SESSION TITLE: Miscellaneous Global Case Reports
SESSION TYPE: Global Case Report
PRESENTED ON: Tuesday, October 29, 2013 at 01:30 PM - 02:30 PM
INTRODUCTION: Chloride channelopathies were more intensely studied after the discovery of CFTR (Cystic Fibrosis Transmembrane Regulator and after cloning the first chloride channel in 1982. In Cystic Fibrosis and Juvenile Myoclonic Epilepsy, defective chloride channels are the triggers of pathophysiologic cascades that lead to phenotype expression.
CASE PRESENTATION: We describe a 15 years female with CF del F508/N1303K followed up from the age of 6 years, with chronic endobronchial infection with Pseudomonas aeruginosa, subacute episodes of Allergic Bronchopulmonary Aspergillosis, allergic asthma and rhinitis, nasal polyposis and recently diagnosed Juvenile Myoclonic Epilepsy with typical myoclonic jerks triggered by sleep deprivation. The clinical manifestations of JME were ignored by the family till tonic-clonic seizures appeared that needed hospitalization and more serious investigations (electroencephalography, CT). A new added diagnosis of a chronic genetic disease (that seemed to be sporadic in the family) negatively impacted the emotional status and quality of life of the patient. Since starting specific therapy with Levetiracetam, rare jerks occured, triggered by emotional stress and fatigue, but more frequent pulmonary exacerbations.
DISCUSSION: The association of two genetic traits in the same patients may not be so unusual, but incited us to further investigate phenotype-genotype correlations, trying also to identify the epilepsy-causing mutations.
CONCLUSIONS: We consider that there is a need to explore the potential overlap between CF and JME, the role of genetic expression of mutations in this patient.
Reference #1: Channelopathies and juvenile myoclonic epilepsy Patrick Cossette; Epilepsia, 51(Suppl. 1): 30-32, 2010 doi: 10.1111/j.1528-1167.2009.02439.x
DISCLOSURE: The following authors have nothing to disclose: Laura Dracea
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