Dados do Trabalho

Título

Síndrome de Rett: relato de caso sobre as complicações de uma doença neurodegenerativa rara

RESUMO

Case presentation: EDMA is a 4 years and 11 months old female, born by Cesarean section. Her mother presented with asthma and fibromyalgia while pregnant. When EDMA was 6 months old, she started presenting myoclonic-atonic seizures. At 16 months, she was diagnosed with Autism Spectrum Disorder (ASD). At 17 months, EDMA began to walk, but, after 3 months, she presented with ataxic gait. At 23 months, a molecular study for Rett Syndrome (RS) was realized, detecting a variance of uncertain meaning of heterozygosity on the gene MECP2. When she turned 2 years old, she presented Neuropsychomotor developmental delay (NDD), manual stereotypies, global hypotonia, aggressiveness and intractable epilepsy. An electroencephalography evidenced suggestive findings of diffuse encephalopathy. 2 months later, a MRI exhibited discrete encefalic sulci and fissures global emphasis. At 3 years and 11 months, EDMA underwent a gastrectomy and, at 4 years and 1 month, she had an episode of bronchoaspiration during a seizure, which mostly occur during her sleep, with an interval of 2 days between episodes.
Discussion: this case describes complications related to RS, a rare neurodegenerative disease caused by a mutation on the X chromosome gene MECP2. This condition affects neurodevelopment and the patient usually has a typical development until 6 months, when symptoms, such as NDD, smaller brain growth, sleep disorders, global hypotonia, irritability, intractable epilepsy, gait dysfunction, disfagia and gastroesophageal reflux. Furthermore, this progressive encephalopathy, by presenting absence of protein 2 (MeCP2) methyl-cytokine ligand, generates a discrete encefalic atrophy, since MeCP2 is important for its adequate development. In addition, the presence of manual stereotypies, similar to handwashing, and lower social and environmental interest may lead to the equivocate diagnosis of ASD at early stages of the disease. A gastrectomy is also an important strategy for preventing bronchoaspiration caused pneumonias, some of the most prevalent causes of death in SR.
Final comments: in face of RS complications, more studies on this encephalopathy are necessary, since the correct diagnosis and multiprofissional intervention can contribute to the improvement of social abilities and to the attempt of preserving motor skills.

Palavras Chave

Rett Syndrome; Child; Neurodevelopmental Disorders.

Área

Neurologia Infantil