[Psychomotor development in patients with severe congenital heart disease].

Aim: Retrospective analysis of the neurodevelopment in the first two years of life in patients with severe congenital heart disease.

Patients And Methods: Out of 89 patients with severe congenital heart disease 19 were excluded due to a history of prematurity and/or chromosomopathy, four due to a history of ischemic stroke and two due to lack of medical history. Denver Test (DT) results at 2, 6, 12, 15 and 18 months, and results in motor, language and social interaction fields were achieved.

Neuropsychological assessment among children and adolescents with phenylketonuria and hyperphenylalaninemia and its relationship with plasma phenylalanine levels.

Although with early treatment phenylketonuria patients may have average intelligence levels, it is important to optimize the nutritional management to maintain adequate phenylalanine levels, so that patients can develop their intellectal potential free of abnormalities in their daily activities due to deficits of cognitive executive functions. This study presents a series of 26 patients, diagnosed and treated early, who underwent a psychometric evaluation together with phenylalanine determinations along their lives, and at the time of doing the tests. A trend is observed towards a reverse relationship between IQ and concurrent phenylalanine concentration, phenylalanine median and phenylalanine/tyrosine ratio.

Clinical manifestations in female carriers of mucopolysaccharidosis type II: a Spanish cross-sectional study.

Background: Mucopolysaccharidosis type II (MPS II) is an inherited X-linked disease associated with a deficiency in the enzyme iduronate 2-sulfatase due to iduronate 2-sulfatase gene (IDS) mutations. Recent studies in MPS II carriers did not find clinical involvement, but these were mainly performed by anamnesis and patients' self-reported description of signs and symptoms. So although it is rare in heterozygous carriers, investigations in other types of inherited X-linked disorders suggest that some clinical manifestations may be a possibility.

First experience of enzyme replacement therapy with idursulfase in Spanish patients with Hunter syndrome under 5 years of age: case observations from the Hunter Outcome Survey (HOS).

Hunter syndrome (mucopolysaccharidosis type II [MPS II], OMIM309900) is a rare X-linked lysosomal storage disorder caused by deficiency of the enzyme iduronate-2-sulphatase, resulting in accumulation of glycosaminoglycans (GAGs), multisystem organ failure and early death. Enzyme replacement therapy (ERT) with idursulfase is commercially available since 2007. Early access programs were established since 2005.

[Benign convulsions with mild rotavirus gastroenteritis].

Introduction: Benign convulsions with mild gastroenteritis (CwG) are a rare diagnosis in Western countries, and it is characterized by afebrile seizures, almost times more than once, during a gastroenteritis without severe hydroelectrolitic affection. The most frequent implied virus is rotavirus. This is a benign disease, in spite of cluster seizures, and neither complementary explorations nor antiepileptic treatment is required.

[Diagnostic test in emergency departments for bacterial infections in infants younger than 12 months].

Objective: To evaluate clinical and analytic numeric data that may help the emergency departments to identify bacterial infections in infants.

Patients And Methods: A retrospective study of 430 infants with bacterial growth in cultures (culture from blood, 30; urine, 207; stools, 193, and/or cerebrospinal fluid, n 25) was performed. These patients were compared with a control group (n 430), randomly selected from patients aged less than 12 months with negative cultures who were hospitalized with suspected infection.

[Acute Gastroenteritis in hospitalized children. 14-Year evolution].

Objectives: To analyze the etiology and evolution of patients with acute gastroenteritis hospitalized in our pediatric department and to study the clinical and laboratory differences between acute viral and bacterial gastroenteritis.

Patients And Methods: We studied the children with a diagnosis of acute gastroenteritis, aged between 0 and 14 years, who were consecutively admitted between 1987 and 2000. Differences were considered statistically significant if p < 0.