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1.
KMJ-Kuwait Medical Journal. 2013; 45 (4): 348-352
em Inglês | IMEMR | ID: emr-139632

RESUMO

Colpocephaly is an abnormal enlargement of the occipital horns of both lateral ventricles; it is also described as persistence of the fetal configuration of the lateral ventricles. Since it was first described, Colpocephaly has been found in association with several abnormalities of the brain. The spectrum of clinical presentation is wide, including mainly various degrees of mental retardation, seizures, and motor and visual abnormalities. Approximately 50 cases have been described in children. Herein we report three new cases of Colpocephaly. One of the cases was associated with CHARGE syndrome. To the best of our knowledge, this is the first publication to report such an association


Assuntos
Humanos , Masculino , Feminino , Síndrome CHARGE , Aberrações dos Cromossomos Sexuais , Ventrículos Cerebrais/patologia , Predisposição Genética para Doença , Lobo Occipital
2.
Medical Principles and Practice. 2012; 21 (6): 516-521
em Inglês | IMEMR | ID: emr-153241

RESUMO

To determine the rate of inappropriate pediatric admissions using the Pediatric Appropriateness Evaluation Protocol [PAEP] and to examine variables associated with inappropriateness of admissions. A prospective study was conducted in the Department of Pediatrics, Farwania General Hospital, Kuwait, to examine successive admissions for appropriateness of admission as well as several sociodemographic characteristics over a 5-month period [August 2010 to December 2010]. A total of 1,022 admissions were included. Of the 1,022 admissions, 416 [40.7%] were considered inappropriate. Factors associated with a higher rate of inappropriate admission included older age of patients and self-referral. The rate of inappropriate hospitalization of children was high in Farwania Hospital, Kuwait, probably due to the relatively free health care services, parental preference for hospital care, easy access to hospital services, and insufficient education about the child's condition

3.
KMJ-Kuwait Medical Journal. 2010; 42 (1): 63-65
em Inglês | IMEMR | ID: emr-171916

RESUMO

Beta-ketothiolase [BKT] deficiency is a rare inborn error of isoleucine and ketone body metabolism. Its clinical manifestations range from an asymptomatic course to severe life-threatening ketoacidotic attacks with coma and cardiomyopathy. Early diagnosis and proper management may save lives of several patients, prevent neuro developmental complications and lead to favorable outcome. We report this case of a twenty-month-old Indian boy with BKT deficiency. This is to alert pediatricians to this rare metabolic disorder and to consider it in patients presenting with metabolic acidosis. To the best of our knowledge this is the first case to be reported from Kuwait and also from India


Assuntos
Humanos , Lactente , Masculino , Erros Inatos do Metabolismo , Acidose
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