Gorham's Disease of Spine
A 15-year-old boy presented at with a history of progressive deformity of the back and dull continuous back ache for the past six months, exertional dyspnoea for one month, progressive weakness of both lower limbs for the past 15 days, and loss of bladder and bowel control for the past two days. He gave a history of trauma (fall from a height of 3 feet) 7 years previously, following which he noticed progressive deformity of the chest.\nOn examination he showed a kyphoscoliotic deformity in the upper thoracic region, where the third to seventh ribs were absent on the left side, with visible cardiac pulsations. Complete loss of motor power was apparent in both lower limbs with complete absence of sensations from below the umbilicus with exaggerated deep tendon reflexes, extensor plantar, and clonus bilaterally.\nRadiological featuresof the thoracic spine and chest are described in , . A chest X-ray taken four years previously at 11 years of age showed almost normal appearing ribs with normal thoracic vertebrae, indicating that the disease was not congenital and was progressive. All the biochemical investigations performed were within normal limits, ruling out any metabolic or endocrine pathology. All the imaging modalities were consistent with angiomatosis lesions affecting the bone.\nThe patient underwent Pedicle screw fixation, laminectomyand deformity correction. The resected bone samples were sent for histopathological examination (). Intraoperatively, the bones were found to have a thin cortex and appeared to be honeycomb-like. Increased vascularity of the bones was observed and the morphology of the posterior elements was altered. The hold of the screws in the diseased vertebra was reasonably good. Good cord pulsations were seen after decompression. A chest tube was inserted on the left side due to an incidental pleural tear. On the second postoperative day, the drain was removed and the patient was made to sit up-right. The patient was administered bisphosphonates and was referred to Physical Medicine and Rehabilitation ().\nThe patient recovered well postoperatively. At 4 weeks he was able to sit on his own, was able to walk with minimal support, and the neurology improved to American Spinal Injury Association (ASIA) grade D. The patient was reviewed at 1 year follow up. He was asymptomatic without any progression of the disease clinically or radiologically.