Myelodysplasia

Elda Grace G. Anota, MD Physical Medicine and Rehabilitation Cebu City

Myelodysplasia

a term that denotes variable degrees of a spinal cord malformation spina bifida term used by Nicolas Tulp in 1652 describe a group of defects with a common feature of separation of the posterior elements of the vertebral column

Myelodysplasia

Two sources of disability

Primary organic deficits caused by and related to the extent of birth defects Secondary complications that evolve progressively during the childhood development and increase the functional limitations and disability of the individual

Problems noted causing poor quality of life mostly the sequelae of inadequate prevention

Spina Bifida Syndrome

consisting of multiple structural anomalies as an expression of the abnormal embryonic development of the neural tube and its surrounding structures

Spina Bifida Syndrome

Pathogenesis

neural tube fails to close around the 28th day of embryonic development or it opens later due to focal necrosis (thus, initiating the process of malformation)

Spina Bifida Syndrome

Etiology

documented familial predilection suggest that genetic factors interacting with multiple unknown environmental agents leading to the occurrence of neural tube defects in human embryo associated with abnormality in Vitamin B9 (Folate or Folic acid) production, transport, and metabolism

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 first affected child recurrence rate 10% after two affected siblings use of Valproic acid during pregnancy 1-2% risk

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

Clinical Manifestations

structures surrounding the neural tube may be malformed vertebrae, ribs, cranial vault vertebral and rib anomalies early development of severe kyphotic and scoliotic deformities urinary tract anomalies e.g. solitary kidney or malformed ureters neurogenic bladder dysfunction

Clinical Manifestations

pigmentation and tuft of hair, or dermal sinus signal the presence of underlying spina bifida occulta

Clinical Manifestations

Deformities of the lower limbs club feet, congenital hip flexion and knee extension contractures, hip dislocation due to denervation Intrauterine hydrocephalus

Clinical Manifestations

paraplegia or quadriplegia with motor and sensory impairment mental retardation specific type of cognitive impairment and defective language function

characteristic: excessive inappropriate chatter and poor linguistic content

Clinical Manifestations

Acquired secondary disabilities

progressive development of musculoskeletal complications renal damage due to neurogenic bladder social problems due to neurogenic bladder and bowel

Prognosis

important factor: severity of symptoms and extent of defect at birth handling during birth

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 elevated AFP and acetylcholinesterase in the amniotic fluid and ultrasound terminate or caesarean section

definitive:

options after detection:

Spina Bifida Syndrome

Prevention

incidence of spina bifida can be decreased by up to 70% when the mother takes daily folic acid supplements prior to conception genetic counseling

Spina Bifida Syndrome

Management

surgery to correct the defect intrauterine surgery - for spina bifida has also been performed, and the safety and efficacy of this procedure are currently being investigated Rehabilitation medicine improvement, prevention, accommodating