publication . Article . 2016

RETT SYNDROME: DIFFICULTIES OF DIAGNOSTICS (CLINICAL AND PSYCHOPATHOLOGICAL ASPECTS)

E. V. Malinina; I. V. Zabozlaeva;
Open Access Russian
  • Published: 01 Nov 2016 Journal: Russkij Žurnal Detskoj Nevrologii, volume 11, issue 3, pages 49-56 (issn: 2073-8803, eissn: 2412-9178, Copyright policy)
  • Publisher: ABV-press
Abstract
Showed a rare case of atypical forms of Rett syndrome in girl adolescent. The peculiarity of the disease was in the late manifestation of clinical symptoms (6 years old), when there was autistic behavior and regression in development, as well as rare stereotypical hand movements, with characteristic changes in the EEG as benign epileptiform patterns of childhood. In adolescence (12 years) there were episodes of hyperventilation and arrest breathing, deformation of the back, inappropriate laughter and screams. Was found mutation in the heterozygous state (s.674>G / N) in the gene MECP2 (exons 1–4) by the method of direct automatic sequencing.
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free text keywords: atypical form of rett syndrome, autistic regression, benign epileptiform patterns of childhood, sequencing method, lcsh:Neurology. Diseases of the nervous system, lcsh:RC346-429, Inappropriate laughter, Disease, Psychology, Rett syndrome, medicine.disease, medicine, MECP2, Pediatrics, medicine.medical_specialty, Electroencephalography, medicine.diagnostic_test, Psychiatry, Psychopathology, Girl, media_common.quotation_subject, media_common, Rare case
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