ABSTRACT
A multicentric study of 15 cases of Rett syndrome selected with the diagnostic criteria according HAG-BERG et al: female sex, normal pre and perinatal period, normal psychomotor development through the first months of life, early dementia between 1-3 years of age with autistic behaviour, loss of acquired purposeful hand skill, "washing hands" stereotypies, normal head circumference at birth with later deceleration of head growth and truncal ataxia with gait apraxia. Waking EEG showed unspecific abnormalities while sleep recording demonstrated extremely frequent multifocal spike and sharp waves mainly over the rolandic region and generalized, and also pseudo-periodic suppression of background activity. In 3 cases the EMG showed a peripheral axonal neuropathy. Only in one case we found hyperammonemia. Karyotypic studies performed in 12 cases demonstrated non specific fragile sites. CT scan was normal in almost all cases. The QD was extremely low.
Subject(s)
Autistic Disorder/diagnosis , Developmental Disabilities/diagnosis , Psychomotor Disorders/diagnosis , Ammonia/blood , Autistic Disorder/blood , Autistic Disorder/physiopathology , Developmental Disabilities/blood , Developmental Disabilities/physiopathology , Diagnosis, Differential , Electroencephalography , Female , Humans , Psychomotor Disorders/blood , Psychomotor Disorders/physiopathology , Sleep Apnea Syndromes/physiopathology , SyndromeABSTRACT
A 17 year-old girl was suffering complex partial seizures, secondary generalized epilepsy and seizures manifested only by vomiting. The neurological, laboratory, radiological studies and the brain CT were normal. The EEG recording of an ictal vomiting showed bisynchronous spike-and-wave and sharp slow-wave discharges. An interictal paroxysmal focus of the right temporo-occipital region appeared at the EEG and a marked photoconvulsant effect was induced by light stimulation. The patient remained seizure-free for the last 4 years on carbamazepine therapy. The authors suggest the vomiting fits originate from the epileptic discharges on the Ammon's horn. The depths of the temporal lobe appear clearly involved in this type of seizures and the rolandic and pre-rolandic neighboring areas are attended too.
Subject(s)
Epilepsy/complications , Vomiting/etiology , Adolescent , Female , HumansABSTRACT
We describe 31 children with runs of high amplitude and variable frequency spike-and-wave discharges on the occipito-postero-temporal regions at the EEG. This characteristic EEG pattern can be seen on the posterior areas of one or both hemispheres only when the eyes are closed. A functional spike-wave focus of temporo-rolandic localization also occurred in 13 cases. Clinically, 10 children were seizure-free with minimal brain dysfunction in 8 of them. Of these, only 4 patients suffered from febrile convulsions while the 17 other patients were undergoing treatment for visual, motor or vegetative partial seizures, and even generalized fits. The prognosis of this essentially functional childhood epilepsy was good under phenobarbital therapy in almost all of our cases. This benign occipital epilepsy is related to childhood epilepsy with rolandic paroxysms.
