Abstract
A 7 month-old boy was admitted to hospital with repetitive tonic posturing of the four limbs suspected with epileptic seizures. The patient was originally diagnosed with chondrodysplasia punctata (CDP) branchytelephalangic type (BCDP) based on a peculiar facial appearance and calcific stippling around the hyoid, vertebrae and tarsal bones at 2 months. From 3 months, the patient had repetitive movements with both upper limbs in flexion at both elbow joints and both lower limbs in extension in a tonic posturing for 20 seconds. The patient could not turn over at the initial visit at 7 months, and increased muscle tone and spastic paralysis in the extremities were observed. Deep tendon reflexes were enhanced, and pathological reflexes were positive. An ictal electroencepharogram showed no abnormal epileptic discharges consistent with tonic posturing, diagnosed as non-epileptic movements. A cervical MRI showed spinal canal stenosis, subluxation of the annular axial vertebra, and cervical spinal cord compression at the first to second cervical vertebrae level. A cervical X-ray showed that the first cervical vertebra was anteriorly deviated and further anteriorly deviated in an anteversion position. First cervical vertebra laminectomy and craniocervical posterior fusion were performed at 1 year and 2 months, and bilateral peri arthroplasty and bilateral knee flexor tendon lengthening were performed at 4 years and 10 months. At 8 years old, he had spastic quadriplegia but could sit up and walk with support. The upper limbs could be used for writing and oral intake with assistive devices. Early detection of cervical spinal canal stenosis associated with BCDP detected at an early can improve the neurological sequelae by reducing cervical spinal cord compression. When cervical lesions are suspected, a cervical MRI should be performed, and surgical treatment should be actively considered, even at younger ages.
