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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

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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.
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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REFERENCES

References: 

1. Brahe C, Servidei S, Zappata S, Ricci E, Tonali P, Neri G.
Genetic homogeneity between childhood-onset and adultonset
autosomal recessive spinal muscular atrophy. Lancet
1995; 346:741-742.
2. Fenichel GM. Clinical Pediatric Neurology: A sign and
symptoms approach. WB Saunders, Philadelphia, 4th ed.,
2001; pp 45-57.
3. Haliloglu G, Chattopadhyay A, Skorodosis L, Manzur A,
Mercuri E, Talim B, Akcoren Z, Renda Y, Muntoni Y, Topaloglu
H. Spinal muscular atrophy with progressive myoclonic
epilepsy: report of new cases and review of the literature.
Neuropediatrics 2002; 33: 314-319.
4. Muqit MMK, Moss J, Sewry C, Lane RJM. Phenotypic variability
in siblings with type III spinal muscular atrophy. J
Neurol Neurosurg Psychiatry 2004;75: 1762-1764.
5. Read L, Galasko CSB. Delay in diagnosing duchenne muscular
dystrophy in orthopedic clinics. J Bone Joint Surg
1986; 68: 481-482.
6. Rudnik-Schöneborn S, Lutzenrath S, Borkowska J, Karwanska
A, Petrusewicz-Hausmanova I, Zerres K. Analysis
of creatine kinase activity in 504 patients with proximal spinal
muscular atrophy types I-III from the point of view of
progression and severity. Eur Neurol 1998; 39: 154-162.
7. Rudnik-Schöneborn S, Petrusewicz-Hausmanova I, Borkowska
J, Zerres K. The predictive value of achieved motor
milestones assessed in 441 patients with infantile spinal
muscular atrophy types II and III. Eur Neurol 2001; 45: 174-
181.
8. Sarnat HB. Spinal muscular atrophies. In: Behrman RE, Kliegman
RE, Jenson HB (eds.). Textbook of Pediatrics. WB
Saunders, Philadelphia, 17th ed., 2004; pp 2075.
9. Sass P, Hassan G. Lower extremity abnormalities in children.
Am Fam Physician 2003; 68: 461-468.
10. Savas S, Gokgoza N, Kayserili H, Ozkinay F, Yuksel-Apak
M, Kirdar B. Screening of deletions in SMN, NAIP and
BTF2p44 genes in Turkish spinal muscular atrophy patients.
Hum Hered 2000; 50: 162-165.
11. Thompson HG. Evaluation of the child. In: Behrman RE,
Kliegman RE, Jenson HB (eds.). Textbook of Pediatrics. WB
Saunders, Philadelphia, 17th ed., 2004; pp 2251.

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