mf2 - spina bifida

7/30/2019 MF2 - Spina Bifida

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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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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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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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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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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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pigmentationand tuft of hair,or dermal sinus signal thepresence ofunderlying spina

bifida occulta


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Deformities of the lower limbs club feet,congenital hip flexion and knee extensioncontractures, hip dislocation due todenervation

Intrauterine hydrocephalus


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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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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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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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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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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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mf2 - spina bifida

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