Meningomiyelosel ve Diğer Spina Bidifa Formları ve Rehabilitasyonu
Özet
Spinal disrafizm, omurganın arka nöral elemanlarının orta hat kapanma kusuru olup, en sık görülen açık ve ölümcül olmayan formu meningomiyeloseldir (MMC). Etyolojisinde genetik varyasyonlar ve folik asit eksikliği en önemli risk faktörleri arasında yer alırken, prenatal tanıda alfa-fetoprotein takibi, detaylı ultrasonografi ve MRG etkin olarak kullanılmaktadır. MMC; hidrosefali, Chiari Tip II malformasyonu, gergin omurilik sendromu, siringomiyeli, nörojen mesane ve bağırsak disfonksiyonu gibi çoklu sistemik ve nörolojik komplikasyonlara yol açar. Kas dengesizliklerine bağlı olarak skolyoz, kifoz, kalça subluksasyonları, diz kontraktürleri ve çeşitli ayak deformiteleri gibi ilerleyici ortopedik problemler sıklıkla gelişmektedir. Defektin cerrahi olarak kapatılması doğum sonrası ilk 24-48 saat içinde veya fetal dönemde intrauterin olarak gerçekleştirilir. Doğumdan itibaren başlayan rehabilitasyon süreci; motor seviyenin belirlenmesini, gövde kontrolünü, uygun ortez (AFO, KAFO, RGO) yönetimini, bağımsız mobiliteyi ve duyu kusurlarına bağlı bası yaralarının önlenmesini hedefleyen ömür boyu sürecek multidisipliner bir yaklaşım gerektirir. Gelişen tıp teknolojileri sayesinde yetişkinlik dönemine ulaşan MMC'li hasta popülasyonu artmış; bu durum geç dönem şant arızaları, kronik cilt ülserleri, hipertansiyon, metabolik sendrom ve mental sağlık sorunlarının yönetimi ile pediatrik bakımdan yetişkin bakımına organize bir geçiş sürecinin planlanmasını zorunlu kılmıştır.
Spinal dysraphism represents a complex group of midline closure defects of the vertebral neural elements, with meningomyelocele (MMC) being the most prevalent non-fatal open neural tube defect. Its multifactorial etiology is heavily linked to genetic predispositions and maternal folic acid deficiency, whereas prenatal screening relies on maternal serum alpha-fetoprotein levels, high-resolution ultrasonography, and fetal MRI. MMC precipitates extensive multisystemic sequelae, including hydrocephalus, Chiari Type II malformation, tethered cord syndrome, syringomyelia, neurogenic bladder, and bowel incontinence. Muscular imbalances commonly lead to progressive orthopedic conditions such as scoliosis, hip instability, knee contractures, and rigid foot deformities. Therapeutic intervention initiates with surgical closure performed either intrauterinely or within 24–48 hours postnatally to mitigate infection risks. Lifelong rehabilitation must begin at birth, focusing on neurological evaluation, trunk control, customized orthotic intervention (AFO, KAFO, RGO), mobility optimization, and meticulous pressure ulcer prevention. Due to advancements in neurosurgical and medical care, survival rates into adulthood have substantially risen, necessitating a well-structured transition from pediatric to adult medicine to address complex late-onset complications such as shunt malfunctions, chronic integumentary ulcers, hypertension, metabolic syndrome, and secondary neurogenic pain.
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