RESUMO
Treatment resistant epileptic encephalopathy (EE) in childhood in a significant amount due to genetic damage or congenital abnormalities of the brain. The literature described a rare microcephalic-capillary malformation syndrome (Microcephaly-capillary malformation, MIC-CAP), manifested from the first month of life by the early onset of treatment-resistant epilepsy, severe progressive microcephaly, spastic tetraparesis, severe delay in psychomotor development, multiple, small-sized capillary angiomas on the body and underdevelopment of the fingers. The boy was diagnosed with a previously described variant of the nucleotide sequence in exon 2 of the STAMBP chr2 gene:74058171rs781694797 188A>G in the homozygous state, leading to the replacement of the amino acid p.Tyr63Cys in 63 protein position. This type of mutation chr2:74058171rs781694797 188A>G was also detected in the father and mother in the heterozygous state. This variant is considered as pathogenic, related to the patient's phenotype. The article presents a literature review of this syndrome and the case report.
Assuntos
Epilepsia , Microcefalia , Malformações Vasculares , Capilares , Criança , Complexos Endossomais de Distribuição Requeridos para Transporte/genética , Humanos , Masculino , Mutação , Síndrome , Ubiquitina Tiolesterase/genéticaRESUMO
The authors have analyzed 32 cases of complex treatment of severe forms of neonatal intraventricular hemorrhages and proved high clinical efficiency of complex treatment. The stage-by-stage application of tissue plasminogen activator and operation of extracorporeal cerebrospinal fluid filtration resulted in decreased mortality, reduced duration of the cerebrospinal fluid sanitation period, reduced number of shunting-dependent children. One year follow-up showed an improvement of the patients' quality of life.
Assuntos
Hemorragia Cerebral/terapia , Ventrículos Cerebrais , Fibrinolíticos/administração & dosagem , Terapia Trombolítica/métodos , Ativador de Plasminogênio Tecidual/administração & dosagem , Ultrafiltração/métodos , Hemorragia Cerebral/líquido cefalorraquidiano , Hemorragia Cerebral/diagnóstico por imagem , Idade Gestacional , Humanos , Recém-Nascido , Injeções Intraventriculares , Qualidade de Vida , Resultado do Tratamento , Ultrassonografia Doppler TranscranianaRESUMO
Herpes infection is one of the most common types of virus infections in children. Diagnosis of herpes infection in infants is complicated due to low-grade ambiguous clinical symptoms and compromised Immune system. Brain herpes infection is the most severe type of the herpetic diseases. The role of neurovisual methods (transcranial ultrasonography, computer tomography) is increasing in cases of herpetic encephalitis development.