Síndrome de apnea obstructiva del sueño en un lactante / Obstructive sleep apnea syndrome in children

El síndrome de apnea obstructiva del sueño (SAOS), es una entidad clínica bien conocida en adultos pero que ha sido menos estudiada en la edad pediátrica. Diferentes estudios han mostrado que el SAOS infantil tiene una prevalencia alta (1-3 por ciento).Presentamos el caso de un paciente de 3 meses con episodios de apneas coincidiendo con el sueño profundo. El diagnóstico de apnea obstructiva se realiza por polisomnografía junto con registro cardiorrespiratorio y pulsioximetría. Mediante fibroscopia se confirma que la causa de la obstrucción era una hipertrofia de la base de la lengua. Desaparece la sintomatología tras la realización de glosopexia (AU)

Evolución clínica de dos pacientes con enfermedad granulomatosa crónica ligada al sexo / Clinical course of two patients with X-linked chronic granulomatous disease

El autor presenta dos casos de pacientes con enfermedad granulomatosa crónica ligada al sexo: un niño que padeció a los 9 meses de edad diarrea y peritonitis por Campylobacter jejuni y un niño que a los 2 años de edad presentó granulomas de repetición en piel y ganglios, y posteriormente, osteomielitis, todos los episodios por Serratia marcescens. Después de unos primeros años con infecciones graves, ambos pacientes, a partir de los 4 años de edad, estuvieron un periodo prolongado asintomáticos; en la actualidad, a la edad de 6 años, el primer paciente, y a los 14 años el segundo, clínicamente permanecen en buen estado de salud. El pronóstico ha mejorado con el empleo de profilaxis antibiótica (AU)

Enfermedad granulomatosa crónica. Revisión bibliográfica / Chronic granulomas disease: a review of the literature

La enfermedad granulomatosa crónica (EGC) es un raro trastorno genético que ocasiona dificultad en la síntesis de ciertas proteínas por los fagocitos, importantes para la producción de metabolitos oxidativos, superóxidos y peróxido de hidrógeno, necesarios para la lisis de bacterias y hongos. Ocurre en un caso por cada millón de personas y es cuatro veces más frecuente en varones. Los pacientes padecen infecciones de repetición por microrganismos catalasapositivos, las cuales se caracterizan por la producción de granulomas. Los granulomas se localizan en ganglios, piel, hígado, pulmón y huesos. El diagnóstico de esta enfermedad se confirma con el test de NAT (nitroazul de tetrazolio) o NBT (en inglés), la quimioluminiscencia, la producción de superóxido y el análisis bioquímico de los componentes de los neutrófilos. El tratamiento antibiótico agresivo, la profilaxis con trimetropimsulfametoxazol, el drenaje de los abscesos, los esteroides y el empleo de interferón gamma han reducido el número de infecciones en estos pacientes (AU)

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Gastroenteritis por Campylobacter jejuni y edema agudo hemorrágico del lactante / Campylobacter jejuni gastroenteritis and acute hemorrhagic edema of childhood

El edema agudo hemorrágico (EAH) del lactante es una vasculitis leucocitoclástica que afecta a niños entre los 4 y 24 meses de edad y consiste en la presencia de púrpura equimótica en escarapela y edema en extremidades o en la cara; no afectándose las vísceras. Se produce la resolución espontánea y completa en una o tres semanas. Ha sido considerada una variante del Síndrome de Schonlein Henoch pero de curso benigno. El EAH se ha relacionado con diferentes procesos infecciosos (tuberculosis pulmonar, infección por adenovirus, etc.). Nosotros presentamos un caso asociado a infección por Campylobacter jejuni (AU)

Hidrometrocolpos y polidactilia en una niña de dos años: síndrome de McKusick-Kaufman / Hydrometrocolpos and polydactytly in two-years-old girl: McKusick-Kaufman syndrome

Se conoce por hidrometrocolpos la distensión del útero y la vagina causada por la obstrucción al drenaje de las secreciones genitales. Aunque la mayoría de los casos son esporádicos, el hidrometrocolpos puede formar parte de un síndrome de herencia autosómica recesiva, el síndrome de McKusick-Kaufman, que se caracteriza por polidactilia postaxial, alteraciones cardiacas congénitas e hidrometrocolpos, como manifestaciones principales. En niñas con polidactilia, la presencia de una masa quística en pelvis debe alertar siempre de la posibilidad de un hidrometrocolpos. El diagnóstico ecográfico puede ser difícil, por lo que el estudio se completará con una vaginocistoscopia cuando se sospeche su existencia. Presentamos el caso de una niña de dos años y medio con hidrometrocolpos y polidactilia postaxial. Se describen los hallazgos clinicopatológicos en el contexto del espectro del síndrome de McKusick-Kaufman (AU)

Study of gastrointestinal polypeptides controlling gastric acid secretion in patients with primary antibody deficiency.

BACKGROUND: gastric abnormalities are a common feature in patients with primary antibody deficiency. The most important problem is the high incidence of stomach cancer found in these patients. Chronic atrophic gastritis with pernicious anemia is also a common finding that predisposes to gastric adenocarcinoma. The aim of the present study was to identify factors predictive of high risk for developing gastric cancer in patients with primary antibody deficiency. PATIENTS AND METHODS: we studied gastric hormones (gastrin, somatostatin and gastrin-releasing peptide, GRP) in 47 patients (23 children and 24 adults) with primary antibody deficiency. In accordance with the World Health Organization (WHO) classification, patients were diagnosed as having X-linked agammaglobulinemia (Bruton disease) in 13 cases, common variable immunodeficiency in 28, and hypogammaglobulinemia with hyperIgM in 6. Gastric biopsy was performed in 22 patients (16 children and 6 adults). Hormone determinations were carried out by radioimmunoassay. RESULTS: baseline serum gastrin levels were normal or increased compared with controls, but the response to stimulation with a hyperproteic diet was delayed in 18 patients and lower than in controls in 7. In 4 adult patients, all with pernicious anemia, gastric biopsy revealed chronic atrophic gastritis involving the stomach corpus and antrum (type B gastritis). The absence of a normal response of gastrin secretion to stimulation with a hyperproteic diet may be explained by this finding. Serum somatostatin and GRP levels were higher than in controls. No correlations were found between these findings and patient age, type of immunodeficiency or duration of clinical manifestations.

Study of gastrointestinal polypeptides controlling gastric acid secretion in patients with primary antibody deficiency.

BACKGROUND: Gastric abnormalities are a common feature in patients with primary antibody deficiency. The most important problem is the high incidence of stomach cancer found in these patients. Chronic atrophic gastritis with pernicious anemia is also a common finding that predisposes to gastric adenocarcinoma. The aim of the present study was to identify factors predictive of high risk for developing gastric cancer in patients with primary antibody deficiency. PATIENTS AND METHODS: We studied gastric hormones (gastrin, somatostatin and gastrin-releasing peptide, GRP) in 47 patients (23 children and 24 adults) with primary antibody deficiency. In accordance with the World Health Organization (WHO) classification, patients were diagnosed as having X-linked agammaglobulinemia (Bruton disease) in 13 cases, common variable immunodeficiency in 28, and hypogammaglobulinemia with hyperIgM in 6. Gastric biopsy was performed in 22 patients (16 children and 6 adults). Hormone determinations were carried out by radioimmunoassay. RESULTS: Baseline serum gastrin levels were normal or increased compared with controls, but the response to stimulation with a hyperproteic diet was delayed in 18 patients and lower than in controls in 7. In 4 adult patients, all with pernicious anemia, gastric biopsy revealed chronic atrophic gastritis involving the stomach corpus and antrum (type B gastritis). The absence of a normal response of gastrin secretion to stimulation with a hyperproteic diet may be explained by this finding. Serum somatostatin and GRP levels were higher than in controls. No correlations were found between these findings and patient age, type of immunodeficiency or duration of clinical manifestations.

[Radiologic digestive manifestations in patients with antibody deficiency]. / Manifestaciones digestivas radiológicas en pacientes con deficiencias de anticuerpos.

UNLABELLED: In order to establish a relationship between radiological and clinical data and/or early diagnosis of the complications frequently found in patients with hypogammaglobulinemia, we carried out gastrointestinal series (GIS) in 47 patients mean age 22.5 years with hypogammaglobulinemia or primary antibody deficiencies. RESULTS: 15 patients did not show any radiological abnormalities. Nodular lymphoid hyperplasia (NLH) was found in 23 cases. None of the patients with NLH had gastrointestinal symptoms. Radiologic signs of malabsorption were present in 15 cases. 2 patients with radiologic signs of malabsorption (mean age 12 years) did have clinical or laboratory finding suggesting a malabsortive syndrome. Moreover, 2 patients showing clinical manifestations of malabsorption did not show any significant radiological findings. 4 patients were diagnosed of chronic atrophic gastritis (CAG) by means of endoscopy and gastric biopsy, whereas only in one of these cases GIS showed gastric fold atrophy, compatible with the pathologic diagnosis of CAG; 2 of these patients progressed to gastric cancer, a diagnosis that was done by endoscopy. CONCLUSIONS: We have observed that NLH is more frequent in patients with hypogammaglobulinemia than in the normal population, it is asymptomatic and may be diagnosed by radiological methods. The radiological findings of malabsorption do not correlate with the clinical data. A combination of endoscopy and gastric biopsy is the method of choice for the early diagnosis of atrophic gastritis and gastric cancer, since the radiological alterations found in GIS appear at late times. We conclude that GIS supplies few data to the study of digestive manifestations in patients with hypogammaglobulinemia, except in the case of NLH.

[GM1 gangliosidosis, type I, Landing's disease. Presentation of a case and review of the literature]. / Gangliosidosis GM1 tipo I, enfermedad de Landing. Presentación de un caso y revisión de la literatura.

A case of type 1 GM1 gangliosidosis, also called Norman-Landing disease is reported. The patient' was a nine months old boy who presented psychomotor retardation since birth, coarse facies, hepatomegaly and macular cherry red spot. Roentgenographic findings were those of dysostosis multiplex. Bone marrow smear showed type 1 Gasser's cells, as it occurs in the storage diseases. The infant presented a severe B-galactosidase deficiency and died at the age of ten months. Recent advances in pathogenesis, diagnosis and future therapy are discussed.