Cleidocranial dysplasia syndrome with epilepsy: a case report

Cleidocranial dysplasia syndrome with epilepsy: a case report

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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, sensationnel kiyari 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, read more 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.