An achondroplasic case with foramen magnum stenosis, hydrocephaly, cortical atrophy, respiratory failure and sympathetic dysfunction.

BACKGROUND: Achondroplasia is a relatively frequent genetic disorder that may lead to limb weakness, motor-mental retardation, hydrocephaly, and respiratory disorders. In this pathology, foramen magnum stenosis and accompanying disorders like respiratory depression is well documented. CASE PRESENTATION: A 2.5 year-old child with the diagnosis of achondroplasia admitted to our clinic with severe respiratory depression, limb weakness, and motor mental retardation as well as sympathetic dysfunction. In radiologic evaluations, severe foramen magnum stenosis was detected. The patient was operated and posterior fossa decompression was accomplished to prevent compression of respiratory centers and neurons. CONCLUSION: This case is unique with the narrowest foramen magnum reported up to date and the sympathetic dysfunction which is not reported as a complication in achondroplasic patients. The authors review the relevant literature, focusing on the indications for cervicomedullary decompression in infants with achondroplasia.

Frequency of acquired von Willebrand's disease in children with congenital heart disease.

OBJECTIVE: Bleeding tendency of paediatric patients with congenital heart disease has been well recognized. The underlying pathologies of this bleeding tendency have been studied extensively and many causes were identified. Among these causes, we aimed to find the frequency of acquired von Willebrand's disease (AvWD) in children with congenital heart disease. MATERIAL AND METHODS: Forty-nine children with different forms of congenital cardiopathies who were assigned for surgery, are included in the study. Serum von Willebrand factor antigen level as well as ristocetin cofactor agglutination ratios were determined preoperatively and at one week and 6 months postoperatively. RESULTS: Six patients (12.2%) were found to have AvWD. However, we found no relation between bleeding tendency and AvWD status. CONCLUSION: Although frequency of von Willebrand factor deficiency is higher in children with congenital heart disease than in the normal population, this condition does not result in adverse clinical outcomes like increased bleeding tendency during operation.