Subject(s)
Brain Diseases, Metabolic/complications , Brain/drug effects , Dystonic Disorders/drug therapy , Dystonic Disorders/etiology , Succinate-Semialdehyde Dehydrogenase/deficiency , Vigabatrin/therapeutic use , Adolescent , Brain/enzymology , Brain/physiopathology , Brain Diseases, Metabolic/enzymology , Brain Diseases, Metabolic/physiopathology , Dystonic Disorders/enzymology , Epilepsy/enzymology , Epilepsy/etiology , Extremities/physiopathology , GABA Agents/therapeutic use , Gene Expression Regulation, Enzymologic , Humans , Hydroxybutyrates/metabolism , Intellectual Disability/enzymology , Intellectual Disability/etiology , Italy , Male , Muscle, Skeletal/innervation , Muscle, Skeletal/physiopathology , Mutation, Missense/genetics , Succinate-Semialdehyde Dehydrogenase/genetics , Treatment Outcome , gamma-Aminobutyric Acid/metabolismABSTRACT
The authors report the unusual clinical and neurophysiologic features of a sporadic case of a boy carrying an 806delG mutation on the MECP2 gene. A 28-month-old boy was examined for severe developmental delay, seizures, microcephaly, breathing dysfunction, and spontaneous and evoked myoclonic jerks of upper limbs. Neurophysiologic study proved the cortical origin of myoclonus; however, it was not associated with signs of cortical hyperexcitability. 3-Methoxy-4-hydroxy-phenylethylene glycol and valine concentrations were low in CSF.
Subject(s)
Chromosomal Proteins, Non-Histone/genetics , DNA-Binding Proteins/genetics , Developmental Disabilities/genetics , Epilepsies, Partial/genetics , Epilepsy, Tonic-Clonic/genetics , Genetic Diseases, X-Linked/genetics , Myoclonic Epilepsy, Juvenile/genetics , Repressor Proteins/genetics , Chromosomal Proteins, Non-Histone/deficiency , Codon, Nonsense , DNA Mutational Analysis , DNA-Binding Proteins/deficiency , Developmental Disabilities/cerebrospinal fluid , Developmental Disabilities/physiopathology , Electroencephalography , Electromyography , Epilepsy, Tonic-Clonic/cerebrospinal fluid , Epilepsy, Tonic-Clonic/physiopathology , Evoked Potentials, Somatosensory , Genetic Diseases, X-Linked/cerebrospinal fluid , Genetic Diseases, X-Linked/classification , Genetic Diseases, X-Linked/diagnosis , Genetic Diseases, X-Linked/physiopathology , Humans , Infant, Newborn , Magnetic Resonance Imaging , Male , Methoxyhydroxyphenylglycol/cerebrospinal fluid , Methyl-CpG-Binding Protein 2 , Microcephaly/genetics , Myoclonic Epilepsy, Juvenile/cerebrospinal fluid , Myoclonic Epilepsy, Juvenile/physiopathology , Psychomotor Disorders/cerebrospinal fluid , Psychomotor Disorders/genetics , Psychomotor Disorders/physiopathology , Respiration Disorders/genetics , Rett Syndrome/genetics , Sequence Deletion , Sex Factors , Status Epilepticus/etiology , Video RecordingABSTRACT
This study attempted to better define clinical and EEG features for differential diagnosis between epilepsy and migraine in children with occipital epileptiform EEG abnormalities. We studied 126 children (57 males, 69 females; age 4-18 years) suffering from epilepsy (63), migraine (43) or both (20). Patients were selected because of the presence of epileptiform abnormalities in the occipital regions on their EEG at rest. Differences among groups were statistically analyzed (Pearson chi square; ANOVA) for sex, age at onset of seizures and migrainous attacks, family history, ictal signs and symptoms, EEG at rest (unilateral vs bilateral distribution of epileptiform abnormalities), and EEG during Hyperventilation (HV) and Intermittent Photic Stimulation (IPS). Significant differences were found in family history, ictal signs and symptoms, EEG at rest and during activation tests. A family history of epilepsy, visual symptoms such as colored hallucinations and micro/macropsias, frequently associated with clinical signs in the visual system (eye deviation, nystagmus), unilateral EEG abnormalities, and abnormal response to IPS were closely related to diagnosis of epilepsy. On the other hand, a family history of migraine, visual symptoms such as amaurosis and scotomata, without evident clinical signs, bilateral EEG abnormalities, and no changes during IPS were significantly related to migraine. In conclusion, these clinical and EEG differences should be considered in the differential diagnosis between epilepsy and migraine in children with occipital epileptiform EEG abnormalities.