Importance of early endoscopic and clinical evaluation of children with caustics ingestion.

Background: Accidental ingestion of caustics in pediatrics continues to be a frequent problem that can lead to severe injuries and permanent sequelae that require esophageal rehabilitation programs. This study aimed to describe the medical care experience of children who ingested caustic substances in a tertiary hospital in Mexico City.

Methods: We conducted a descriptive and analytical study.

[Colestasis por deficiencia de 3b-Δ5-C27-hidroxiesteroide deshidrogenasa en un paciente con alteración en la síntesis de ácidos biliares].

IntroducciÓn: Los errores innatos en la síntesis de ácidos biliares son un grupo de defectos genéticos que representan del 1 al 2% de las enfermedades colestásicas crónicas en lactantes, niños y adolescentes. La deficiencia de 3b-Δ5-C27-hidroxiesteroide oxidoreductasa (3b-HSDH) es el defecto más comúnmente reportado. El cuadro clínico característico consiste en hepatitis neonatal, hepatomegalia, esplenomegalia, malabsorción, desnutrición y enfermedad hepática de aparición tardía.

[Acrodermatitis enteropathica].

Introduction: Acrodermatitis enteropathica is a low-incidence disease due to inherited or acquired zinc deficiency. It is characterized by acral dermatitis, alopecia, diarrhea and growth retardation. The dermatological condition may mimic a cutaneous fungal infection or other pathogen-related skin diseases.

[Autoimmune hepatitis in the pediatric age].

In pediatrics, autoimmune hepatitis and sclerosing cholangitis are liver disorders with an immunological damage mechanism. Autoimmune hepatitis is a disease of unknown etiology characterized by interface hepatitis, hypergammaglobulinemia, circulating autoantibodies and a favorable response to immunosuppression. It is an eminently pediatric disease with a prevalent condition in young women.

Novel LIPA mutations in Mexican siblings with lysosomal acid lipase deficiency.

Lysosomal acid lipase (LAL) deficiency is an under-recognized lysosomal disease caused by deficient enzymatic activity of LAL. In this report we describe two affected female Mexican siblings with early hepatic complications. At two months of age, the first sibling presented with alternating episodes of diarrhea and constipation, and later with hepatomegaly, elevated transaminases, high levels of total and low-density lipoprotein cholesterol, and low levels of high-density lipoprotein.