Congenital Flashcards
Neural Tube defects
• Abnormal closure of neural tube
Embryology
• Occurs early - conception to Day 18 - formation of germ layers
• Day 19- 28 - neural tube folds
• Failur to close by D28 = NTD
RFs
• Folate deficiency
• Folic acid antagonists - valproic acid, CBZ, MTX
Open
• Cleft in vertebral column - defect in skin
• Exposed meninges and spinal cord
• Elevated AFP
Closed
• Skin intact - tuft of hari/dimple/birthmark
• Normal AFP
Prevention
• 0.5mg folic acid 1 month pre, 3 months post
• High risk - 5mg daily
Ix
AFP
USS 20/40
Closed Spinal dysraphism (main one Spina bifida)
Key 3 • Unexposed neural tissues --> skin overlying intact - Hydrocephalus - Neuropathic bladder -
Classification
• Anomalies of notochord development –> eg sacral meningocele
• Abnormalities of primary neurulation –> spina bifida occulta
• Anomalies of causal cell mass and secondary neurulation –> sacral agenesis
Clin Pres
• Cutaneous - sinus, pit, dimple
• Neurological - abnormalities in legs, tethered cord syndrome
• Urological - neurogenic bladder dysfunction
• Musculoskeletal - scoliosis, kyphosis, lordosis
Systems and Mx
Neurological
• Hydrocephalus - shunt
• Tethered cord - bladder/bowel, foot, back or lower limb - serial MRI
Urological = Neuropathic bladder
• Renal failure prev major cause of death
• Goals - preserve renal function, ensure emptying and prevent infection
• Achieve continence
GIT = Neuropathic bladder
Musculoskeletal
• Neonatal - DDH, clubfoot
• Chilhood - mobility, joint position
• Older - scoliosis
Cognitive function
Self esteem/sexuality
Transition
Chiari Malformation
• Most common congenital malformation of posterior fossa and hindbrain
• Herniation of cerebellar tonsils
• Type 1 - tonsils abnormally shaped, displaced below foramen magnum, incidious present in adolesence with increased ICP, cranial neuropathies
• Type 2 (Arnold Chiari) - nearly all have myelomeningocele - assoc hydrocephalus, detected at birth
• Type 3- rare - resp failure at birth, high mortality
• Ix - fetal US, MRI
Mx - medical, surgical Mx repairs
Lissencephaly and Schizencephaly
Lissencephaly
• Absence of cerebral convolutions and poorly formed sylvian fissure
• Clin pres - FTT, microcephaly, developmental disorder, seizures
• Syndromes - Miller-Dieker syndrome, Walker Warburg variant
Schizencephaly
• Clefts within hemispheres - abnormal morphogenesis
• Clin pres - bilateraly - severe ID, seizures, microcephaly, spastic quadriplegia
Unilateral - congenital hemiparesis