RESUMO
We report the clinical, electrophysiologic, ophthalmologic, and neuropsychologic features of six patients with hyperammonemia-hyperornithinemia-homocitrullinuria syndrome, an inborn error of ornithine metabolism. Pyramidal signs, decreased vibration sense, bucco-facio-lingual dyspraxia, and learning difficulties or subnormal intelligence were found in the majority. Anomalies of peripheral nerve conduction velocity and of evoked potentials were common, and one patient had markedly abnormal white matter images on cranial magnetic resonance imaging. One patient had retinal depigmentation and chorioretinal thinning. The clinical severity varied greatly among patients; in general, the three younger patients had less neurologic and intellectual impairment than did the three older patients. Only two of our patients have had episodes of symptomatic hyperammonemia. We conclude that hyperammonemia-hyperornithinemia-homocitrullinuria syndrome can be associated with widespread manifestations in the central and peripheral nervous systems. Although the control of hyperammonemia is an essential element in the treatment of these patients, the relationship of hyperammonemia to the chronic neuropsychologic problems of these patients is unclear.
Assuntos
Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Amônia/sangue , Citrulina/análogos & derivados , Oftalmopatias/complicações , Doenças do Sistema Nervoso/complicações , Testes Neuropsicológicos , Ornitina/sangue , Adolescente , Adulto , Erros Inatos do Metabolismo dos Aminoácidos/complicações , Criança , Pré-Escolar , Citrulina/urina , Oftalmopatias/diagnóstico , Feminino , Humanos , Masculino , Doenças do Sistema Nervoso/diagnóstico , Desempenho PsicomotorRESUMO
We undertook a prospective, controlled study to evaluate the effect of trimethoprim-sulfamethoxazole in children with proven Escherichia coli O157:H7 enteritis on the duration fo symptoms, on fecal excretion of pathogen, and on the risk of progression to hemolytic-uremic syndrome. There was no statistically significant effect of treatment on progression of symptoms, fecal pathogen excretion, or the incidence of HUS (2/22 vs 4/25; p = 0.67). Our results suggest that a multicentric trial using rapid diagnostic methods to permit early randomization should be carried out.
Assuntos
Enterite/tratamento farmacológico , Infecções por Escherichia coli/tratamento farmacológico , Combinação Trimetoprima e Sulfametoxazol/uso terapêutico , Criança , Pré-Escolar , Enterite/microbiologia , Escherichia coli/classificação , Escherichia coli/isolamento & purificação , Infecções por Escherichia coli/complicações , Fezes/microbiologia , Feminino , Síndrome Hemolítico-Urêmica/etiologia , Humanos , Lactente , Masculino , Estudos ProspectivosRESUMO
A prospective study was performed to estimate the frequency of gastroenteritis due to Yersinia enterocolitica in Montreal children and their families. Evidence of bacterial infection was correlated with clinical features and serologic responses. YE was isolated from the stools of 181 (index cases) of 6,364 children with gastroenteritis over a 15-month period; Salmonella was isolated from 280 and Shigella from 68. Median ages were 24, 30, and 41 months, respectively. All but 18 YE isolates were biotype 4, serotype 0:3. YE was not found in the stools of 545 children without gastrointestinal symptoms. Clinical manifestations of the index cases with YE biotype 4, serotype 0:3 (n = 57) included diarrhea (98%), fever (88%), abdominal pain (64.5%), and vomiting (38.5%) with mean durations of 14, 3.9, 7.7, and 2.4 days, respectively. The duration of excretion of YE in the stool ranged from 14 to 97 days (mean 42). Spread of YE occurred in 27 of 57 families studied, involving 15 of 41 children and 19 of 117 adult contacts; approximately one-third of infected contacts developed diarrhea. Agglutination titers of greater than or equal to 200 were demonstrated in all index cases infected with serotype 0:3, with the exception of two very young infants. YE is a frequent cause of bacterial gastroenteritis in Montreal children. The illness is characterized by persistent diarrhea and abdominal pain, prolonged YE excretion in the stools, and moderate communicability.