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Myelodysplasia
Elda Grace G. Anota, MD
Physical Medicine and RehabilitationCebu City
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Myelodysplasia
a term that denotes variabledegrees of a spinal cordmalformation
spina bifida term used by NicolasTulp in 1652
describe a group of defects with a
common feature of separation ofthe posterior elements of thevertebral column
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Myelodysplasia
Two sources of disability
Primary organic deficits caused by andrelated to the extent of birth defects
Secondary complications that evolveprogressively during the childhooddevelopment and increase the functionallimitations and disability of the individual
Problems noted causing poor qualityof life mostly the sequelae ofinadequate prevention
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Spina Bifida Syndrome
consisting of multiple structuralanomalies as an expression of theabnormal embryonic developmentof the neural tube and itssurrounding structures
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Spina Bifida Syndrome
Pathogenesis
neural tube fails to close around the28th day of embryonic development orit opens later due to focal necrosis(thus, initiating the process ofmalformation)
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Spina Bifida Syndrome
Etiology
documented familial predilection
suggest that genetic factors interactingwith multiple unknown environmentalagents leading to the occurrence ofneural tube defects in human embryo
associated with abnormality in VitaminB9 (Folate or Folic acid) production,transport, and metabolism
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Spina Bifida Syndrome
Incidence
USA 0.5/1000 live births
increased rate females, midspring
conceptions, low socioeconomic class recurrence rate among siblings with an
estimated 5% higher risk after the firstaffected child
recurrence rate 10% after two affectedsiblings
use of Valproic acid during pregnancy 1-2% risk
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Spina Bifida Syndrome
three categories:
spina bifida occulta
spina bifida cystica with meningocele spina bifida cystica with
myelomeningocele
most common location of the
malformations: lumbar and sacral areas
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Clinical Manifestations
structures surrounding the neural tube maybe malformed vertebrae, ribs, cranialvault
vertebral and rib anomalies earlydevelopment of severe kyphotic andscoliotic deformities
urinary tract anomalies e.g. solitarykidney or malformed ureters neurogenicbladder dysfunction
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Clinical Manifestations
pigmentationand tuft of hair,or dermal sinus signal thepresence ofunderlying spina
bifida occulta
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Clinical Manifestations
Deformities of the lower limbs club feet,congenital hip flexion and knee extensioncontractures, hip dislocation due todenervation
Intrauterine hydrocephalus
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Clinical Manifestations
paraplegia or quadriplegia withmotor and sensory impairment
mental retardation specific type of cognitive
impairment and defective languagefunction
characteristic: excessive inappropriatechatter and poor linguistic content
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Clinical Manifestations
Acquired secondary disabilities
progressive development ofmusculoskeletal complications
renal damage due to neurogenicbladder
social problems due to neurogenicbladder and bowel
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Prognosis
important factor: severity ofsymptoms and extent of defect atbirth
handling during birth
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Spina Bifida Syndrome
Prevention
Monitoring and prenatal detection
elevated -fetoprotein (AFP) in the amniotic
fluid determination of-fetoprotein in the maternal
serum reliable test
increased at 16-18 weeks of pregnancy
definitive:
elevated AFP and acetylcholinesterase in theamniotic fluid and ultrasound
options after detection:
terminate or caesarean section
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Spina Bifida Syndrome
Prevention
incidence of spina bifida can bedecreased by up to 70% when the
mother takes daily folic acid supplementsprior to conception
genetic counseling
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Spina Bifida Syndrome
Management
surgery to correct the defect
intrauterine surgery - for spina bifidahas also been performed, and thesafety and efficacy of this procedureare currently being investigated
Rehabilitation medicine improvement,prevention, accommodating
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