ESPE Abstracts (2015) 84 P-2-235

Assessment of Foramen Magnum in Early Infancy is Efficient for Patients with Achondroplasia

Chisumi Sogi, Miki Kamimura, Akiko Hakoda, Junko Kanno, Ikuma Fujiwara & Shigeo Kure


Tohoku University School of Medicine, Sendai/Miyagi, Japan


Background: Achondroplasia is the most common form of human short-limbed dwarfism. The most serious complication in individuals with achondroplasia is narrowing of foramen magnum (FM) that results in cervicomedullary compression and sudden infant death. To avoid sudden infant death, early monitoring and implementation of the necessary medical intervention are important. However, the optimal method of screening for cervicomedullary compression continues to be debated.

Objective and hypotheses: To avoid severe complications that arise from narrowness of FM in achondroplastic infants, we assess narrowness of FM of our patients with achondroplasia and examine the timing and frequency of screening.

Method: Children with achondroplasia who were born at or referred to our hospital between April 2002 and June 2014 was collected. Retrospective analyses were done for age at first screening MRI scan, age at presented radiological cervicomedullary compression, neurological or respiratory symptoms, surgical history for FM decompression and VP shunting.

Results: 18 children ranging from 4 months to 12 years 5 months of age were analyzed. FM decompression was performed in six patients (33.3%) who had severe neurological symptoms including sleep apnea and quadriparesis, and VP shunting was performed in one patients (5.6%) with severe hydrocephalus. Radiological cervicomedullary compression presented in 17 of the 18 children between the ages of 1–13 months, and as many as 12 (66.6%) patients appeared to have cervicomedullary compression at their first MRI scan. Fifteen patients had their first MRI scan in 4 months, nine of which (60%) presented with cervicomedullary compression.

Conclusion: To avoid the risks of complications due to cervicomedullary compression, careful monitoring of any rapid changes in head size and observations of neurological and respiratory symptoms is important in patients with achondroplasia. As for formal screening of all children with achondroplasia, we advocate a first MRI scan at 4 months of life.

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