title: Congenital muscular dystrophy and epilepsy: a prospective case series of pediatric patients.
abstract: Congenital Muscular Dystrophies (CMDs) can be considered as a heterogeneous group of diseases characterized by marked weakness, generalized hypotonia and joint contractures. They are divided into pure and classical forms, without ocular and cerebral involvement, and complex forms, which are associated with cerebral abnormalities. Seizures have rarely been described in the pure forms while they seem to occur more frequently in complex forms. The aim of our study was to evaluate the incidence of seizure in CMD. Herein, the authors describe 16 cases of congenital muscular dystrophy (CMD) associated with different kinds of epileptic events, in order to study the pathogenic connection between the two clinical manifestations. In all described patients we reviewed the clinical, neurophysiologic, and neuroimaging data to determine any associations with epilepsy. The patients were divided into two groups: 14 cases with merosin positive CMD in one group and 2 patients with Walker Warburg syndrome (WWS) in the second group. In our study we found that in the first group, one benign myoclonic epilepsy (BME), one benign febrile convulsions had occurred. Also in one patient, the EEG revealed a moderately high voltage slow background with diffuse sharp waves reaching 300mV in amplitude with no clinical signs. In the merosin positive CMD patients, the presence of two different epileptic diseases, benign myoclonic epilepsy (BME) in one and febrile convulsion with tonic clinic seizures, may represent a new expression of merosine-positive congenital muscular disease (PCMD) in which the deficiency of an undiscovered muscular protein with a cerebral isoform may be the cause of epileptic events in this group of patients.
authors.affiliation: General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Vitaliti
authors.affiliation: General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Pavone
authors.affiliation: General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Romano
authors.affiliation: General Paediatrics O.U., Azienda Ospedaliera di Rilievo Nazionale e di Alta Specializzazione Garibaldi, Catania, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Barbagallo
authors.affiliation: Centre of Physical Medicine and Rehabilitation, Policlinico-Vittorio Emanuele Hospital, University of Catania, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Vecchio
authors.affiliation: Clinical Pathology Unit, Azienda Ospedaliera di Rilievo Nazionale e di Alta Specializzazione Garibaldi, Catania, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Ledda
authors.affiliation: Pediatric Department, Pediatric Nephrology Operative Unit of Sapienza University of Rome, Rome, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Lubrano
authors.affiliation: General Paediatrics O.U., Policlinico-Vittorio Emanuele University Hospital, University of Catania, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Falsaperla
mesh_terms: D002648:Child; D002675:Child, Preschool; D004569:Electroencephalography; D005260:Female; D006801:Humans; D015994:Incidence; D007223:Infant; D008279:Magnetic Resonance Imaging; D008297:Male; D009136:Muscular Dystrophies / Q000150:complications*; D012640:Seizures / Q000453:epidemiology* / Q000209:etiology*