Síndrome de "nevo em bolha de borracha azul"

The blue rubber nevus syndrome consists of multiple venous malformations in the skin and gastrointestinal tract associated with intestinal hemorrhage and iron deficiency anemia. Other organs may be involved. The causes of this syndrome are unknown. Its most common presentation is in the form of sporadic cases, but dominant autosomal inheritance has been described. It is a condition that affects both sexes equally, and its occurrence is rare in the black race. We present a case of this syndrome diagnosed in a 11-year-old patient. He had severe anemia and a venous swelling on the trunk. Similar lesions were found in the stomach, bowel, and on his foot. We emphasize the main clinical aspects: intestine, eyes, nasopharynx, parotids, lungs, liver, spleen, heart, brain, pleura, peritoneum, pericardium, skeletal muscles, bladder, and penis lesions, systemic complications that may occur to these patients which are thrombosis and calcification, as well as consumptive coagulopathy and thrombocytopenia that may occur within the nevi.A síndrome do nevo em bolha de borracha azul "blue rubber bled nevus syndrome" é caracterizada por malformações venosas da pele e trato gastrointestinal, associadas a hemorragia intestinal e anemia ferropriva. Outros órgãos podem estar envolvidos. As causas desta síndrome são desconhecidas e sua apresentação mais comum é na forma de casos esporádicos, mas herança autossômica dominante já foi descrita. É uma condição que afeta igualmente ambos os sexos e sua ocorrência é rara na raça negra. Apresentamos um caso desta síndrome diagnosticada em criança de onze anos de idade. Ela apresenta anemia grave e tumoração venosa do tronco. Lesões semelhantes foram encontradas no estômago, intestino e um dos pés. São enfatizados os aspectos clínicos principais - lesões no intestino, olhos, nasofaringe, parótida, pulmões, fígado, baço, coração, cérebro, pleura, peritônio, pericárdio, músculo esquelético, bexiga e pênis - e complicações sistêmicas que podem ocorrer nestes pacientes - trombose e calcificação dos nevus, assim como coagulopatia de consumo e trombocitopenia

EXPERIENCE IN THE EVALUATION OF CHILDREN WITH HEPATOSPLENOMEGALY AT A TEACHING AMBULATORY, SÃO PAULO, BRAZIL

Objectives: Describe cases of children with hepatosplenomegaly (HS) attended at the General Pediatric Teaching Ambulatory (AGER) of Instituto da Criança, São Paulo, identifying the main causes, evolution, necessity for hospitalization and/or referral to specialists. Methodology: Retrospective analysis of the records of children presenting HS on admission at AGER from September 1, 1993 to August 31, 1996. Results: Of the 89 children included (age range, 1 to 148 months; median, 24 months), 64 (72%) were referred from other services for HS investigation. Most common presenting complaints were: fever - 39 (44%); pallor - 26 (29%); weight loss - 21 (24%) and jaundice - 14 (16%). Main alterations noticed on physical examination were: pallor - 47 (53%) and short stature - 17 (19%). Anemia was diagnosed in 70 children (79%); 35 children (39%) had infections; 7 (8%) metabolic disorders and 5 (6%) neoplastic disorders. The most frequent infections were of the urinary tract - 9 (10%) and hepatitis A - 6 (7%).Thirty six children (40%) were referred to specialists, 17 of which were already diagnosed. Conclusions: Most of the children with HS present deficiency anemia associated with infections which the general pediatrician is able to diagnose. Persistence of unexplained HS for more than 2 months, especially when there is substantial volume enlargement or alteration in the organs consistency, is an indication for referral to specialists