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Congenital Midline Spinal Hamartoma in a 5-Month-Old Infant
Elric Brahm Malelak1, Christopher Lauren1, Donny Argie1
1Department of Neurosurgery, Prof. Dr. W. Z. Johannes Kupang Regional General Hospital, Kupang, East Nusa Tenggara, Indonesia.
Insights
Congenital midline spinal hamartoma is a rare pediatric tumor. Surgical removal is effective for this benign growth, often associated with spinal dysraphism, with good patient outcomes.
Area of Science:
- Pediatric Neurosurgery
- Developmental Biology
- Skeletal Biology
Background:
- Congenital midline spinal hamartoma is an exceptionally rare tumor-like proliferation primarily affecting children.
- This condition involves mature ectodermal and mesodermal elements in an aberrant location, frequently linked to neurofibromatosis type 1 and spinal dysraphism.
Observation:
- A 5-month-old infant presented with a congenital lower back mass, a subcutaneous lesion with a skin dimple.
- Imaging revealed a dural mass and closed spinal dysraphism from L3 to the sacrum.
- Histopathology confirmed a hamartoma composed of fat, cartilage, muscle, nerve, and vascular tissue.
Findings:
- Surgical subtotal resection was performed on the pediatric patient.
- Post-operative follow-up at 6 months showed no recurrence, neurological deficits, or further growth.
- Histopathological analysis confirmed the benign nature of the hamartoma.
Implications:
- Congenital midline spinal hamartoma requires definitive diagnosis via biopsy to differentiate from other spinal anomalies.
- Surgical excision is the primary treatment, crucial for cosmetic improvement and preventing neurological compromise.
- Early diagnosis and intervention can lead to favorable outcomes, as demonstrated by the patient's successful recovery.
Background:
Congenital midline spinal hamartoma is a very rare tumor-like proliferation that mostly occurs during childhood. It consists of mature, well-differentiated ectodermal and mesodermal elements that present in an abnormal location and are mostly associated with neurofibromatosis type 1 and spinal dysraphism.
Case Description:
A 5-month-old male patient presented with complaint of a bump over the lower back. The bump was already present since birth with the size of approximately 3 cm in diameter and slow growth. There were no other associated symptoms besides the bump on the lower back. In the physical examination, we found a subcutaneous mass with associated skin dimple located on the midline of the lower back. Computed tomography scan of the spine showed a mass that arose from inside the dura and a closed spinal dysraphism from L3 vertebra to the sacrum. A subtotal resection was performed, and the histopathology feature showed fat cells, cartilage, skeletal muscle fibers, nerve, and blood vessel. After 6 months follow-up, no symptoms or neurologic deficit were present, and no further growth was shown on the latest computed tomography scan.
Conclusions:
Congenital midline spinal hamartoma is very rare and seldom addressed. Most patients present with a cosmetic defect and rarely with associated symptoms. Tissue biopsy is still the best modality to definitively diagnose hamartoma and to exclude other diagnoses. Surgical excision of the tumor is still the mainstay treatment, especially for patients who are not neurologically intact and to correct the cosmetic skin defect.
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