Cleidocranial dysplasia syndrome with epilepsy: a case report

• Main Authors: Yimei Ma, Fumin Zhao, Dan Yu
• Format: Article
• Language: English
• Published: BMC 2019-04-01
• Series: BMC Pediatrics
• Subjects: Cleidocranial dysplasia; RUNX2
• Online Access: http://link.springer.com/article/10.1186/s12887-019-1472-0

Abstract Background Cleidocranial dysplasia is a rare autosomal dominant disorder resulting in skeletal and dental abnormalities due to the disturbance in ossification of the bones. The prevalence of CCD is one in a million of live births, and epileptic seizures are rarer in this disease. Case presentation Herein, we present a case of a 10-year-old girl, who not only suffered with cleidocranial dysplasia, but experienced frequent seizures. We initiated an anti-epileptic treatment for this patient with dose adjustments to her weight of levetiracetam (10 mg/kg, bid) for 3 months. The epileptic seizures were controlled, but the intelligence level and control of epilepsy need to be followed up for a longer duration. Conclusions In clinical practice, if a patient has unusual facies, typical clavicle defect, skull bone enlargement, and unclosed anterior fontanelle, we should consider the possibility of cleidocranial dysplasia, genetic detection are helpful to make a confirmed diagnosis. In such cases, early diagnosis and treatment is important to correct deformities and improve the quality of life of patients.