Microscopic colitis: a new cause of chronic diarrhea in children?

From a retrospective study on children who underwent colonoscopy or rectosigmoidoscopy with multiple level biopsies, we selected five patients whose rectocolonic endoscopic aspect was normal and contrasting with the presence of a microscopic colitis on biopsies. These five children had chronic diarrhea (mean duration of 14 months), associated with vomiting (three cases), abdominal pain (two cases), anorexia (two cases), abdominal distension (two cases), and weight loss (four cases). Symptomatic treatment was used in all children: loperamide (one case), trimebutine (three cases), and aluminium and magnesium silicate (two cases). One child received sulfasalazine for 2 months. After 1 year, all patients had normal stools. Rectosigmoidoscopy was performed in four patients and was normal. Biopsies obtained in three cases were normal in two cases and showed a persistent microscopic colitis in one case. Microscopic colitis may be a distinct cause of chronic diarrhea in children.     

小儿肛门直肠损伤诊治体会

目的 探讨小儿肛门直肠损伤的诊治及影响预后的相关因素。方法 总结近10年小儿肛门直肠损伤32例的诊治体会，着重对手术时机、手术方式选择等影响疗效的相关因素进行分析。结果 本组32例中，男18例、女14例，平均年龄6．5岁(0．5岁～12岁)。车祸伤17例、意外伤8例、医原性损伤5例、烧伤2例。单纯肛门直肠损伤15例，合并伤17例，其中骨盆骨折7例、尿道损伤10例、阴道损伤2例、膀胱损伤2例、脾破裂2例。伤后直接或及时转入我科17例，并接受了急诊手术，在院外已接受手术处理或延期来院15例。接受3次以上手术5例，2例遗留永久性人工肛门，2例轻度污粪，其余排便功能正常。结论 小儿肛门直肠损伤在临床上并非少见，病情较复杂，常有合并伤。其预后除与致伤原因及受伤程度有关外，与早期诊断、及时处理及手术方法的选择密切相关。     

支原体肺炎合并栓塞23例诊治分析

目的 探讨儿童支原体肺炎合并栓塞的发生、临床特点及诊治.方法 对1990年1月至2012年12月国内外报道过的23例儿童支原体肺炎合并栓塞病例的临床资料进行回顾性分析.结果 23例支原体肺炎合并栓塞患儿年龄为4 ～ 13岁,男15例,女8例.19例单发栓塞,下肢静脉血栓4例,颈内动脉栓塞1例,脑梗死9例,心肌梗死2例,脾梗死2例,肺梗死1例;4例为多发栓塞,肺栓塞合并下肢深静脉栓塞2例,心肌梗死合并肺栓塞1例,大脑中动脉合并颈内动脉栓塞1例.8例有暂时性抗心磷脂抗体IgM阳性,其中2例合并蛋白C下降,1例合并蛋白S下降,而AT-Ⅲ缺乏1例.经过溶栓、抗凝治疗后,2例死亡,其余21例疗效良好.结论 肺炎支原体感染过程中存在高凝状态,具有血栓形成可能,尤其是具有血栓形成高危因素的患儿.早期诊断、积极抗凝、溶栓治疗是支原体肺炎合并栓塞诊治的关键.     

Two cases of left-sided gastroschisis: review of the literature

In gastroschisis, the opening is almost always to the right of the umbilicus, although eight cases of left-sided gastroschisis have been reported in the literature. We encountered two additional cases of left-sided gastroschisis. One was treated successfully, but the another child died. We report the present two these two cases and a review of the literature.     

Paradoxical response to antitubercular drugs

Seven patients with paradoxical response to antitubercular drugs are reported. In three cases of intracranial tuberculomas, newer lesions appeared and in two cases preexisting tuberculomas enlarged. In two cases of tubercular meningitis, multiple tuberculomas appeared. All these cases exhibited newer symptoms and CT/MBI revealed the paradoxical response to antituberculr drugs. All responded to continued conservative therapy, with addition of pyrazinamide.     

Cerebro-oculo-facio-skeletal syndrome: report of two cases from Turkey with postmortem findings

We describe two cases of COFS (cerebro-oculo-facio-skeletal) syndrome in two newborn females of consanguineous parents. The clinical, radiological and pathological features of the patients are presented. One of the two cases had 11 pairs of ribs (Case 1) and the other had three-lobed left lung (Case 2), neither of which has been described in COFS syndrome previously. To our knowledge, these are the first reported cases of COFS syndrome from Turkey.     

Parental origin and cell stage of non-disjunction of double trisomy in spontaneous abortion

Using polymorphic analysis of microsatellites, we investigated the parental origin and mechanism of double trisomies seen in cases of spontaneous abortion. We obtained chorionic villi from spontaneous abortions, and peripheral blood from females who experienced abortion and their spouses. Chromosomal analysis of 170 cases revealed four cases with double trisomy. The karyotypes of these cases are 48,XX,+16,+22, 48,XXY,+18, 48,XX,+15,+21 and 48,XX,+2,+5. In the present study, the incidence of double trisomy was 2.4% of spontaneous abortions. Polymorphic analysis of microsatellites indicated that extra chromosomes were all of maternal origin in the four cases of double trisomy. The predominance of maternal origin in cases of double trisomy is similar to cases of single trisomy. The result also indicated that both extra chromosomes in two cases occurred by non-disjunction at the first meiotic division, and extra chromosomes in the other two cases occurred by non-disjunction at the first mitotic division. The mean maternal age in cases of double trisomy was significantly higher than that in cases of single trisomy. These findings suggest the possibility that abnormal separation of two or more chromosomes may occur simultaneously in oogonia, and that this phenomenon may increase in relation to the increase in age of women.     

Sclerosing treatment of lymphangiomas with OK-432

Over a period of seven years, 15 patients (aged from birth to 15 years; median 22 months) with lymphangioma were treated with OK-432; they received a mean of three injections each. Ten received OK-432 as first line treatment; five were treated after surgery (three had a residual lymphangioma after incomplete removal and two had a late recurrence). OK-432 proved to be effective for primitive as well as for residual and recurrent lymphangioma. Seven cases were macrocystic; complete regression was obtained in all. Five cases were microcystic: two had more than 50% regression, and three less than 50%. Three cases were mixed, with both large and microscopic cysts: one had more than 50% regression, and two less than 50%. These last two cases underwent surgery after the sclerosing treatment. The results obtained were excellent in 100% of macrocystic cases; a shrinkage in size was obtained in all microcystic cases. OK-432 is therefore proposed as a first line option for treatment of lymphangiomas.     

Sclerosing treatment of lymphangiomas with OK-432.

Over a period of seven years, 15 patients (aged from birth to 15 years; median 22 months) with lymphangioma were treated with OK-432; they received a mean of three injections each. Ten received OK-432 as first line treatment; five were treated after surgery (three had a residual lymphangioma after incomplete removal and two had a late recurrence). OK-432 proved to be effective for primitive as well as for residual and recurrent lymphangioma. Seven cases were macrocystic; complete regression was obtained in all. Five cases were microcystic: two had more than 50% regression, and three less than 50%. Three cases were mixed, with both large and microscopic cysts: one had more than 50% regression, and two less than 50%. These last two cases underwent surgery after the sclerosing treatment. The results obtained were excellent in 100% of macrocystic cases; a shrinkage in size was obtained in all microcystic cases. OK-432 is therefore proposed as a first line option for treatment of lymphangiomas.     

Tubuloreticular structures and parallel tubular arrays in the lymphocytes of children with aplastic anemia and acute febrile mucocutaneous lymph node syndrome: Electron microscopic observations

Tubuloreticular structure was found in 3 and 30% of the lymphoid cells from two consecutive cases of MCLS and in 10 and 15% of the lymphoid cells from two consecutive cases of aplastic anemia. Parallel tubular array was found in 8 and 24% of the lymphoid cells from the cases of MCLS and in 3% of the lymphoid cells from the cases of aplastic anemia. The possibility of the viral etiology of the both diseases was discussed. eases was discussed.     

Spectrum of urorectal septum malformation sequence

Urorectal septum malformation sequence (URSMS) is a rare spectrum of malformations involving various organ systems. Here, we present eight cases of URSMS, noted in autopsy, with different degrees of complexity, seven being the complete type and one being the partial type. All cases had gastrointestinal tract malformation in the form of the imperforate anus and indeterminate genitalia. Other gastrointestinal tract anomalies were anal agenesis in two cases, anorectal agenesis in two cases, and malformed lower intestinal tract in four cases. The associated renal abnormality was noted in five cases, which were unilateral renal agenesis, dysplastic kidney, hydronephrosis, horseshoe kidney, and unilateral hypoplastic ectopic kidney. External genital malformation, present in both male and female fetuses, included a knob‐like structure at perineum in female fetuses, genital fold hypoplasia and penile aplasia or hypoplasia in male fetuses. Skeletal abnormalities included two cases of sacral agenesis and one case of lumbosacral dysraphism. Other anomalies included a case with alobar holoprosencephaly, truncus arteriosus with hypoplastic lungs in one case, and three cases with abdominal wall defects. It is our attempt to delineate a spectrum of abnormalities associated with URSMS.     

Clinical and pharmacologic study of fetal supraventricular tachyarrhythmias.

The purpose of this study was to evaluate the efficacy of maternal digoxin administration in 16 cases of fetal supraventricular tachyarrhythmia diagnosed by fetal echocardiography; cardiac anatomy was normal in all cases. The retrospective analysis included nine mothers who received digoxin orally in most cases, with control of the arrhythmia in two fetuses. The addition of amiodarone (five cases) and propranolol (two cases) yielded two successes with amiodarone. The therapeutic regimen of digoxin was then modified on the basis of poor response to orally administered digoxin. In the prospective study, digoxin was administered intravenously to seven mothers according to a standard protocol; high doses (1 to 2 mg intravenously) were prescribed for the first 24 hours and intravenous digoxin therapy was maintained for at least 5 days, depending on the fetal response. Digoxin pharmacokinetic studies of four mothers showed an increased plasma clearance and reduced elimination half-life. Digoxin controlled the five supraventricular tachycardias (with hydrops in four cases). Maternal flecainide therapy restored sinus rhythm in two cases of atrial flutter. Our prospective study emphasizes the efficacy and safety for the fetus and the mother of intravenously administered digoxin as a first-choice drug in the treatment of supraventricular tachyarrhythmias. Flecainide may be a promising second-choice drug but requires further clinical investigation. Amiodarone and propranolol seem to be ineffective.     

Clinical characteristics of congenital toxoplasmosis with poor outcome in Japan: A nationwide survey and literature review

The clinical characteristics of congenital toxoplasmosis cases with poor outcomes in Japan were analyzed. Ten cases were selected, identified from a nationwide survey by the Japan Society for Neonatal Health and Development and a literature review. Based on outcomes, two fatal cases showed generalized symptoms at birth; four cases with neurological sequelae showed the three main congenital toxoplasmosis manifestations (chorioretinitis, intracranial calcification, hydrocephalus); four cases with ophthalmological sequelae showed only one or two of the three main manifestations. Eight cases with poor outcomes were not prenatally diagnosed with congenital toxoplasma infection or suspected maternal toxoplasma infection. The outcome of congenital toxoplasmosis might differ depending on the symptomology.     

Isolated congenital coronary arteriovenous fistula

During the last eight years a total of nine cases of isolated congenital coronary arteriovenous fistula (CAVF) have been diagnosed at our centre. Age of these patients ranged from 11 days to 22 years (mean 6.4±4.2 years). There were seven male and two female patients. Right and left coronary arteries were the sites of origin in seven and three cases respectively. One patient had two fistulae, one each originating from right coronary artery and obtuse marginal artery. The drainage sites were right ventricle in seven cases and right atrium in two. The pulmonary artery pressure was normal in eight cases and elevated in one case. The pulmonary artery to systemic flow ratio ranged from 1.1∶1–2.4∶1 in all except the 11 day-old-baby in whom it was 4∶1. Pulmonary vascular resistance (PVRI) was below 3.5 in all cases (range 1.0–3.5 units). Surgical ligation of fistula was done in four cases and two patients underwent coil embolisation of fistula. Follow-up is available in five out of eight patients including three cases in whom CAVF was closed. Two other young patients are being followed-up conservatively and all the patients are asymptomatic. CAVF can present at any age; majority of the cases have small left to right shunts and more commonly CAVF arise from right coronary artery. Surgical ligation of fistula is safe in older patients, non-surgical embolisation using coils may be an alternative to surgery in selected cases.     

Oto-Palato-Digital syndrome with swvere X-ray changes in two half brothers

The first two cases, reported in Australia of Ot-Palao-Digitalsyyndrome, in two half brothers are described. They show the most severe X-ray changes ever reported in this syndrome, and were already full-blown in one of the brothers who was radiographed at the age of 1 day. These two cases also broaden our clinical and radiographic spectrum of the disease.     

Screening for congenital hypothyroidism in Hong Kong

A pilot cord blood TSH screening program for congenital hypothyroidism was commenced in Hong Kong in April 1982. By April 1984, 14 411 neonates born in two hospitals were screened for this disorder. Five cases of primary hypothyroidism and two cases of transient hypothyroidism were detected. The detection of cases of congenital hypothyroidism with only moderately elevated cord blood TSH values means that the recall rate will remain high.     

14例小儿骨髓坏死临床特点及实验室诊断分析

目的分析近八年郑州大学第一附属医院儿科骨髓坏死(BMN)病例,了解BMN在儿科的发病特点。方法对1996年1月至2003年9月14例小儿BMN的临床表现,实验室检查及原发病诊断进行比较,并做回顾性分析总结。结果12例(86%)并发于恶性疾病,其中6例原发病为急性淋巴细胞性白血病(ALL),神经母细胞瘤(NB)和急性髓细胞性白血病(AML)各2例,非何杰金淋巴瘤(NHL)和MDS各1例;2例(14%)并发于非恶性疾病,其中一例为结核感染,另一例为金黄色葡萄球菌败血症。最显著的临床表现依次为:骨痛12例,发热11例,苍白10例,黄疸7例,皮肤粘膜出血6例。最常见的实验室发现依次为贫血10例,血小板减少7例;骨髓细胞学分析发现轻度骨髓坏死2例,中度4例,重度8例。结论恶性血液肿瘤和恶性转移瘤是小儿BMN的最常见病因,另外严重感染也是小儿BMN的常见病因之一。     

Screening for congenital hypothyroidism in Hong Kong

A pilot cord blood TSH screening program for congenital hypothyroidism was commenced in Hong Kong in April 1982. By April 1984, 14 411 neonates born in two hospitals were screened for this disorder. Five cases of primary hypothyroidism and two cases of transient hypothyroidism were detected. The detection of cases of congenital hypothyroidism with only moderately elevated cord blood TSH values means that the recall rate will remain high.     

Gastrointestinal system duplications in children (19 cases)]

Digestive duplications are a rare condition in children, characterized by an important anatomoclinical polymorphism. Diagnosis suspected on clinics and evoked by radiology, require histological confirmation. PATIENTS AND METHODS: Nineteen children with duplications were managed in our department, from 1989 to 2001: their hospital chart was retrospectively studied. RESULTS: Ten of our patients were less than one year of age, ten were boys and nine were girls. Clinical signs consisted of pain and abdominal mass, with some transit disturbs, and these signs led to ultrasonography and tomodensitometry. In one case alimentary tract duplication was revealed by digestive hemorrhage, leading to scintigraphic study. The digestive duplications were localized on the stomach in one case, the duodenum in two cases, the jejuno-ileum in twelve cases, the colon in two cases, and the rectum in two cases. Five digestive duplications were tubular, with one communicating duplication. All cases benefited from surgical treatment, and resection procedure was chosen according to duplication type and site. Histological study showed eight cases of ectopic mucosa, six ectopic gastric mucosa and two pancreatic ectopic mucosa. CONCLUSION: Diagnosis and surgical precocious treatment of digestive duplications are the only way to warn complications of this benign pathology.     

A case series of nephrogenic adenoma of the urethra and bladder in children: review of this rare diagnosis, its natural history and management, with reference to the literature

Nephrogenic adenoma (NA) is a rare benign tumour of the urinary tract and is found most commonly in the bladder. Here are presented four cases of paediatric NA, two bladder and two urethral. Their diagnostic and management features in the context of differential diagnosis and natural history are discussed. A 3-year-old girl presented with recurrent urinary tract infections (UTIs) and haematuria. She had undergone a previous hemi-nephro-ureterectomy. An ultrasound scan suggested a large bladder tumour, which was biopsied cystoscopically, and histology confirmed an NA. She then underwent open resection of the tumour. A 4-year-old girl presented with recurrent UTIs and a history of previous bilateral duplex ureterostomies and subsequent trans-uretero-ureterostomy with ureteric re-implantation. A cystoscopy showed a papillary tumour, which was confirmed as NA on histology. An 11-year-old boy presented with haematuria and dysuria and no other relevant history. At urethroscopy a ragged area biopsied in the bulbar urethra showed NA. A 7-year-old boy presented with haematuria and no other relevant history. At urethroscopy an inflamed nodular area was biopsied and nephrogenic adenoma confirmed. In the two bladder cases, but not the urethral cases, a causative factor could be identified. Recurrence was noted in both of the bladder cases. The urethral cases had persistent symptoms suggestive of continuing NA. Treatment consisted of endoscopic and open ablation of the tumours, and endoscopic fulguration of recurrences for the bladder cases, and surveillance for the urethral cases. Only two previous cases of urethral and 25 cases of bladder NA have been reported in children.