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 Bar Stool 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 Digital Anti Theft System 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.