Non-familial visceral myopathy: clinical and pathologic features of degenerative leiomyopathy

 Degenerative leiomyopathy (DL) is a distinctive form of acquired degenerative visceral myopathy of uncertain etiology that occurs largely in Africa and results in intestinal pseudo-obstruction (IP). In this review of 39 patients from the Western Cape region of South Africa, the mean age at presentation was 9.5 years (range 6 months to 16 years). Characteristic clinical features included a chronic, insidious history of repeated attacks of abdominal distension, abdominal pain, and vomiting. Marked gaseous distension with atony and IP, especially of the colon, was noted on X-ray films. Megacolon was the most common radiologic feature, but pseudo-obstruction extended proximally into the small intestine in some patients with advanced disease. In the majority of cases the condition was progressive and eventually affected the entire gastrointestinal (GI) tract. Accepted: 6 June 2001     

儿科慢性假性肠梗阻研究进展

本综述介绍了小儿CIPO(慢性假性肠梗阻)的特点,总结了近几年来对于此类疾病最新的基础及临床研究,对本病的病因、临床特点、诊断及治疗方面做了详细的介绍.本文特别介绍了最新的国际权威病理诊断分类,指出此类肠道动力障碍性疾病的病因并不局限于肠道神经系统的病变,同时结合基因检测可得到较明确的病因诊断,而对指导临床治疗及预后有重要意义.     

Immune deficiencies in chronic intestinal pseudo-obstruction

Aim: Chronic intestinal pseudo-obstruction has been associated with urinary disorders, myopathy, and ophthalmoplegia in adults and cholelithiasis in children. We observed a high percentage of total-parenteral-nutrition-dependent patients with pseudo-obstruction and recurrent infections requiring gammaglobulin infusions. Methods: AH records for 23 children with chronic intestinal pseudo-obstruction (10 females and 13 males, mean age 9.8 y ± 4.9 y, range 4–24 y) referred for a nutritional evaluation from 1992 to 1995 were reviewed. Chronic intestinal pseudo-obstruction was diagnosed by clinical, radiographic findings and antroduodenal manometry. Intestinal full-thickness biopsies were performed in seven children. Results: Hypogammaglobulinemia was diagnosed in 18 patients (78%): 16 patients had various immunoglobulin deficiencies and 2 had selective antibody deficiency. Intravenous gammaglobulin was administered in 14 patients. Other medical conditions affecting the children are summarized as follows: autonomic dysfunction in 10 patients (43%), recurrent hypoglycemia in 9 (39%), asthma in 9 (39%), cholecystitis in 7 (30%), low serum carnitine level in 6 (26%), urinary dysfunction in 6 (26%), pancreatitis in 5 (22%), behavioral problems in 5 (22%), myopathy in 2 (9%), idiopathic thrombocytopenia in 2 (8%), velopharyngeal insufficiency in 1 (4%), oculocutaneous albinism in 1 (4%), Pierre-Robin syndrome in 1 (4%), and protein C deficiency in 1 (4%). Munchausen syndrome was suspected in two patients. Conclusions: Chronic intestinal pseudo-obstruction appears to be associated with immune deficiencies. It is unclear if the immune deficiencies, intestinal pseudo-obstruction, and the other medical conditions have a common underlying etiology. Repeated infections may be due to impaired immune function in children with chronic intestinal pseudo-obstruction. We recommend screening for immune deficiencies in children with chronic intestinal pseudo-obstruction.     

Imaging findings in megacystis-microcolon-intestinal hypoperistalsis syndrome

Megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS) is a rare and frequently lethal form of severe functional intestinal obstruction more commonly found in girls. Imaging features characteristic of this disease include a large dilated bladder, microcolon and intestinal dysmotility. Additional imaging findings may include intestinal malrotation, hydronephrosis and vesicoureteral reflux. It is usually fatal in the first year of life. Because presenting clinical and imaging features can mimic other causes of neonatal bowel obstruction, we compiled examples of this disorder to help the pediatric radiologist recognize imaging findings associated with MMIHS and aid in the development of a long-term management plan and in counseling the family regarding implications of this disorder. We reviewed recent and historical literature relevant to MMIHS and present the imaging and clinical features of four patients with MMIHS treated at our institution as examples of this uncommon disorder.     

Celiac disease as a cause for occlusion of the small intestine

We report the case of a 13 month old boy presenting with an intestinal pseudo-obstruction. He showed the clinical and radiological features typical of a paralytic intestinal occlusion. After 48 hours of parenteral nutrition, the intestinal motility returned to normal. A jejunal biopsy showed total villous atrophy. The patient did not relapse with the same symptoms on a gluten challenge. The differential diagnosis and the similarities with obstructive events in cow's milk protein sensitive enteropathy are discussed.     

A Case of Multiple Pterygium Syndrome Associated with Chronic Idiopathic Intestinal Pseudo-Obstruction Syndrome

Multiple pterygium syndrome (MPS) is a rare condition characterized by pterygia of the neck, finger, antecubital, popliteal, and intercrural areas. The present case study describes a male patient afflicted with this condition. This case has two unique features 1) the patient exhibited both mental and physical retardation at 2 years of age, a rare symptom of this disorder, and 2) the patient also had chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS). Although the pathogenesis of both MPS and CIIPS is unclear, some features of the present case suggest a possible pathogenic mechanism.     

Pediatric short bowel syndrome and subsequent development of inflammatory bowel disease: an illustrative case and literature review

Short bowel syndrome (SBS) in neonates is an uncommon but highly morbid condition. As SBS survival increases, physiologic complications become more apparent. Few reports in the literature elucidate outcomes for adults with a pediatric history of SBS. We present a case report of a patient, born with complicated gastroschisis resulting in SBS at birth, who subsequently developed symptoms and pathologic changes of inflammatory bowel disease (IBD) as an adult. The patient lived from age 7, after a Bianchi intestinal lengthening procedure, to age 34 independent of parenteral nutrition (PN), but requiring hydration fluid via G-tube. He was then diagnosed with IBD, after presenting with weight loss, diarrhea, and malabsorption, which required resumption of PN and infliximab treatment. This report adds to a small body of the literature which points to a connection between SBS in neonates and subsequent diagnosis of IBD. Recent evidence suggests that SBS and IBD have shared features of mucosal immune dysfunction and altered intestinal microbiota. We review current treatment options for pediatric SBS as well as multidisciplinary and coordinated transition strategies. We conclude that there may be an etiologic connection between SBS and IBD and that this knowledge may impact outcomes and approaches to care.     

Idiopathic myositis of the small intestine. An unusual cause of chronic intestinal pseudo-obstruction in children

The case reported concerns a child with chronic intestinal pseudo-obstruction (CIPO) whose digestive manifestations (intestinal adynamia and distension) were present from the age of 6 months and lasted, despite medical and surgical treatments until 4 years of age, when death occurred. The multiple samplings showed important inflammatory reactions centred on the muscular layers of the small intestine, together with degenerative lesions of the muscular fibres, progressively leading to fibrosis and atrophy of the intestinal wall with secondary and final impairment of the myenteric plexuses. The diagnosis of myositis of the small intestine is extremely rare. It is not part of the usual causes of intestinal adynamia and CIPO, which were reviewed. Hollow visceral myopathy and systemic sclerosis of the GI tract were more especially discussed. For lack of etiopathogenic convincing data and of similar observation in the literature, this case may be temporarily considered as an idiopathic myositis of the small intestine, a potentially new cause of CIPO.     

Hashitoxicosis in children: clinical features and natural history

OBJECTIVE: To determine the incidence, natural history, and clinical characteristics of Hashitoxicosis (Htx) in pediatric patients with autoimmune thyroiditis. STUDY DESIGN: Medical records of children diagnosed with Hashimoto thyroiditis between 1993 and 2002 were reviewed. The clinical course of patients presenting with hyperthyroidism was determined. Variables including sex, age, family history, thyroid hormone levels, anti-thyroid antibody titers, 123 I thyroid scan results, and presenting features were investigated as possible predisposing factors for the development of Htx. RESULTS: Out of 69 patients with autoimmune thyroiditis, 8 were diagnosed with Htx. The duration of hyperthyroidism ranged from 31 to 168 days. Three patients became hypothyroid after an average of 46.3 +/- 13.2 days, and 5 patients became euthyroid after an average of 112.8 +/- 59.8 days. Additional findings included an elevated thyroid stimulating immunoglobulin (TSI) titer in 3 of the 8 patients with Htx, and increased uptake on 123 I scan in 2 patients. CONCLUSION: Htx is an uncommon yet important cause of hyperthyroidism in children that has a variable clinical course. The diagnosis may be complicated, as presenting features sometimes exhibit significant overlap with Graves' disease. No factors predisposing to the development of Htx were identified.     

Recurrent pancreatitis in three patients with chronic idiopathic intestinal pseudo-obstruction

Chronic idiopathic intestinal pseudo-obstruction is a syndrome with substantial morbidity and mortality associated both with the syndrome and with its therapy. Standard therapy has included prokinetic agents and intravenous nutritional support when oral feedings are inadequate to maintain nutriture. We report three children with chronic intestinal pseudo-obstruction who experienced one or more attacks of pancreatitis. Two patients developed pseudocysts. One patient died. All three patients underwent cholecystectomy; one had stones, one had acalculous cholecystitis, and one had a normal gallbladder. All patients received prokinetic agents and total parenteral nutrition as therapy for their pseudo-obstruction. Candidate mechanisms to explain the etiology for pancreatitis in chronic intestinal pseudo-obstruction include biliary dysmotility associated with pseudo-obstruction and excessive cholinergic stimulation due to therapy with prokinetic agents.     

Unusual variations of gastrointestinal smooth muscle abnormalities associated with chronic intestinal pseudo-obstruction

The clinicopathological spectrum of gastrointestinal (GI) smooth-muscle abnormalities associated with chronic intestinal pseudo-obstruction (CIPO) includes numerous heterogeneous conditions that are often ill-defined and poorly understood. Primary GI smooth-muscle abnormalities include familial and sporadic forms. Secondary involvement of GI smooth-muscle may result from associated GI and systemic conditions, but is less frequent than in adults. This study documents the clinicopathological findings observed in 12 South African patients with unusual forms of visceral smooth-muscle abnormalities not conforming to the diagnostic criteria of known primary visceral myopathies at the Tygerberg and Red Cross Childrens' Hospitals over a 14-year period (July 1985 through January 1999). Congenital muscle defects occurred in 5 patients where layers of bowel-wall muscle were absent or attenuated. Idiopathic fibrosis and ultrastructural features of perinuclear and mitochondrial vacuolisation were noted in 2 patients. A 21-year-old female with long-standing pseudo-obstruction demonstrated diminished immunohistochemical expression of enteric alpha-smooth-muscle actin without associated muscular degeneration or fibrosis. A secondary complication of dermatomyositis (bowel perforation) occurred twice in 1 patient. In 3 further patients (1 each with anorectal malformation, long-segment Hirschsprung's disease, and intestinal neuronal dysplasia), muscle fibrosis appeared during progression of the pre-existing disease. Visceral myopathies are poorly understood conditions that may present with CIPO. Unusual variations occur that do not conform to the usual recognised histological patterns. Secondary involvement may also be more common than anticipated in children. The challenge to further understanding these uncommon conditions lies in timely diagnosis and identification of early, subtle signs. Optimal and extensive application of various diagnostic modalities, including the development of new diagnostic tools, is of considerable importance in identifying hitherto unexplained CIPO due to GI smooth-muscle abnormalities.     

Motility disorders. Diagnosis and treatment for the pediatric patient

Motility disorders are common in children and may affect any area of the GI tract. The past decade has brought significant advances in the understanding of motility disorders in pediatrics. More sophisticated testing techniques have helped to differentiate normal from abnormal motility in children of different ages. Manometry now may be used to clarify the pathophysiologic defect underlying chest pain, dysphagia, rumination, gastroparesis, chronic intestinal pseudo-obstruction, and colonic neuromuscular disorders. Motility testing also may be used to identify the motor defect responsible for persistence of symptoms after surgery for GER or HD. New investigational techniques and prokinetic agents likely to be available in the future also were discussed.     

Volvulus as a complication of chronic intestinal pseudo-obstruction syndrome

Chronic intestinal pseudo-obstruction syndrome (CIPS) is a severe motility disorder of the gastrointestinal tract that presents with continuous or recurrent symptoms and signs of intestinal obstruction without evidence of a structural lesion occluding the intestinal lumen. Mechanical obstruction might occur in these patients as well but is typically difficult to distinguish from an exacerbation of CIPS. We report two pediatric cases in which mechanical obstruction by volvulus mimicked an exacerbation of CIPS, requiring surgical intervention. Conclusion: Awareness of the possibility of true mechanical obstruction in CIPS patients during an exacerbation episode is needed, as this is a severe condition and usually requires surgical intervention.     

极早发型炎症性肠病的特点与治疗

炎症性肠病（IBD）是一种病因不明的慢性非特异性肠道炎症性疾病。该疾病包括3种主要类型：克罗恩病（CD）、溃疡性结肠炎（UC）和未分型IBD（IBD-U）。IBD在成人中发病率高，但近年来，IBD在儿童中发病率越来越高。极早发型IBD（VEO-IBD）是儿童IBD的一部分，有其独特的表型和遗传学特征，通常病情严重，并且对常规IBD治疗效果差。该文对VEO-IBD的临床特点、发病机制和治疗进行了综述。     

疑难病研究——遗传性巨十二指肠症

报道1例遗传性巨十二指肠症的病例,该病为一种以家族性空腔脏器肌病为特点的少见病,可能为常染色体显性遗传病。此病儿童发病罕见,临床表现为反复发作的假性消化道梗阻,以间断发生的呕吐、腹胀为主要症状,可造成营养障碍、发育迟缓。钡餐检查可见十二指肠扩张,食道测压显示食道蠕动功能受损。病理形态学上表现多样,可见肠壁的炎性浸润、平滑肌层变薄,纤维组织增生。确诊需结合家族史、病理检查及影像学和功能学检查方可作出。手术治疗可暂时缓解症状但无法治愈该病。     

Asthma,allergy, and sinopulmonary disease in pediatric condition falsification

Reports of pediatric condition falsification (PCF) have noted, but not emphasized, exaggerated complaints of real and common illnesses. Among the most frequent chronic childhood illnesses are asthma, allergy, drug sensitivity, and ear and sinopulmonary infections. The most common pediatric surgery is the insertion of myringotomy tubes. A computer database of 104 PCF victims from 68 families spanning from 1974 to 1998 was searched for the frequency of these conditions. Outright falsification or extreme exaggeration of severity of asthma or allergies was noted in 52 children (50%), sinopulmonary infections in 50 (48%), and drug reactions or sensitivities in 30 (29%). Forty-five children (43%) had otolaryngologic surgery, including ear tubes. In all, 71 children (68%) had at least one of these conditions. Associated victim and perpetrator characteristics are described. Children with PCF are not only subjected to induced illnesses and excessive medical diagnostic and therapeutic efforts but also victimized b) the consequences of false and exaggerated complaints of common pediatric diseases.     

儿童炎症性肠病治疗现状和进展

炎症性肠病是一种多因素的肠道慢性炎症性疾病,主要分为溃疡性结肠炎、克罗恩病和未定型炎症性肠病.炎症性肠病的发病率逐年增加,并且呈现低龄化的趋势,儿童炎症性肠病越来越普遍.由于儿童正处于生长发育较快的特殊时期,导致儿童炎症性肠病与成人在临床表现、疾病类型、治疗方案、并发症等问题上有很多不同.该文对炎症性肠病尤其是儿童炎症性肠病的治疗现状和进展进行阐述.     

Bleeding tendency as a first symptom in children with congenital biliary dilatation.

AIM OF THE STUDY: Although a bleeding tendency as a first symptom is a critical condition in congenital biliary dilatation (CBD), the clinical details of this symptom remain unclear. We assessed this condition in children with CBD in this paper. MATERIALS AND METHODS: Sixty-five children with CBD were treated at our institute between 1983 and 2004. The children, initially presenting with bleeding manifestations such as intracranial hemorrhage and bloody stools, were defined as the bleeding group, and the remaining children with digestive symptoms such as abdominal pain and vomiting were defined as the digestive group. The clinical features were compared between these two groups. RESULTS: In 6 of the 65 cases, bleeding manifestations were noted (9.2 %). All six had cystic-type choledochal dilatation. The mean age of the bleeding group was significantly younger than that of the digestive group, and bleeding was more frequent, especially in infants less than 12 months of age. In a laboratory study, the bleeding group showed a more prolonged blood coagulation time than the digestive group did. Serum amylase and lipase levels in the bleeding group were almost normal, while those in the digestive group were significantly higher. The direct bilirubin level in the bleeding group was significantly higher than that in the digestive group. CONCLUSIONS: Disturbed blood coagulation due to vitamin K deficiency related to cholestasis results in a bleeding tendency in children with CBD. Therefore, pediatric surgeons should be aware of this rare but critical condition which can be prevented by rapid and precise treatment with vitamin K supplementation.     

儿童炎症性肠病临床及结肠镜下特点分析

目的 探讨儿童炎症性肠病的临床特点,分析结肠镜及活组织学检查对疾病诊断的重要性.方法 研究在我院住院的34例炎症性肠病患儿的临床表现、实验室检查、结肠镜下特点及活检组织学特点,分析其诊断价值.其中克罗恩病(CD)10例,溃疡性结肠炎(UC)24例.结果 CD组中,轻-中度活动型4例,重度活动型6例.临床表现以腹痛多见(80%,8/10);并发症:肠穿孔1例,肠梗阻2例,肛瘘2例.UC组中,轻度5例,中度14例,重度5例.临床表现以腹泻为主(23/24,96%);肛周疾病3例,并发慢性肠套叠1例.CD组血沉、C反应蛋白水平较UC组高(X2=15.938、11.184,P均<0.01).10例CD中,小肠结肠型6例(60%),结肠型1例(10%),小肠捌3例(30%).结肠镜下表现有节段性分布、溃疡多样性、修复性改变、部分肠管狭窄僵硬等特点.24例UC中,全结肠累及者6例(25%),乙状结肠、直肠累及者14例(58%),左半结肠累及者7例(29%),结肠镜下表现为连续性黏膜充血水肿、糜烂,多发浅溃疡多见,溃疡多不规则,7例(29%)可见假息肉形成,黏膜桥未见.CD活检组织学均有淋巴细胞浸润,1例见裂隙状溃疡,2例见上皮性肉芽肿.UC活检标本均有多量中性粒细胞、淋巴细胞、浆细胞等炎性细胞浸润表现,其中4例(17%)见隐窝脓肿.结论 儿童炎症性肠病的临床特点具有非特异性,结肠镜结合组织活检对UC的诊断有可靠的价值.对于结肠型或小肠结肠型CD,结肠镜检查有重要意义,组织活检特异性不高,可多部位、深凿活检以提高阳性率,协助诊断.