Neurological presentations, imaging, and associated anomalies in 50 patients with sacral agenesis.
BACKGROUND
Sacral agenesis is an uncommon congenital disorder that involves multiple organs.


OBJECTIVE
We studied neurological manifestations of the disease, common associated disorders, and their relation with extent of bony malformation.


METHODS
We investigated neurological manifestations of 50 patients with sacral agenesis. Patients were evaluated for previous procedures, ambulation, limb abnormalities, vertebral alignment, recurrent urinary tract infection, urinary incontinence, dribbling, dimple, lower extremities weakness, myelomeningocele (MMC), and lipomyelomenangocele.


RESULTS
Weakness of lower extremities was seen in 37 (74%) patients. Concurrent weakness of proximal and distal muscles of the lower limb was statistically associated with a type of bony aplasia (P = .001). However, paraplegia was seen in only 2 of 44 children over the age of 1, and the rest could walk. Myelodysplastic syndromes were seen in 21 patients. Sacral agenesis is diagnosed in children with concomitant MMC at younger ages and reveals more severe symptoms. Progression of neurological disorders was seen in 19 patients, in all of whom MRI showed tethering of the spinal cord. Urinary disorders including diurnal urinary incontinence (in 30 of 35 children over age 4) and recurrent urinary tract infections (in 37) were also common. Imperforate anus was seen in 11 patients. Twelve children over age 4 reported fecal incontinence, a problem that had statistically significant association with imperforate anus (P = .013).


CONCLUSIONS
Different disorders can concurrently affect patients with sacral agenesis that may have profound impressions on patients and their families. Early diagnosis, thorough evaluation, and proper intervention are of utmost importance as they can prevent or lessen future complications.
Emami-Naeini
Parisa
P
Department of Neurosurgery, Children's Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Rahbar
Ziba
Z
Nejat
Farideh
F
Kajbafzadeh
Abdolmohammad
A
El Khashab
Mostafa
M
D000015:Abnormalities, Multiple; D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D000013:Congenital Abnormalities / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D003430:Cross-Sectional Studies; D003952:Diagnostic Imaging / Q000379:methods*; D005260:Female; D005767:Gastrointestinal Diseases / Q000209:etiology; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D008588:Meningocele; D009460:Neurologic Examination / Q000379:methods; D009493:Neurosurgery / Q000379:methods*; D012189:Retrospective Studies; D012307:Risk Factors; D012445:Sacrococcygeal Region / Q000002:abnormalities / Q000473:pathology / Q000503:physiopathology / Q000601:surgery; D013116:Spinal Cord / Q000002:abnormalities* / Q000473:pathology; D014570:Urologic Diseases / Q000209:etiology