Pediatric GIST presenting as anemia

Gastrointestinal stromal tumors (GIST) are tumors of the gastrointestinal (GI) tract originating from the myenteric ganglion cells (interstitial cells of Cajal), that are very rare in children and adolescents. The most common clinical manifestation is acute or chronic, overt or occult GI bleeding although these tumors are asymptomatic in 10–30% of patients. We report a case of gastric GIST in a 11-year-old girl presenting with an iron deficiency refractory anemia without gastrointestinal symptoms and stool evidence of GI bleeding that caused a slight diagnostic delay.     

Upper Gastrointestinal Bleeding

Upper gastrointestinal bleeding is a life threatening condition in children. Common sources of upper gastrointestinal bleeding in children include variceal hemorrhage (most commonly extra-hepatic portal venous obstruction in our settings) and mucosal lesions (gastric erosions and ulcers secondary to drug intake). While most gastrointestinal bleeding may not be life threatening, it is necessary to determine the source, degree and possible cause of the bleeding. A complete and thorough history and physical examination is therefore vital. Esophagogastroduodenoscopy and colonoscopy are currently considered the first-line diagnostic procedures of choice for upper and lower GI bleeding, respectively. The goals of therapy in a child with GI bleeding should involve hemodynamic resuscitation, cessation of bleeding from source and prevention of future episodes of GI bleeding. Antacids supplemented by H2- receptor antagonists and proton pump inhibitors are the mainstay in the treatment of bleeding from mucosal lesion. For variceal bleeds, therapeutic emergency endoscopy is the treatment of choice after initial hemodynamic stabilization of the patient. Independent prognostic factors are presence of shock and co-morbidities. Underlying diagnosis, coagulation disorder, failure to identify the bleeding site, anemia and excessive blood loss are other factors associated with poor prognosis.     

BUN/Cr ratio as an index of gastrointestinal bleeding mass in children.

Determining the site and severity of blood loss is important in the management of children with gastrointestinal (GI) bleeding. Blood urea nitrogen (BUN) and serum creatinine (Cr) were measured on the day of hospitalization and the ratio of BUN/Cr was calculated in 11 children with 16 episodes of upper GI bleeding and 49 with lower GI bleeding. There was a significant difference between the two GI bleeding groups with regard to BUN/Cr ratio (p less than 0.001). When the ratio was 30 or above, the specificity of upper GI bleeding was 98% with a sensitivity of 68.8%. A linear relationship was found between the BUN/Cr ratio and delta Hb (delta Hb = 0.08 x BUN/Cr +/- 0.8 g/dl) for bleeding originating from the upper GI tract. This study confirms that measurement of the BUN/Cr ratio is useful for localizing the source of bleeding to the upper GI tract and also demonstrates its usefulness as an estimation of the severity of blood loss from the upper GI tract.     

Ileal dysgenesis coexisting with multiple enteric duplication cysts in a child—MR enterography, CT, and Meckel scan appearances

There are numerous causes of iron deficiency anemia due to gastrointestinal tract bleeding in children. While a very thorough history may elucidate common etiologies, such as cow’s milk protein-induced colitis and nonsteroidal anti-inflammatory drug-related gastritis or peptic ulcer disease, other less frequent causes often present a diagnostic challenge. We present the MR enterography (MRE), CT and Meckel scan findings of ileal dysgenesis coexisting with multiple enteric duplication cysts in a young child who presented with chronic iron deficiency anemia, recurrent gastrointestinal tract bleeding and unexplained bowel perforation. In this case, MRE was able to identify and characterize each individual lesion and directly guide appropriate surgical management.     

Relationship between upper gastrointestinal bleeding and non steroidal anti-inflammatory drugs in children

The authors evaluated the relationship between drug intake and upper gastrointestinal (GI) bleeding. The endoscopic files of the previous 2 years were reviewed and the incidence and age and sex distribution recorded. GI bleeding is indication for a high percentage of lower endoscopies and a low percentage of upper endoscopies. On the other hand, although rarer upper GI bleeding is more severe and frequently related to drug ingestion. About 50% of cases showed gastric erosions secondary to drug intake. A relation between gastric bleeding and paracetamol is considered, as is the possibility of preventing secondary severe bleeding by pharmacologic gastric protection in children with risk factors such as chronic use of other drugs or portal hypertension.     

Blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome is a rare disorder characterized by distinctive cutaneous and gastrointestinal venous malformations that usually cause massive or occult gastrointestinal hemorrhage and iron deficiency anemia secondary to the bleeding episodes. It is even a rare cause of gastrointestinal hemorrhage during childhood. We describe a 6-year-old boy who had multiple venous malformations all over his body. He also suffered from several episodes of melena, chronic anemia, and growth retardation. The endoscopic examination of the gastrointestinal tract revealed multiple bluish-black sessile and polypoid venous malformations in various sizes. It was possible to remove the largest venous malformations causing massive bleeding during colonoscopy.     

Jejunal varices diagnosed by capsule endoscopy in patients with post‐liver transplant portal hypertension

Portal hypertension secondary to portal vein obstruction following liver transplant occurs in 5%‐10% of children. Jejunal varices are uncommon in this group. We present a case series of children with significant GI blood loss, negative upper endoscopy, and jejunal varices detected by CE. Case series of patients who had CE for chronic GI blood loss following liver transplantation. Three patients who had their initial transplants at a median age of 7 months were identified at our institution presenting at a median age of 8 years (range 7‐16 years) with a median Hgb of 2.8 g/dL (range 1.8‐6.8 g/dL). Upper endoscopy was negative for significant esophageal varices, gastric varices, and bleeding portal gastropathy in all three children. All three patients had significant jejunal varices noted on CE in mid‐jejunum. Jejunal varices were described as large prominent bluish vessels underneath visualized mucosa, one with evidence of recent bleeding. The results led to venoplasty of the portal vein in two patients and a decompressive shunt in one patient with resolution of GI bleed and anemia. CE is useful to diagnose intestinal varices in children with portal hypertension and GI bleeding following liver transplant.     

Gastrointestinal bleeding and paraparesis in blue rubber bleb nevus syndrome

Blue rubber bleb nevus syndrome (BRBNS), which consists of cutaneous and visceral hemangiomas, is a rare disease. Complications such as gastrointestinal (GI) bleeding, anemia and coagulopathy have been documented. We report a patient with BRBNS who presented with acute paraparesis in addition to GI bleeding and coagulopathy.     

Massive lower gastrointestinal hemorrhage caused by CMV disease as a presentation of HIV in an infant

The gastrointestinal (GI) manifestations of acquired immunodeficiency syndrome in children are related to opportunistic infections like cytomegalovirus (CMV). CMV disease of the GI tract is a major cause of morbidity and mortality in immunocompromised patients: it typically produces mucosal ulcerations that can result in pain, bleeding, diarrhea, and GI perforation, often around the cecum. Preoperative diagnosis may be difficult, plain films and barium enema are often nonspecific, and endoscopic evaluation is impossible when there is massive bleeding. The patient usually needs surgery to establish the correct diagnosis and initiate appropriate treatment. The use of gancyclovir for CMV disease in the postoperative period has improved the prognosis. Accepted: 26 April 1999     

Portal obstruction in children. I. Clinical investigation and hemorrhage risk

We examined 108 children with obstruction of the portal vein. Symptoms included splenomegaly and gastrointestinal tract hemorrhage. Obstruction was secondary to portal vein injury in 44 children and was combined with congenital malformations in 17 others. Ultrasonography provided the correct diagnosis in 36 of the 37 children in whom it was performed. Angiography, performed in 101 children, showed that the obstruction extended to the superior mesenteric vein in 14 children and to the entire portal venous system in seven; intrahepatic branches were involved in half the cases. Natural splenorenal shunts were visible in 19 children but were not clearly associated with a lower risk of gastrointestinal tract bleeding; in five of 30 children, cavography displayed abnormalities of the inferior vena cava. Spontaneous gastrointestinal tract hemorrhage occurred in 78 children. Fiberoptic endoscopy showed esophageal varices in 79 of the 81 children studied. The presence of tense varices and congestion of esophageal mucosa clearly augmented the risk of bleeding. These results suggest a simple method of investigation based on ultrasonography for diagnosis and on endoscopy for prognosis. Angiography should be limited to children with a history of gastrointestinal tract bleeding for whom a surgical portosystemic shunt is being considered.     

Clinical and molecular characteristics of pediatric gastrointestinal stromal tumors (GISTs)

BACKGROUND: To describe the clinical characteristics, molecular features, treatment, and outcome of six pediatric patients with gastrointestinal stromal tumors (GISTs). PATIENTS AND METHODS: Retrospective clinical review of GISTs, seen at The Hospital for Sick Children (HSC) Toronto, over an 11-year period. All specimens were stained for the CD 117 and CD 34 antigens. Three specimens were sequenced for mutations in exons 9, 11, and 13 of the c-kit gene. RESULTS: Five patients were evaluated and treated at HSC and one was referred for histopathological consultation only. The median patient age at diagnosis was 13.6 years, (6.9-14.8 years); four were female. All patients presented with anemia secondary to gastrointestinal (GI) bleeding. The disease was localized in five patients and two had other malignancies consistent with the diagnoses of Carney's triad. Immunohistochemical staining for CD 117 and CD 34 showed heavy cytoplasmic localization in all of the tumor cells. A novel point mutation of KIT in codon 456 of exon 9 was found in one case. Complete surgical resection was achieved in the five patients managed at our center and none received adjuvant therapies. Disease recurred locally in one patient. Four patients are alive and one is lost to follow-up. CONCLUSIONS: In children and adolescents, GISTs should be considered in the differential diagnosis of anemia secondary to GI hemorrhage. The absence of an exon 11 mutation and the identification of a novel mutation in exon 9 suggest that pediatric GISTs may respond differently to currently available targeted therapies and therefore should be studied within the context of collaborative group trials.     

西罗莫司治疗儿童蓝色橡皮疱痣综合征2例并文献复习

为探讨口服西罗莫司治疗儿童胃肠道蓝色橡皮疱痣综合征（BRBNS）的疗效,该文回顾性分析了2例BRBNS患儿的临床资料和使用西罗莫司治疗的随访结果。2例伴有消化道出血和贫血的BRBNS患儿,给予口服西罗莫司（初始剂量为1 mg/d）作为治疗方案的一部分,维持血药浓度在2.5~12.0 ng/mL之间,患儿消化道出血消失,贫血和凝血功能改善,治疗期间可停止输血且无明显药物不良反应。在PubMed、万方数据库、中国知网搜索西罗莫司治疗BRBNS的相关文献进行总结。检索文献结果显示,年龄为0~18岁的BRBNS儿童病例共检索出26例,加上该研究中报道的2例,共28例使用西罗莫司治疗均取得满意疗效。西罗莫司在儿童BRBNS患者的治疗中可能是有效和安全的,有待进一步的前瞻性研究来评估这种药物的长期疗效。     

Diagnostic red blood cell scintigraphy in GI tract bleeding from an intestinal hemangioma

99mTc-labeled red blood cell (RBC) scintigraphy in vivo established the diagnosis of intestinal hemangioma in a 6-year-old girl suffering from gastrointestinal (GI) tract bleeding who had undergone an operation for removal of hemangioma at the nail bed. Other examinations, double-contrast barium meal study and angiography, were unsuccessful in making the diagnosis. Intestinal hemangioma is rare in childhood, but a useful technique such as RBC scintigraphy should be performed to find the bleeding point of the GI tract, especially in case the patient has another obvious hemangioma.     

Crohn's disease lesions in the upper gastrointestinal tract: correlation between clinical, radiological, endoscopic, and histological features in adolescents and children

The incidence of Crohn's disease (CD) lesions in the upper gastrointestinal (GI) tract of both adults and children is frequently underestimated. In this prospective study, a total of 31 children suspected of having Crohn's disease were systematically examined to identify upper digestive tract lesions. They all underwent barium transit endoscopy with multiple-level biopsies. Typical clinical symptoms suggestive of upper GI tract involvement were found in 5 children (16%), radiological signs in only one child (3%), endoscopic lesions in 13 children (42%), and specific granulomas in 12 children (39%). In eight of these 12 children, the biopsies were taken from macroscopically normal areas of the esophagogastroduodenal mucosa. One of the 31 children had no abnormal radiological and endoscopic features suggestive of CD on the distal small bowel and the colon. There was no correlation between the clinical, radiological, and histological data. Endoscopy plus biopsy provided a positive diagnosis in 39% of cases and a confirmation of the diagnosis in 87% of cases. Endoscopic and histological evidence of CD of the upper GI tract is often present despite an absence of clinical symptoms or radiological changes. Upper GI tract endoscopy with multiple biopsies may be important in the evaluation of this condition and even in some cases for the establishment of the diagnosis.     

西罗莫司治疗儿童蓝色橡皮疱痣综合征2例并文献复习

为探讨口服西罗莫司治疗儿童胃肠道蓝色橡皮疱痣综合征（BRBNS）的疗效,该文回顾性分析了2例BRBNS患儿的临床资料和使用西罗莫司治疗的随访结果。2例伴有消化道出血和贫血的BRBNS患儿,给予口服西罗莫司（初始剂量为1 mg/d）作为治疗方案的一部分,维持血药浓度在2.5~12.0 ng/mL之间,患儿消化道出血消失,贫血和凝血功能改善,治疗期间可停止输血且无明显药物不良反应。在PubMed、万方数据库、中国知网搜索西罗莫司治疗BRBNS的相关文献进行总结。检索文献结果显示,年龄为0~18岁的BRBNS儿童病例共检索出26例,加上该研究中报道的2例,共28例使用西罗莫司治疗均取得满意疗效。西罗莫司在儿童BRBNS患者的治疗中可能是有效和安全的,有待进一步的前瞻性研究来评估这种药物的长期疗效。     

Unexpected result in the etiological approaching to an anemic case: a leech infestation

One of the causes of the childhood anemia is gastrointestinal system bleeding, which rarely results from parasites. The authors report on a 3-year-old boy with severe anemia and a history of hematemesis. While they were investigating the cause of the anemia and the hematemesis, a leech showing itself in the nasal passage led to a quick and exact treatment. Leeches should be considered for differential diagnosis of anemia and gastrointestinal system bleeding in the children.     

Unexpected Result in the Etiological Approaching to an Anemic Case: A Leech Infestation

One of the causes of the childhood anemia is gastrointestinal system bleeding, which rarely results from parasites. The authors report on a 3-year-old boy with severe anemia and a history of hematemesis. While they were investigating the cause of the anemia and the hematemesis, a leech showing itself in the nasal passage led to a quick and exact treatment. Leeches should be considered for differential diagnosis of anemia and gastrointestinal system bleeding in the children.     

Gastrointestinal tract imaging in children: current techniques

Imaging of the gastrointestinal (GI) tract in children continues to evolve, with new techniques, both radiological and non-radiological, being added to the repertoire. This article provides a summary of current imaging techniques of the GI tract (primarily the upper GI tract) and the relationship between those techniques. It covers the upper GI series and other contrast studies, US, CT and MRI. Note is also made of the contribution now made by capsule endoscopy (CE). Abdominal emergency imaging is not covered in this article.     

儿童消化道出血的原因与应急治疗

消化道出血是危害儿童生命健康的急症,其出血原因众多,并随年龄而不同,需要合理诊断和治疗.患儿临床表现从无症状性贫血到失血性休克变化多样,因此,救治的关键是对患儿先进行快速评估、稳定和复苏,然后再做病因诊断及治疗.     

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??The causes of upper gastrointestinal bleeding in children are numerous and vary with age. According to hemorrhagic causes and pathogenesis??upper gastrointestinal bleeding can be classified into two categories??nonvariceal and variceal. The clinical presentation of gastrointestinal bleeding in children ranges from asymptomatic microcytic anemia to hypovolemic shock. Because of the relatively small blood volume and poor blood loss tolerance of children??even a small amount of bleeding is prone to serious complications??so reasonable diagnosis and treatment are necessary. Endoscopic examination can enable us to make diagnoses and perform hemostasis treatment for children?? which has the advantages of being simple??with little trauma and quick effect. With the development of endoscopic technology??the surgery rate and fatality rate of upper gastrointestinal bleeding have significantly decreased.