ABSTRACT
Malformations of cortical development are increasingly recognized as important causes of epilepsy, developmental delay and other neurological disorders. Our purpose is to present the relevance of the MRI in these pathologies with the clinical, genetic and therapeutic aspects. This classification is based on the three fundamental events of cortical formation: proliferation of neurons and glie in the periventricular zone, migration of postmitotic neurons to the periphery, subsequent cortical organization. MR analysis evaluates particularly the cortical thickness, sulcal and cortical morphology, gray-white matter junction, and looks for gray matter in abnormal location. These data coupled with the familial history, the seizure characteristics and genetic findings should allow an appropriate classification of the lesions. MR imaging allows the detection and classification of cortical malformations. MR imaging findings are primordial to consider surgery when the epilepsy becomes refractory to the anti-epileptic drugs. An adequate classification of these malformations should help to provide to the family an appropriate counseling both in terms of genetics and outcome.
Subject(s)
Cerebral Cortex/abnormalities , Epilepsy/diagnosis , Magnetic Resonance Imaging , Nervous System Malformations/diagnosis , Adolescent , Adult , Brain Neoplasms/diagnosis , Cerebral Cortex/embryology , Child , Child, Preschool , Diagnosis, Differential , Epilepsies, Partial/diagnosis , Epilepsies, Partial/etiology , Epilepsy/etiology , Epilepsy/genetics , Epilepsy/surgery , Female , Ganglioglioma/diagnosis , Ganglioneuroma/diagnosis , Genetic Counseling , Humans , Infant , Infant, Newborn , Male , Nervous System Malformations/genetics , Pregnancy , Tuberous Sclerosis/geneticsABSTRACT
Report of a case and review of the literature: We report the case of a seven-year-old female kabuki patient suffering from severe bilateral deafness related to Mondini dysplasia and ossicular anomalies. A review of the literature in English confirms that hearing loss is a major component of Kabuki Syndrome (KS) with a frequency at around 32%. However the possible mechanisms have not been fully described and hearing loss is often attributed to otitis media, but one reported case had severe ossicular malformations, two had sensorineural deafness and three others had mixed deafness. Our observation is the first reported case of Mondini dysplasia in KS. Awareness by physicians of this problem has a major practical consequence as diagnosis of Mondini dysplasia implies searching for and surgical prevention and treatment of perilymphatic fistula in order to prevent meningitis.
