Cleidocranial dysplasia syndrome with epilepsy: a case report

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.

A novel de novo variant in the RUNX2 gene causes cleidocranial dysplasia in a Malian girl

“…Furthermore, our patient had a focal neurological deficit and seizures but no intellectual disability. A case with neurological symptoms were previously reported but attributed to secondary complications such as brain injuries, infections or hemorrhage 11 . Brain CT‐scan showed the absence of the upper part of the frontal and the parietal bones and a dilatation of the occipital horns of the lateral ventricles which may be related to focal atrophy.…”

Hiperdontia em paciente portadora de displasia cleidocraniana, acompanhamento de 14 anos: relato de caso

“…Não são observadas diferenças significativas quando se fala em incidência entre sexos na displasia. Sua taxa de ocorrência se mostra entre 1:100000, fazendo com que esta seja uma condição rara 4,8 .…”

Application of 3-D Imaging in a Familial Case of Cleidocranial Dysplasia

“…Although motor development may be delayed, but in most cases mental development is normal. 12 Intraorally, the presence of supernumerary and impacted teeth in the premolar area is the most important feature. Delayed exfoliation of primary teeth and delayed eruption of permanent teeth are other common features.…”