  • 2009

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Abstract (2. Language): 
Out-toeing is one of the most common gait disturbances in children that cause parents to seek medical advice from their doctor. Spinal muscular atrophy (SMA) type III usually presents with an abnormal gait like waddling. The key to an accurate diagnosis of SMA type III is a careful history including subtle motor milestones. We report a 10 year- old-girl with SMA type IIIa presenting with abnormal gait. Past medical history revealed that the patient had been admitted to the department of orthopedic surgery for out-toeing and delayed walking at the age of 6. She had been diagnosed as flat foot and treated with modified shoes for 4 years. On admission, she had waddling gait, Gowers sign and fasciculation in her tongue. The creatine kinase was 462 U/L (N: 5-130 U/L). The electromyogram showed signs of anterior horn cell disease. She had had deletion of exon 7 of SMN gene. Any information about delayed walking obtained from the medical history of a patient with out-toeing related flat foot should alert the physician to diagnose a neuromuscular disease like SMA type IIIa.
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Abstract (Original Language): 
Çocuklarda d›fla basarak yürüme, ailelerin doktora baflvurmas›na neden olan en yayg›n yürüme bozukluklar›ndan biridir. Spinal muskuler atrofi (SMA) tip III de, genellikle yalpalayarak yürüme fleklinde ortaya ç›kar. ‹nce motor geliflim basamaklar›n› içeren ayr›nt›l› öykü, SMA tip III tan›s›nda anahtar rol oynamaktad›r. Bu makalede anormal yürüme yak›nmas› ile baflvuran SMA tip III tan›s› alan 10 yafl›nda bir k›z olguyu sunduk. Olgunun özgeçmifli sorguland›¤› nda, 6 yafl›nda ortopedi poliklini¤ine d›fla basarak yürüme ve yürümede gecikme yak›nmalar› ile baflvurdu¤ u ve düztabanl›k tan›s› ile 4 y›l süresince modifiye ayakkab› ile tedavi edildi¤i ö¤renildi. Klini¤imize baflvurusunda olgunun fizik bak›s›nda, yalpalayarak yürüme, Gowers iflareti ve dilinde fasikulasyonlar mevcuttu. Laboratuvar parametrelerinden kreatin kinaz 462 U/L (N: 5-130 U/L ) olarak saptand›. Elektromiyogram incelemesinde, ön boynuz hücre hastal›¤› ile uyumlu bulgular tespit edildi. SMN geni 7. eksonunda delesyon saptand›. Yürümede gecikme ve düztabanl›¤a ba¤l› d›fla basarak yürüme yak›nmas›yla baflvuran olgularda SMA tip III gibi nöromuskuler hastal›klar ak›lda tutulmal›d›r.
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  • 3
102-104
  • English

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