Alveolar capillary dysplasia with misalignment of pulmonary [corrected] veins: concordance between pathological and molecular diagnosis.

We report the case of a newborn with alveolar capillary dysplasia with misalignment of pulmonary veins (ACD/MPV), a rare condition of unknown etiology presenting in the neonatal period with significant persistent pulmonary hypertension. The diagnosis was made by lung biopsy and confirmed at autopsy. Specific genetic analysis demonstrated defects in the FOXF1 gene. The diagnosis of ACD/MPV requires a high level of suspicion and is made by lung biopsy or necropsy examination by a pediatric pathologist with experience in this condition. The availability of genetic testing has led to increasing diagnosis of patients with this lethal disorder and can influence their management, specifically by indicating the need for lung biopsy in a critically ill newborn.

[D-lactic acidosis in an 11-year-old patient with short bowel syndrome]. / Acidosis D-láctica en un paciente de 11 años con síndrome de intestino corto.

The short bowel syndrome is the result of a congenital or acquired loss of a large part of the small intestine. The most frequent causes of surgical resection of the intestine in infants are arterial or venous thrombosis, intestinal volvulus, necrotizing enterocolitis, and Crohn's disease. Symptoms include nutrient and electrolyte malabsorption, steatorrhea and diarrhea, which can result in failure to thrive. The consequences of extensive small bowel resections consist of nutritional deficiencies, gastric acid hypersecretion, nephrolithiasis, cholelithiasis and lactic acidosis. Of these, D-lactic acidosis is an infrequent but important complication because of the symptoms that it can produce. D-lactic acid in the human organism is generated by intestinal bacteria, D-lactate ingestion, or endogenous production in the methyl glycoxylase pathway. Neurological symptoms such as somnolence, ataxia or altered behavior in a patient with short bowel syndrome should make us think of D-lactic acidosis caused by bacterial overgrowth. We present the case of an 11-year-old boy with short bowel syndrome secondary to multiple resections during the postnatal period who was admitted to hospital for episodes of confusion and altered behavior. The diagnosis was lactic acidosis. Outcome was favorable due to prompt instauration of treatment.

Acidosis D-láctica en un paciente de 11 años con síndrome de intestino corto / D-lactic acidosis in an 11-year-old patient with short bowel syndrome

El síndrome de intestino corto es el resultado de la pérdida congénita (atresia intestinal) o adquirida, de gran parte de intestino delgado. Las causas más frecuentes de resección intestinal en la infancia son patologías como la trombosis arterial o venosa, los vólvulos intestinales, la enterocolitis necrosante o la enfermedad de Crohn. Su clínica consiste en malabsorción de nutrientes y electrólitos, junto con esteatorrea y diarrea que dificultan el desarrollo ponderoestatural. Las consecuencias de las resecciones extensas del intestino delgado son deficiencias nutricionales, hipersecreción de ácido gástrico, nefrolitiasis, colelitiasis y acidosis láctica. Dentro de éstas, la acidosis láctica representa una complicación poco frecuente pero importante por la sintomatología que puede presentar. El ácido D-láctico en el organismo es generado por bacterias del tracto intestinal, por ingesta de D-lactato o por producción endógena en la vía de la metil glucosilasa. La sintomatología neurológica (somnolencia, ataxia, alteraciones de la conducta) en un paciente afectado de intestino corto debe hacer pensar en un posible cuadro de acidosis D-láctica secundaria a sobrecrecimiento bacteriano intestinal. Se presenta el caso de un paciente de 11 años de edad con síndrome de intestino corto por múltiples resecciones durante el período posnatal que ingresa por episodios de disminución del estado de conciencia y alteración de la conducta, llegando al diagnóstico de acidosis láctica. La evolución fue favorable debido a la rápida instauración del tratamiento

The short bowel syndrome is the result of a congenital or acquired loss of a large part of the small intestine. The most frequent causes of surgical resection of the intestine in infants are arterial or venous thrombosis, intestinal volvulus, necrotizing enterocolitis, and Crohn's disease. Symptoms include nutrient and electrolyte malabsorption, steatorrhea and diarrhea, which can result in failure to thrive. The consequences of extensive small bowel resections consist of nutritional deficiencies, gastric acid hypersecretion, nephrolithiasis, cholelithiasis and lactic acidosis. Of these, D-lactic acidosis is an infrequent but important complication because of the symptoms that it can produce. D-lactic acid in the human organism is generated by intestinal bacteria, D-lactate ingestion, or endogenous production in the methyl glycoxylase pathway. Neurological symptoms such as somnolence, ataxia or altered behavior in a patient with short bowel syndrome should make us think of D-lactic acidosis caused by bacterial overgrowth. We present the case of an 11-year-old boy with short bowel syndrome secondary to multiple resections during the postnatal period who was admitted to hospital for episodes of confusion and altered behavior. The diagnosis was lactic acidosis. Outcome was favorable due to prompt instauration of treatment