Congenital microvillus atrophy in a 4-month-old girl

Congenital microvillus atrophy is a severe generalized enteropathy with ultrastructural abnormalities of the intestinal brush border. It is a rather new clinicopathological entity which needs to be differentiated from other enteropathies within the spectrum of intractable diarrhea of infancy. The presented case was a four-month-old girl with a chronic, intractable diarrhea, beginning at birth. The diagnosis was established only after the electron microscopic examination of small intestinal mucosa which revealed the characteristic features of the disease. Congenital microvillus atrophy is a rare autosomal recessively inherited disorder and bowel transplantation becomes a realistic option of treatment. Therefore, it should be specifically considered in the differential diagnosis of chronic intractable diarrhea of infancy.     

Soy protein intolerance: four patients with concomitant cow's milk intolerance

An infrequently encountered and poorly understood infantile disorder is gastrointestinal soy protein intolerance. Four patients who had intractable diarrhea of infancy and who failed to thrive were tested by oral challenge with soy protein isolate and were found to have soy protein intolerance. All four exhibited concomitant sensitivity to cow's milk protein. The response to challenge with soy protein included diarrhea, vomiting, hypotension, lethargy, and fever. These symptoms were immediate, of short duration, and occurred with each subsequent challenge dose. No patient exhibited cutaneous, pulmonary, or hematologic evidence of allergy although it was prominent in their families. A diet devoid of intact soy and cow's milk protein allowed symptomatic recovery and rapid weight gain. Oral disodium cromoglycate therapy was ineffective in one trial. Soy protein intolerance should be suspected in infants with diarrhea resistant to therapy with soy based formulas.     

Idiopathic colitis following cardiac transplantation: three pediatric cases

Colitis can cause significant morbidity in pediatric solid organ transplant recipients. In many cases, despite intensive evaluation, a specific infectious, inflammatory, or immunologic etiology is not identified, and idiopathic colitis may be the ultimate diagnosis. We defined idiopathic colitis as the presence of gastrointestinal symptoms (vomiting, diarrhea, abdominal pain) with inflammatory changes seen on intestinal biopsy in the absence of identifiable bowel disease. We describe three cases of idiopathic colitis following cardiac transplantation. In each case, the post-transplant course was complicated by persistent abdominal pain, diarrhea, and in two cases, vomiting. All three patients' post-transplant courses were marked by multiple graft rejection episodes, and all received intensified immune therapy in addition to usual maintenance immunosuppression. Differential diagnosis of the patients' gastrointestinal symptoms included drug side effect, indolent opportunistic infections, inflammatory bowel disease, post-transplant lymphoproliferative disease, and microvascular ischemic colitis. Continued symptoms led these patients to extensive evaluation including imaging studies, endoscopy and tissue biopsy, and stool, blood and tissue cultures for viral, bacterial and parasitic pathogens. Definitive differentiation presented significant diagnostic challenge, and once identifiable etiologies were excluded, the diagnosis of idiopathic colitis was assigned. We conclude that idiopathic colitis following pediatric cardiac transplantation can be a cause of significant morbidity. Endoscopic evaluation of patients who present with gastrointestinal symptoms after transplant is warranted to identify the presence of idiopathic colitis once common causes are ruled out. Further study is needed to identify its incidence, etiology, therapeutic options and prognosis.     

Collagenous sprue in a 3‐month‐old infant

Collagenous sprue (CS) is a severe malabsorption disorder, the etiology of which has not been well defined. Herein, we report the case of a 3‐month‐old infant with CS who responded to steroid and immunomodulator treatment and presented a thick subepithelial collagen band. A 3‐month‐old Japanese girl presented with severe watery diarrhea that lasted for 2 weeks. She was admitted to the referring hospital, but symptomatic improvement was not achieved with fasting and rehydration. Gastroduodenal endoscopy showed an edematous duodenal mucosal surface. Duodenal biopsy indicated severe villous atrophy with infiltration of mostly CD8‐positive T cells; and deposition of subepithelial collagen was confirmed. The subepithelial collagen deposits, however, had disappeared after treatment. Historically, child‐onset CS is extremely rare and this case is likely to be the youngest case of infantile CS. The present case suggests that CS should be considered as a differential diagnosis for intractable diarrhea, even in infants.     

Hyperinsulinemic hypoglycemia as a presenting sign in phosphomannose isomerase deficiency: A new manifestation of carbohydrate-deficient glycoprotein syndrome treatable with mannose.

We report the case of a patient with carbohydrate-deficient glycoprotein syndrome type Ib who developed normally until 3 months of age, when she was referred to the hospital for evaluation of hypoglycemia that was found to be related to hyperinsulinism. She also had vomiting episodes, hepatomegaly, and intractable diarrhea, which evoked the diagnosis of carbohydrate-deficient glycoprotein syndrome. Oral mannose treatment at a dose of 0.17 g/kg body weight 6 times/d was followed by a clinical improvement and normalization of blood glucose, aminotransferases, and coagulation factor levels. Hyperinsulinemic hypoglycemia should be considered as a leading sign of carbohydrate-deficient glycoprotein syndrome type Ib, especially when it is associated with enteropathy and abnormal liver tests.     

Eosinophilic enteritis due to cow's milk allergy: Possible cause of anastomosis failure following repair of focal intestinal perforation

Reports of cow's milk allergy (CMA) after neonatal gastrointestinal surgery have recently increased. In recent years it has been suggested that the development of CMA after gastrointestinal surgery in newborn infants is due to an immune function. In addition, the development of CMA might be synergistically exacerbated by congenital abnormalities of the intestinal mucosa, general conditional changes and local damage to the intestine by invasive surgery, and poor pre‐ or post‐surgical nutrition. CMA manifests as a variety of symptoms, such as mild vomiting and bloody stool, decreased activity, poor oral intake, and ileus. CMA may also rarely cause gastrointestinal perforation. Here, we report the case of a newborn infant who developed CMA following repair of focal small intestinal perforation, in which eosinophilic enteritis was suspected to be a possible cause of anastomosis leakage.     

腹型过敏性紫癜患儿的临床、内镜及病理学特点

目的研究腹型过敏性紫癜患儿的临床表现、内镜及病理学特点,以提高对腹型过敏性紫癜的诊断水平。方法以浙江大学医学院附属儿童医院2002年1月-2007年5月住院的57例行上消化道内镜检查时未出现皮肤紫癜患儿为研究对象,回顾性分析腹型过敏性紫癜患儿的临床、内镜及病理学资料。结果消化道症状主要为腹痛46例（80．7％）、呕吐32例（56．1％）、便血11例（19．3％）、腹泻4例（7．0％）、腹胀1例（1．8％）;同时伴关节肿痛3例（5．3％）。实验室检查主要为外周血白细胞增高（33例,57．9％）,1／5左右的病例出现C反应蛋白升高、白蛋白降低或腹腔积液情况。内镜下主要表现37例为略高出黏膜的点状出血和淤斑或成片状（64．9％）,14例出现糜烂或多发溃疡伴出血（24．6％）,4例颗粒状或结节状增生（7．0％）,弥漫性出血2例（3．5％）。病变在十二指肠降段出现率最高且最严重（55例,96．5％）,其次为十二指肠球部（32例,56．1％）、胃（18例,31．6％）,食道较少（1例,1．8％）。组织病理学呈毛细血管炎表现,3例（5．3％）的患儿同时伴幽门螺杆菌感染。49例（86．0％）患儿在内镜检查后1～7d内出现皮肤紫癜,8例至出院未出现皮肤紫癜,其中2例失访,6例（10．5％）随访至今（1～5年）未见皮肤紫癜。结论十二指肠降部病变在腹型过敏性紫癜极其常见,上消化道内镜检查对腹型过敏性紫癜有极高的诊断价值。     

Propionic acidemia with myelination disorders of the CNS

Clinical course and special diagnostic procedures in a 7 1/2 weeks old dystrophic infant with propionic acidemia are described. The disorder manifested with vomiting and diarrhea within the first week of life when the child was on a cow milk formula. Parenteral nutrition with glucose and electrolytes led to improvement. When oral nutrition with a cow milk formula was implemented again, an acute deterioration with diarrhoea and vomiting occurred. Thus, a diagnosis of cow milk allergy was suggested. There was also a severe muscular hypotony. Oral nutrition with a soybean formula did not prevent further clinical deterioration. At 7 1/2 weeks of age the patient died with symptoms of cardiogenic shock. The correct diagnosis was considered too late and confirmed post mortem. Clinical symptoms in the neonatal period like vomiting, muscular hypotony and failure to thrive should alert the physician to a possible diagnosis of a hereditary organic aciduria. Gas chromatography-mass spectrometry of urinary organics acids, in the present case, established the diagnosis. On autopsy, spongy degenerations were found in CNS.     

Rare clinical presentation mode of intestinal malrotation after neonatal period: Malabsorption-like symptoms due to chronic midgut volvulus

BACKGROUND: Many different and non-specific clinic presentation modes of malrotation anomalies (MA) have been reported after neonatal period. The authors describe four children with MA presented with malabsorption-like clinical features. METHODS: Three children aged from 8 months to 7 years, with a history of long-standing diarrhea and failure to thrive attributed to malabsorption, were referred to Department of Pediatric Surgery, for evaluation of suspected MA. Another patient, a 10-year-old boy who was treated for malabsorption for 6 years, presented with acute duodenal obstruction findings. The duration of symptoms averaged 35 months, ranging 8 months to 6 years. All patients had undergone extensive evaluation and empiric trials of different formulas with no improvement in their symptoms. One underwent jejunal biopsy. RESULTS: Primary presentation complaints were chronic diarrhea and failure to thrive in three patients. Their histories revealed chronic (in one) and intermittent colicky (in two) abdominal pain, and intermittent nonbilious vomiting (in three). The remaining patient presented with acute illness, with chronic diarrhea, failure to thrive, and intermittent abdominal pain and vomiting on his history. They were below 30th percentile according to body weight and height. Laboratory studies revealed hypoproteinemia, hypoalbunemia, raised liver function tests, and anemia in all patients. The patient who presented acutely had double-bubble sign on the plain abdominal film obtained at admission. In the other three, plain films obtained during an attack of abdominal pain and/or vomiting revealed findings of partial intestinal obstruction. The diagnosis was confirmed by upper gastrointestinal series. At their laparotomy, a classical type of malrotation with circumstantial evidence of chronic volvulus was noted. All patients had normal laboratory values between postoperative 3 and 5 weeks, and they were up to 30th percentile at the end of the 6 months. CONCLUSIONS: Malrotation anomalies should be included in the differential diagnosis in a child presented with malabsorption-like clinical features.     

Association of Celiac Disease With Idiopathic Pulmonary Hemosiderosis; Lane Hamilton Syndrome

Introduction:

Idiopathic Pulmonary Hemosiderosis (IPH) is a rare cause of alveolar hemorrhage, which is seen primarily in childhood. Celiac disease is defined as a chronic, immune-mediated enteropathy of the small intestine, caused by exposure to dietary gluten in genetically pre-disposed individuals. Association of IPH and celiac disease is known as Lane Hamilton syndrome. There are limited number of case reports of this syndrome in literature.

Case Presentation:

Although there were no growth and developmental delay and gastrointestinal symptoms like chronic diarrhea, chronic constipation, vomiting, abdominal bloating and pain in the two patients with IPH, they were diagnosed with Lane Hamilton Syndrome. After initiation of gluten-free diet, their IPH symptoms disappeared and hemoglobin levels were observed to return to normal.

Conclusions:

Even if there were no gastrointestinal symptoms in a patient with IPH, celiac disease should be investigated. These patients may benefit from gluten free diet and IPH symptoms may disappear.     

Malrotation and volvulus in infancy and childhood

The subject of malrotation and midgut volvulus in infancy and childhood is reviewed from the perspective of experience with 138 patients evaluated in a published series and a further 82 cases seen since. Embryology, historical aspects, clinical presentation, investigation, surgery, and outcome are discussed. The diagnosis of malrotation and volvulus should always be kept in mind when assessing any infant or child with symptoms of vomiting and pain, particularly when the vomiting is bile-stained. The diagnosis cannot be excluded if diarrhea is present, when clinical findings are bland, or even with normal abdominal radiographs. A contrast meal and follow-through should be done and, if correctly interpreted, should be diagnostic. Ultrasound examination may be helpful but is not secure enough to exclude the diagnosis. Laparotomy or laparoscopy is the only way to be sure. Malrotation with its propensity for volvulus is truly a time bomb lying within.     

Clostridium difficile-associated diarrhea in a pediatric hospital

This retrospective cohort analysis examined the risk factors, symptoms, and severity of disease associated with C. difficile in pediatric inpatients. Risk factors for a C. difficile-positive test were an oncologic diagnosis, diarrhea of more than 2 days' duration, and gastrointestinal symptoms, especially abdominal pain. Over a 3.5-year period, there was a total of 22 C. difficile-positive patients, and most had mild, self-limiting diarrheal illness. No cases of C. difficile diarrhea were identified. Seventy-eight percent of the C. difficile-positive patients were found to have alternate risk factors for diarrhea. Our data indicate that C. difficile rarely causes severe diarrhea in pediatric inpatients and that C. difficile testing should be limited to patients with severe prolonged diarrhea and abdominal pain.     

Pseudouchyłek powikłaniem długotrwałego zalegania ciała obcego w przełyku u 5,5-rocznego chłopca

We present a case of a 5.5-year-old boy with complications after long-term retention of a foreign body in the esophagus. The patient presented certain symptoms such as dysphagia, odynophagia, cough and vomiting. The case mentioned above proves that in children with chronic respiratory symptoms (such as cough, stridor) or gastrointestinal ones (dysphagia, odynophagia) the possibility of foreign body ingestion should always be considered as the cause of these complaints.     

The VIP-secreting tumor as a differential diagnosis of protracted diarrhea in pediatrics

BACKGROUND: Vasoactive intestinal peptide (VIP) can be produced by mature neurogenic tumors. Pathologically elevated VIP plasma levels cause secretory diarrhea with excessive loss of water and electrolytes. Despite the clinical severity diagnosis of a VIP-secreting tumor is often delayed and subsequently its extirpation as the mainstay of therapy. PATIENTS: We report on two patients with ganglioneuroblastoma and secretory diarrhea. We contrast the case of a 13-month-old boy with advanced symptoms of secretory diarrhea, high VIP plasma levels, and late diagnosis to the case of a 14-month-old boy with mild secretory diarrhea and normal VIP plasma levels but positive proof of VIP in tumor tissue. Reviewing the literature we found 57 cases of pediatric VIP-secreting tumors. RESULTS: The clinical situation is characterized by the typical symptoms of secretory diarrhea with hypokalemia and metabolic acidosis. Histopathology predominantly reveals ganglioneuroblastoma or ganglioneuroma. The symptoms mostly stop after complete resection of the tumor whereas lack of resection is associated with elevated mortality rates. CONCLUSIONS: In case of prolonged therapy-resistant secretory diarrhea the existence of a VIP-secreting tumor should be considered. Diagnostic work-up should include the assessment of VIP plasma levels, catecholamines in urine, and appropriate imaging techniques in order to rule out or confirm the possibility of a VIP producing tumor.     

深部真菌在儿童消化道的定植与感染

目的 了解儿童消化道深部真菌感染的临床特点,避免临床误诊及漏诊.方法 回顾性分析总结自2005年1月至2016年5月在广州市妇女儿童医疗中心消化科住院治疗,确诊为儿童消化道深部真菌感染患儿的临床特征及治疗效果.结果 总计确诊为消化道深部真菌感染6例,所有患儿均出现真菌性食管炎,其中合并真菌性胃肠病2例.主要临床表现为呕吐、喂养或进食困难.其中2例患儿伴有间歇性胸痛、腹痛.病程4~12周.起病前应用广谱抗生素1例;诊断先天性免疫缺陷1例;因先天性食管闭锁经历手术治疗3例.食管造影均提示食管狭窄.胃镜检查均出现食管黏膜损伤,散在成簇的灰白色斑点或豆腐渣样附着物3例,食管全周被灰白色豆腐渣样物覆盖,范围1/3~1/2食管全长,伴有食管腔堵塞3例.多发巨大的浅表溃疡2例.病变累及胃、十二指肠2例,其中1例累及范围自口腔至肛门整个消化道.6例患儿经黏膜病理检查或分泌物涂片检查确定为白色念珠菌感染.3例轻症患儿选择制霉素片口服,疗程2~3周.3例重症患儿予伊曲康唑口服,疗程3~4周.胃镜复查见食管、胃、十二指肠黏膜光滑,食管溃疡表面未见附着物.1例患儿结肠及末端回肠黏膜豆腐渣样附着物及溃疡明显减少.4例临床痊愈,1例确诊免疫缺陷病,因肺部感染死亡;1例全消化道感染者,3月后复发,目前仍在随诊中.结论 儿童消化道深部真菌感染主要表现为反复呕吐,进食困难及腹痛,病变范围可累及食管以至全消化道.食管黏膜损伤可能是诱因之一,同时应注意排除先天性免疫缺陷.确诊依赖于消化内镜检查、黏膜活检.抗真菌治疗有效.     

Systemic capillary leak syndrome presenting as recurrent shock.

OBJECTIVE: To report a case of systemic capillary leak syndrome (SCLS) in a child. DESIGN: Case report. SETTING: Pediatric intensive care unit. PATIENT: A 6-yr-old girl was admitted twice to the pediatric intensive care unit, at a 10-month interval, in severe shock with important edema. RESULTS: The patient presented with acute symptoms of abdominal pain, vomiting, and syncope in the hour preceding the shock. During both episodes necessary management included aggressive intravenous fluid rehydration, mechanical ventilation, and use of inotropes/vasopressors. Suspicion of a lower limb fasciitis necessitated surgical exploration, but pathology reports were negative on both occasions revealing only subcutaneous tissue edema. The patient recovered within 24 hrs on both episodes. Investigation ruled out cardiogenic shock and septic shock due to bacterial etiology. On the first episode, a nasopharyngeal aspirate was positive for influenza A (H3N2) by both viral immunofluorescence and culture. The presumed diagnosis was toxic shock syndrome associated with influenza virus. On the second episode, all bacterial and virology cultures remained negative. Hypovolemic shock was suspected, but there was no history of dehydration, bleeding, or gastrointestinal losses (persistent vomiting or diarrhea). Noninfectious causes of hypovolemic shock with edema were ruled out, leading us to believe that she suffered from SCLS. CONCLUSIONS: Although well described in the adult literature, there have been few reports of SCLS in pediatric patients. SCLS should be considered in the differential diagnosis of recurrent hypovolemic shock without identifiable cause. The only therapeutic intervention is to obtain vascular access when initial manifestations occur and give aggressive fluid reanimation.     

Rice protein‐induced enterocolitis syndrome with transient specific IgE to boiled rice but not to retort‐processed rice

Described herein is the case of an 8‐month‐old girl with atypical food protein‐induced enterocolitis syndrome due to rice. She presented with vomiting and poor general activity 2 h after ingestion of boiled rice. Oral food challenge test using high‐pressure retort‐processed rice was negative, but re‐exposure to boiled rice elicited gastrointestinal symptoms. On western blot analysis the patient's serum was found to contain IgE bound to crude protein extracts from rice seed or boiled rice, but not from retort‐processed rice. The major protein bands were not detected in the electrophoresed gel of retort‐processed rice extracts, suggesting decomposition by high‐temperature and high‐pressure processing. Oral food challenge for diagnosing rice allergy should be performed with boiled rice to avoid a false negative. Additionally, some patients with rice allergy might be able to ingest retort‐processed rice as a substitute for boiled rice.     

Food entrapped in papilla of Vater: uncommon cause of vomiting.

CASE REPORT: A 20 month old girl was admitted for intractable vomiting over several days, with no other symptoms. Family and personal history were not contributive. Clinical and neurological examination, and routine blood tests and investigations (plain abdominal x ray, upper gastrointestinal tract contrast study, abdominal ultrasonography) were normal. The upper gastrointestinal endoscopy showed a mild antral gastritis and the second portion of duodenum was occupied by a tough, fibrous mass partially embedded into the papilla of Vater. The foreign body was removed and proved to be vegetable fibre (pineapple). Symptoms subsided immediately and the child was discharged with gastroprotective therapy. After two months, on endoscopic examination, the signs of gastropathy had cleared; the papilla of Vater was undamaged, but unchomped food debris was again found in the duodenum. DISCUSSION: There are sporadic reports of foreign bodies retained into the papilla of Vater, all of them in adults. This child, though her papilla was tiny, had no jaundice or pancreatitis, unlike most of the reported cases. This is the first report of this finding in a child. The cause of the vomiting was not shown on abdominal ultrasonography or contrast study. It should be added to the list of unusual causes of vomiting.     

Food entrapped in papilla of Vater: uncommon cause of vomiting

CASE REPORT: A 20 month old girl was admitted for intractable vomiting over several days, with no other symptoms. Family and personal history were not contributive. Clinical and neurological examination, and routine blood tests and investigations (plain abdominal x ray, upper gastrointestinal tract contrast study, abdominal ultrasonography) were normal. The upper gastrointestinal endoscopy showed a mild antral gastritis and the second portion of duodenum was occupied by a tough, fibrous mass partially embedded into the papilla of Vater. The foreign body was removed and proved to be vegetable fibre (pineapple). Symptoms subsided immediately and the child was discharged with gastroprotective therapy. After two months, on endoscopic examination, the signs of gastropathy had cleared; the papilla of Vater was undamaged, but unchomped food debris was again found in the duodenum. DISCUSSION: There are sporadic reports of foreign bodies retained into the papilla of Vater, all of them in adults. This child, though her papilla was tiny, had no jaundice or pancreatitis, unlike most of the reported cases. This is the first report of this finding in a child. The cause of the vomiting was not shown on abdominal ultrasonography or contrast study. It should be added to the list of unusual causes of vomiting.     

Seizure and altered mental status in a 12-year-old child with Shigella sonnei gastroenteritis

We report a case of Shigella-associated altered mental status and seizure in a 12-year-old boy. Although seizure is a known complication of shigellosis, it is quite unusual in patients older than 9 years. This case illustrates the importance of considering the diagnosis of shigellosis in any pediatric patient with altered mental status or seizure in the context of gastrointestinal symptoms such as diarrhea.