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Hum Mutat ; 38(11): 1477-1484, 2017 11.
Artigo em Inglês | MEDLINE | ID: mdl-28726266


Biallelic GLDN mutations have recently been identified among infants with lethal congenital contracture syndrome 11 (LCCS11). GLDN encodes gliomedin, a protein required for the formation of the nodes of Ranvier and development of the human peripheral nervous system. We report six infants and children from four unrelated families with biallelic GLDN mutations, four of whom survived beyond the neonatal period into infancy, childhood, and late adolescence with intensive care and chronic respiratory and nutritional support. Our findings expand the genotypic and phenotypic spectrum of LCCS11 and demonstrate that the condition may not necessarily be lethal in the neonatal period.

Artrogripose/diagnóstico , Artrogripose/genética , Genes Letais , Proteínas de Membrana/genética , Mutação , Proteínas do Tecido Nervoso/genética , Fenótipo , Artrogripose/mortalidade , Biópsia , Análise Mutacional de DNA , Evolução Fatal , Estudos de Associação Genética , Humanos , Lactente , Recém-Nascido , Masculino , Linhagem , Raízes Nervosas Espinhais/ultraestrutura , Sequenciamento Completo do Exoma
Eur J Paediatr Neurol ; 17(5): 522-5, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23603009


The knowledge about safety and efficacy of thrombolysis in paediatric stroke is limited, especially for very young children. We present an infant with cardioembolic stroke treated with alteplase. He had hypoplastic left heart syndrome since birth. He underwent Norwood operation, followed by bidirectional cavopulmonary anastomosis at 3 months. On aspirin therapy he was well until heart failure developed at the age of 9 months with 2 thrombi in the right ventricle. During the course of enoxaparin therapy sudden acute left-sided haemiplegia occurred. The emergency brain CT scan was normal. Informed consent was obtained from parents after explaining the alteplase treatment protocol and possible complications. Alteplase was administered i.v. according to standard adult stroke regimen. A control CT scan obtained 24 h later was negative for intracranial haemorrhage but the hypodense area in insula, internal capsule and subcortical area of the right parietal region were indicative of ischaemic stroke. Anticoagulation therapy was continued. He recovered hand functions after 5 days and full repertoire of movements on his left side 3 weeks later. A neurological examination performed 2 months after indicated mild residual haemiparesis and a modified Rankin scale score of 1. Three months later, the patient died of progressive heart failure. An international multicentre prospective trial is ongoing to investigate the safety and appropriate dose of alteplase for paediatric ages 2-17 years. The aim of this paper is to report safe use of alteplase even in a very young child.

Isquemia Encefálica/tratamento farmacológico , Acidente Vascular Cerebral/tratamento farmacológico , Humanos , Lactente , Masculino , Acidente Vascular Cerebral/diagnóstico , Ativador de Plasminogênio Tecidual/uso terapêutico , Tomografia Computadorizada por Raios X/métodos , Resultado do Tratamento