Neuropediatrics 2018; 49(S 01): S1-S12
DOI: 10.1055/s-0038-1653929
Poster Presentations
Georg Thieme Verlag KG Stuttgart · New York

Epileptic Encephalopathy with Recurrent Focal Status Epilepticus and Epilepsia Partialis Continua in Patient with De Novo DNM1L Mutation: Electroclinical Features

E. Musto
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
M. L. Gambardella
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
I. Contaldo
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
M. Quintiliani
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
M. Perulli
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
G. Olivieri
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
S. Bompard
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
S. Pulitanò
2   Intensive Care Unit, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
R. Battini
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
,
E. Bertini
4   Unit of Neuromuscolar and Neurodegenerative Disorders, Laboratory of molecular Medicine, Ospedale Bambino Gesù, Rome, Italy
,
D. Battaglia
1   Unit of Child Neurology, Catholic University, Fondazione Policlinico Universitario A. Gemelli, Rome, Italy
› Author Affiliations
Further Information

Publication History

Publication Date:
27 April 2018 (online)

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Child with a history of failure to thrive, sucking, and swallowing disorder, speech delay.

From 3 years onward, he presented relapsing episodes of refractory motor focal status epilepticus, involving the left side or the right side of the body, followed by transient epilepsia partialis continua and motor impairment.

The patient gradually developed tetraparesis. Currently (8 years) he has global development delay, aphasia, cortical visual impairment, kinesigenic dyskinesia and segmental erratic myoclonus. Other clinical features include hypothyroidism, adrenocortical insufficiency, hypogammaglobulinemia, dysautonomia.

Magnetic resonance imagings (MRIs) in SE demonstrated changes on diffusion-weighted imaging in the affected hemisphere. Follow-up MRI reveals cortical and subcortical atrophy, especially of the left hemisphere.

Ictal electroencephalography (EEG) showed rhythmic high amplitude delta with superimposed spikes and polyspikes, correlated with MRI changes as well as ictal symptoms. Interictal EEG shows widespread background slowing with paroxysmal multifocal discharges. Polygraphic recordings show segmental myoclonic jerks, epileptic, and nonepileptic.

Diagnostic workup for metabolic encephalopathy included plasma and liquor lactate levels and muscle biopsy—resulted normal—and genetic testing (NGS panel tailored to mitochondrial diseases), which reveled heterozygous missense mutations in DNM1L [c.1207C&gt,T (p.R403C)].

SE was refractory to multiple therapies, requiring several epileptic drugs, steroids, intravenous immune globulin, ketogenic diet, and pharmacologic coma with propofol. Movement disorder did not recover, despite high doses of benzodiazepine, baclofen, Nootropil, and trihexyphenidyl.

The aim of this report is to describe the electroencephalographic features to give a better contribution to the definition of the phenotype in a patient with DNM1L-related encephalopathy.