Neural Tube Defect (NTD)
Definition
Aetiology
Clinical Features
Investigations
Treatment
Source
ClinicalKey
www.drzubaidi.com
Medscape
- Failure of the neural tube to close during the first 30 days of foetal development
- 3 Types:
- Anencephaly - absence of most of the brain and calvarium (most severe)
- Encephalocele - protrusion of brain tissue and the meninges through a defect in the skull
- Spina Bifida - Failure of posterior vertebral arch to fuse
- Open/ closed
Aetiology
- Usually multifactorial
- Genetics
- Environmental (anticonvulsants, maternal diabetes, maternal folic acid deficiency)
Clinical Features
- Open - obvious
- Closed
- Cystic mass,
- Area of hypopigmentation or hyperpigmentation
- Cutis aplasia
- Congenital dermal sinus (sacral dimple)
- Telangiectasia/hemangioma
- Hairy patch (hypertrichosis)
- Skin appendages
- Asymmetrical gluteal cleft
Investigations
- MRI
- CT
Treatment
- Surgical closure
Source
ClinicalKey
www.drzubaidi.com
Medscape