Differential Diagnosis PCL 12

Spina bifida: developmental birth defect caused by the incomplete closure of the embryonic neural tube
Diffrential diagnosis
The classical appearance of spina bifida cystica is not likely to be confused with other pathologies.
But there are some other neural tube defects that we should consider before diagnosis
Differential diagnosis
1. Spine segmental dysgenesis

Diffrentating signs & symptoms
- A sporadic disorder characterised by congenital acute-angle kyphosis or kyphoscoliosis that is localised to a spinal segment, usually in the thoracolumbar or upper lumbar spine. [58]
-The spine is normal above and below the affected area and neurological impairment is due to congenital hypoplasia( underdevelopment or incomplete development of a tissue or organ) or absence of roots at the segment rather than to cord tethering.

Investigations:
-Plain x-rays will show vertebral anomalies such as hemivertebrae.
-MRI spine documents the specific spine and cord pathology such as vertebrae fusions or hemivertebrae, split cord, nerve malpositions, and low-lying cord
http://www.ajnr.org/cgi/content-nw/full/20/3/445/F1

2. Caudal Regression syndrome

Diffrentating signs & symptoms
-A rare disorder associated with maternal diabetes that affects the sacral or lumbosacral spine.
-Patients typically have sparing of sensation and characteristic sacral anomalies.
Investigations: Plain x-rays and MRI spine will show the characteristic bony defects.
http://www.gfmer.ch/genetic_diseases_v2/gendis_detail_list.php?cat3=5
3. Multiple vertebral segmentation disorder
Differentiating signs and symptoms: Autosomal recessive disorder characterised by short trunk dwarfism, multiple segmentation anomalies of the vertebral column, and costal anomalies.
Investigations: Plain x-rays and MRI spine identify the dystrophic vertebrae, and/or multiple fused vertebrae, kyphosis, split cord, syrinx, and dystrophic cord.

4.Sacrococcygealteratomas may mimic large sacral neural defects, located at the base of the coccyx
5. Split cord malformation
Signs and symptoms :back pain, urinary dysfunction, leg weakness and progressive equinovarus foot deformity.