Severe spinal stenosis in an adult achondroplastic dwarf

• Published in: Romanian neurosurgery Vol. 17; no. 4
• Main Authors: B. Iliescu, S. Gaivas, C. Apetrei, I. Poeată
• Format: Journal Article
• Language: English
• Published: London Academic Publishing 01.12.2010
• Subjects: achondroplasia; spinal stenosis; surgical decompression
• ISSN: 1220-8841; 2344-4959

Achondroplasia is the most common form of human short-limbed dwarfism and is one of a spectrum of diseases caused by mutations in the FGFR3 gene. Achondroplasia is estimated to occur in 1 in 10,000–30,000 live births4,7. The disease is autosomal dominant, but 80% of patients have new mutations. It is commonly associated with several neurological conditions such as hydrocephalus, cervicomedullary compression, cervical or thoracic cord compression, and lumbar spinal compression due to bone stenosis along the neuraxis. We report a case with severe spinal stenosis at the lumbar and thoracic levels, with minimal involvement of the cervical spine with late neurological onset in an adult patient with achondroplasia. Neurological and radiological findings and surgical procedures are discussed. The patient was admitted with profound spastic lower paraparesis and urinary incontinence. In the first operation we performed lumbar decompression and the patient improved and on the fifth day she was able to take a short walk. 3 months after the first surgery we intervened on the thoracic spine with a multi-level decompression which allowed for further neurological improvement, continued in a specialized medical facility. The case stands out as the clinical picture was dominated by the lumbar stenosis (although both lumbar and thoracic stenosis were severe at the time of presentation) with a late onset and sparing of the cervical spine.