Crisis aguda de cianosis en un lactante / Acute cyanotic episode in an infant

La metahemoglobinemia es una causa de cianosis poco frecuente en la edad pediátrica, debida a la exposición a agentes oxidantes de la hemoglobina, como los nitratos, presentes en el agua o verduras (espinacas, acelgas, zanahorias, calabacín y judías verdes).La metahemoglobinemia asociada a alimentos infantiles ricos en nitratos ha sido descrita frecuentemente. El consumo de puré de verduras conservado deficientemente es una causa potencial de metahemoglobinemia infantil adquirida. Los lactantes de menos de 6 meses de edad son particularmente susceptibles a padecer esta entidad. Presentamos el caso de un lactante de 9 meses, traído al Servicio de Urgencias con cianosis central tras la ingesta de un puré de verduras preparado de forma casera y conservado en nevera durante más de 48 horas. El porcentaje de metahemoglobina determinado por cooximetría fue del12,1%. El cuadro se resolvió completamente en 6 horas sin precisar tratamiento con azul de metileno (AU)

Methemoglobinemia is a rare cause of cyanosis in paediatricage due to the exposure to haemoglobin-oxidizingagents such as nitrates present in well water or vegetables(spinach, beets, carrots, courgette and green beans).Methemoglobinemia associated with high-nitrate infant food has been reported frequently. Consumption of vegetable puree with an incorrect storage is a potential cause of acquired infantile methemoglobinemia. Infants younger than 6 months old are particularly susceptible to this condition. We report a case of a 9-month-old male infant who was brought to the paediatric emergency department with central cyanosis after eating a homemade mixed vegetable puree prepared in advance and stored in the refrigerator longer than 48 hours. His methemoglobin level determined by cooximetry was12.1%. After 6 hours, the syndrome was completely resolved without needing methylene blue treatment (AU)

Lesiones purpúricas en extremidades / Purpuric lesions of the extremities

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Screening neonatal / Neonatal screening

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[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. / Aciduria metilmalónica con homocistinuria de inicio neonatal: mejoría bioquímica y clínica con betaína.

Methylmalonic aciduria and homocystinuria is a very rare inborn error of cellular cobalamin (Cbl) metabolism. We describe the biochemical evolution and clinical course of a boy with neonatal onset CblC mutant defect.Born after a normal pregnancy, the patient developed general hypotonia and severe feeding difficulties at 5 days of life. Diagnosis of methylmalonic aciduria and homocystinuria was established by amino-acid and organic acid analysis and was confirmed by enzyme and genetic studies. The patient was initially treated with parenteral hydroxocobalamin (1 mg/day), oral carnitine (100 mg/kg/day) and a restricted protein diet. This treatment returned methylmalonic acid levels to normal. Despite the parenteral hydroxocobalamin therapy, the patient showed no improvement in neurological dysfunction, hypotonia or developmental delay. Oral betaine supplementation (3 g/day) from months 3-15 reduced plasma total homocysteine and homocystinuria. The patient showed clinical improvement in neurological and growth development. We conclude that early betaine therapy was safe and effective in our patient with neonatal onset methylmalonic aciduria and homocystinuria type CblC.

Aciduria metilmalónica con homocistinuria de inicio neonatal: mejoría bioquímica y clínica con betaína / Neonatal onset methylmalonic aciduria and homocystinuria: biochemical and clinical improvement with betaine therapy

La aciduria metilmalónica con homocistinuria es un infrecuente error del metabolismo celular de la cobalamina (cbl). Se describe la evolución bioquímica y el curso clínico de un paciente con la mutación cblC de comienzo neonatal. Nacido tras una gestación normal, desarrolló una hipotonía general y graves dificultades de alimentación a los 5 días. El diagnóstico de aciduria metilmalónica con homocistinuria fue establecido basándose en los análisis de los aminoácidos y de los ácidos orgánicos, y confirmado mediante estudios enzimáticos y genéticos. El paciente fue tratado inicialmente con hidroxicobalamina parenteral (1 mg diario), carnitina oral (100 mg/kg/ día) y dieta hipoproteica. Este tratamiento normalizó los niveles de ácido metilmalónico. A pesar del tratamiento con hidroxicobalamina parenteral, la disfunción neurológica, la hipotonía y el retraso del desarrollo no experimentaron ninguna mejoría. La suplementación con betaína oral (3 g diarios) desde el 3.º al 15.º mes produjo una disminución de la homocisteína total y de la homocistinuria. El paciente presentó mejoría clínicamente de su desarrollo neurológico y somatométrico. Se concluye que el tratamiento precoz con betaína fue seguro y efectivo en nuestro paciente con aciduria metilmalónica con homocistinuria tipo cblC de inicio neonatal (AU)

[Relapses and complications of acute lymphoblastic leukemia in childhood: a review of cases]. / Recaídas y complicaciones de la leucemia linfoblástica aguda en la infancia: una revisión de nuestros casos.

The relapses and complications happened on the 17 cases of children with acute lymphoblastic leukemia in the Hospital General de Segovia have been reviewed from November 1974 to September 1989. Those which have a higher interest because of their relevance or infrequency have been under discussion. Among the relapses the pulmonary and the testicular are singled out. We differentiate between the complications produced during the treatment and the long-term ones, pointing up varicella as an infectious complication.

[Familial Crohn disease]. / Enfermedad de Crohn familiar.

Authors report two cases of Crohn's disease in a brother and a sister. Female showed first manifestation at 8 years of age. Male started at 12 years. Onset was acute in the girl with ileo-cecal and colonic involvement and extraintestinal manifestations. The boy had an insidious onset with ileal involvement and striking rectal and perianal symptoms. In both cases, clinical course was chronic and relapsing. HLA A and B phenotypes were studied in both patients and their parents. Different factors concerning origin of disease, as well as relationship to other diseases among relatives are discussed.

[Munchausen syndrome by proxy]. / Síndrome de Munchausen por poderes.

Authors report case histories of four siblings with Munchausen syndrome by proxy. The diagnosis was made in the third daughter after six years. Two siblings had died as result of sudden unexplained death at two years old and twelve month old respectively. The mother had typical features outlined in some report. She denied the provocation of any episode and refused further psychiatric help but she accepted medical supervision. A review of the literature: warning signals, plan of action in order to assess the diagnosis and management of this problem are outlined, establishing a discussion about the repercussion of this syndrome.

[Value of routine preoperative tests in children]. / Valor de la rutina preoperatoria en la infancia.

To asses the value of preoperative tests in pediatric patients, a retrospective study of 722 surgical patients was undertaken. No unsuspected abnormalities or underlying diseases leading to the cancellation or postposition of surgery were found. Neither anaesthesia nor postoperatory complications were prevented by means of this procedure. We conclude that detailed anamnesis and physical examination are the most effective screening procedures and that radiologic and laboratory tests should be restricted to help in diagnosis and evaluation of the patient in emergency surgery and when the anamnesis, physical examination or a specific kind of surgery recommend it.