Natural history and management of cervical spine disease in chondrodysplasia punctata and coumarin embryopathy.

Abstract

PURPOSE:

Chondrodysplasia punctata (CDP) is a group of skeletal dysplasias manifesting with progressive cervical instability that leads to neurological deficits and eventual death. The major clinical features of CDP also present in a phenocopy known as coumarin embryopathy (CE) which results from coumarin exposure during pregnancy. The objective of this study was to assess treatment strategies employed for children affected by CDP or CE with cervical instability and to determine a strategy on how best to diagnose and treat affected neonates.

METHODS:

We performed a systematic review of the English literature for cases reporting cervical spine involvement in CDP and CE and identified 44 such patients. We extracted clinical information on these disorders and identified two patients from our craniovertebral junction database of over 6,000 patients evaluated at our institution.

RESULTS:

Patients most frequently present with hyperreflexia (21%) and weakness (21%), and there were various conservative treatment strategies. Twenty-one percent of patients who were treated conservatively had neurological complications in their clinical course. There were two deaths reported, one resulting from conservative treatment and one from surgical treatment. We also report long-term follow-up analysis for a patient treated at our institution for the last 30 years and agree with all other reports that suggest that monitoring patients for neurological changes is essential to prevent further neurological injury.

CONCLUSIONS:

This study emphasizes the need for careful neurological and surgical evaluation of pediatric patients with cervical spine abnormalities affected by CDP or CE in order to prevent progressive instability.

• Authors: Timothy W Vogel, Arnold H Menezes
• Journal: Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery (Childs Nerv Syst) Vol. 28 Issue 4 Pg. 609-19 (Apr 2012) ISSN: 1433-0350 [Electronic] Germany
• PMID: 22274407 (Publication Type: Case Reports, Journal Article, Review, Systematic Review)

Chemical References

• Coumarins
• coumarin

Topics

• Adult
• Cervical Vertebrae (diagnostic imaging)
• Chondrodysplasia Punctata (diagnostic imaging, therapy)
• Coumarins (adverse effects)
• Disease Management
• Female
• Fetal Diseases (chemically induced, diagnostic imaging, therapy)
• Humans
• Male
• Pregnancy
• Radiography
• Spinal Diseases (diagnostic imaging, therapy)