Congenital spinal dermal sinuses: poor awareness leads to delayed treatment
R Ramnarayan1, A Dominic, J Alapatt
1Department of Neurosurgery, Medical College, Kozhikode, India. r_ramnarayan@yahoo.com
Insights
Congenital spinal dermal sinuses are rare birth defects. Increased awareness among primary care physicians is crucial for timely diagnosis and appropriate management of these patients.
Area of Science:
- Neurology
- Pediatric Surgery
- Medical Education
Background:
- Congenital spinal dermal sinuses are uncommon abnormalities arising from abnormal neurulation.
- Lack of awareness, particularly at the primary care level, leads to delayed diagnosis and suboptimal management.
- This case series highlights the challenges in managing these patients.
Purpose of the Study:
- To emphasize the importance of recognizing congenital spinal dermal sinuses.
- To advocate for improved awareness and earlier referral of patients with this condition.
Main Methods:
- A case series of nine patients (six males, three females) treated over three years in the UK and India.
- Patients' ages ranged from 2.5 months to 19 years.
- Diagnosis was confirmed via MRI, revealing sinus tracts in all cases, with associated intramedullary dermoids in five.
Main Results:
- Clinical presentations included meningitis and neurological deficits; one patient was asymptomatic.
- Surgical excision of the sinus tract and any associated tumor was performed.
- Neurological outcomes included one patient normalizing, four improving, and four remaining unchanged.
Conclusions:
- A significant delay (mean 5 years) occurred between initial medical assessment and correct diagnosis/referral.
- Enhanced awareness among primary care physicians is essential for early detection and specialist referral.
- Prompt diagnosis and management can improve patient outcomes for congenital spinal dermal sinuses.
Objective:
Congenital spinal dermal sinuses are relatively uncommon congenital abnormalities that result from abnormal neurulation. Lack of awareness about this problem, especially at the primary care level, results in these patients not being managed appropriately. This issue is highlighted in this case series of nine patients.
Materials And Methods:
The nine patients--six males and three females--were treated over a 3-year period in two centres in the UK and India. The age varied from 212 months to 19 years. Clinical presentations included meningitis or neurological deficits. One was asymptomatic. MRI was done in all cases and showed the sinus tracts in all cases. In five cases, there were intramedullary dermoids and in the others the sinus tract ended either on the dura or blindly. All cases were treated surgically by excision of the sinus and tumour if any. In terms of the neurological status, one became normal, four improved and four remained the same. Of the four who remained the same, two had had normal neurological examination preoperatively. The mean duration from first assessment by a medical practitioner to correct diagnosis and referral to a neurosurgeon was 5 years (range 2 months to 18 years). Proper diagnosis and appropriate management was delayed in these cases because professionals were not aware of this condition.
Conclusions:
Primary care physicians should be made more aware about congenital spinal dermal sinuses. This will facilitate early diagnosis and referral to specialist services.
