7 documents found, page 1 of 1
COARSE FACE, HYPOTONIA, AND NEURODEVELOPMENTAL REGRESSION
Miranda, A; Ezequiel, M; Luis, C; DupontI, J; GasparII, P; Vilarinho, L, et al.Inborn errors of metabolism are a heterogeneous class of multisystemic diseases which, although individually rare, are collectively quite common. Central nervous system is usually affected. The authors report the case of a five-month-old girl, daughter of non-consanguineous parents, born after an unremarkable full-term pregnancy and delivery. Hypotonia and neurodevelopmental regression were noted from the age o...
Síndrome de hemiconvulsión-hemiplejía-epilepsia: caso clínico y uso de dextrome...
Coelho, J; Santos, T; Ezequiel, M; Luis, C; Levy, A
Hemiconvulsion-hemiplegia-epilepsy Syndrome: Case Report and Use of Dextrometho...
Coelho, J; Santos, T; Ezequiel, M; Luís, C; Levy, A
Acidente Vascular Cerebral Isquémico num Lactente Filho de Mãe Vegana
Amaral, J; Ezequiel, M; Luis, CO acidente vascular cerebral é uma doença rara na infância (2,7 por 100 000 crianças por ano). A hiperhomocisteinemia é um fator de risco independente para a aterosclerose prematura, sendo habitualmente secundário a mutações na enzima metiltetrahidrofolato redutase ou défice de vitamina B12, na idade pediátrica. Descreve-se o caso clínico de um lactente de 10 meses, observado no serviço de urgência por queda da...
Quando o mau trato é diagnóstico diferencial
Ezequiel, M; Escobar, C
Pseudotumor cerebri as the presentation of Lyme disease in a non-endemic area
Ezequiel, M; Teixeira, AT; Brito, MJ; Luís, CIntracranial hypertension is a rare entity in prepubertal children, and its differential diagnosis includes a number of systemic diseases, drugs, vitamin deficiencies and excesses, and hereditary conditions. Infectious aetiology is rare. The case of a 9-year-old boy with intracranial hypertension secondary to acute neuroborreliosis is described. He presented with daily pulsatile frontotemporal headache, pallor,...
Mês da prevenção dos maus tratos na infância
Escobar, C; Fonseca, F; Almeida, H; Romeiro, J; Tavares, L; Torre, ML; Ezequiel, M; Santos, P; Vidal, T; Silva, T