Sclerosing cholangitis revealing histiocytosis X

The case of a 3 year-old boy who presented isolated cholestasis as the initial symptom of histiocytosis X is described. Other symptoms occurred later on. Despite treatment (corticosteroid and Vinblastin), the disease continued to progress and the child died at the age of 4 1/2 years with HIV infection (contaminated blood product) and tuberculosis.     

Sclerosing cholangitis associated to cryptosporidiosis in liver-transplanted children

Three children of a series of 461 pediatric liver transplant recipients developed diffuse cholangitis associated with intestinal cryptosporidium carriage. All three received immunosuppression consisting of tacrolimus and prednisone. Cryprosporidium carriage was treated with paramomycin, while immunosuppression was decreased according to graft tolerance. No other infectious pathogens were found, and no vascular problems were detected. Bile duct anastomosis was reoperated in all three, but biliary cirrhosis developed in one patient, requiring retransplantation. All three patients are alive and well, and free of intestinal parasites on follow-up. Conclusion Cryptosporidium intestinal infection may play a role in some cases of otherwise unexplained cholangiopathies in pediatric liver transplant recipients. This may lead to significant morbidity, including need for retransplantation. Received: 29 June 1999 and in revised form: 10 September 1999 / Accepted: 21 September 1999     

Sclerosing cholangitis and ulcerative colitis in a mother and her son

We present two cases, a 32-year-old mother and her 10-year-old son, both of whom had ulcerative colitis and sclerosing cholangitis. The mother had radiologic as well as pathologic evidence of both diseases, while the child's disease was demonstrated pathologically. A review of the literature indicates the rarity of sclerosing cholangitis in childhood, with no reported instances of a parent-child affliction. The hypothesis that there is a genetic component to the development of sclerosing cholangitis may be supported by this family.     

新生儿硬化性胆管炎1例并文献复习

原发性硬化性胆管炎是一种病因未明的、慢性进展的淤胆性肝脏疾病,新生儿硬化性胆管炎于1987年被首次报道[1]。新生儿硬化性胆管炎初期表现为新生儿期胆汁淤积,与胆道闭锁及其他新生儿期肝炎鉴别困难,我国迄今未见文献报道。我院2005年底收治了1例明确诊断的新生儿硬化性胆管炎患儿,现结合文献进行分析如下。1临床资料1.1病史和体检患儿,男性,53d,G2P2,,足月顺产,出生体重4kg。因皮肤黄染1个月余于2005年底就诊,出生后1周左右出现皮肤黄染,逐渐加深,尿色呈茶色,同时粪便颜色逐渐变淡,入院后观察粪便呈白陶土色。父母为近亲结婚,系表兄妹,第…     

Sclerosing cholangitis and intracranial lymphoma in a child with classical Wiskott–Aldrich syndrome

Patients with Wiskott–Aldrich syndrome (WAS) are predisposed to malignancy and autoimmunity in addition to infections. We report a male child with WAS, who had presented with recurrent pneumonia, eczema, thrombocytopenia, autoimmune hemolytic anemia, and vasculitic skin lesions. Genetic analysis revealed a classical genotype WAS 155C>T; R41X. At 2 years of follow‐up, he developed persistent headache and progressive hepatomegaly. Brain imaging showed a mass in the right frontal region, which on histopathology was shown to be high‐grade non‐Hodgkin lymphoma. Magnetic resonance cholangiopancreatography showed features of sclerosing cholangitis. This report extends the clinical spectrum and highlights unusual manifestations of sclerosing cholangitis and intracranial lymphoma in a patient with WAS.     

Early onset neonatal sepsis

Objective: To study the maternal risk factors and clinico-bacteriological profile of early onset sepsis (EOS), in a tertiary care neonatal unit.Methods: Relevant data of neonates born during the study period were obtained from their case records. A diagnosis of early onset sepsis was made if either clinical sepsis developed within 72 hours of life or if positive blood/CSF cultures were obtained in those with potential maternal risk factors. Statistical analysis was done using Odds Ratio or Chisquare and Fisher’s exact t-test as applicable.Results: Among 1743 live births, a total of 69 episodes of sepsis occurred in 65 neonates (43% culture proven) with an incidence of 37.2 per 1000 live births. The incidence of EOS was 20.7 per 1000 live births and it constituted 55.4% of overall sepsis. Among the perinatal risk factors assessed, a significant association of EOS with prolonged rupture of membranes, foul smelling liquor, dai (midwife) handling and maternal urinary tract infection was observed (p<0.05). Among infants at risk of EOS, 20.6% developed sepsis compared to only 0.5% of those without these risk factors (p 0.001). Even among those at high risk such as low birth weight, preterm, and asphyxiated neonates, incidence of EOS was negligible in the absence of a maternal risk factor. Pneumonia (66.7%), shock (27.7%), metabolic acidosis (19.4%) and meningitis (8.3%) were the comorbidities seen among the cases. Culture proven EOS occurred in 41.6%,Pseudomonas being the commonest (60%) isolate. The case fatality rate was 19.4%.Conclusion: Screening for sepsis in an asymptomatic neonate is warranted only in the presence of a maternal risk factor even if the neonate is at high risk of developing sepsis due to associated problems of prematurity, low birth weight or asphyxia. Knowledge of likely causative organisms of EOS can aid in instituting prompt and appropriate therapy, in order to minimise morbidity and mortality.     

Carbamyl-phosphate-synthetase deficiency with neonatal onset of symptoms.

The clinical course and biochemical findings in a case of carbamyl-phosphate-synthetase deficiency are described. The patient, a boy, presented 48 h after birth with rapidly developing hypotonia and hypothermia. Pulmonary haemorrhage, melaena and haematemesis ensued and despite ventilatory assistance and peritoneal dialysis the patient died on the fifth day. A virtual absence of carbamyl phosphate synthetase I (N-acetylglutamate dependent) was proved by analysis of tissue samples removed post mortem. Other urea cycle enzymes were normal.     

Early onset of neonatal listeriosis

Background: Listeria monocytogenes infection is not commonly reported in China. Increasing the awareness of neonatal listeriosis is necessary. Methods: Six cases of neonatal listeriosis were diagnosed in the neonatal intensive care unit at Beijing Obstetrics & Gynecology Hospital in 2008. We reviewed the clinical features, laboratory findings, timing of treatment, medications used, and the history of the mothers during pregnancy. Results: All six cases were preterm infants. Blood cultures were positive for L. monocytogenes. All of the mothers developed fever in the third trimester of pregnancy, and three of them ended their pregnancy the day the fever appeared. The severity of the clinical symptoms varied in each infant, and all cases were treated with antibiotics immediately after birth. All six cases were discharged from hospital in good health. Conclusions: Neonatal Listeria infection is generally a severe disease. Pregnant women must guard against fever and other manifestations, such as Listeria infection. Clinicians encountering such cases should be attentive to the patient's condition and should provide appropriate antibiotic treatment. Early detection and effective targeted treatment of listeriosis helps to improve the patient's survival and prognosis.     

新生儿化脓性关节炎治疗方式的选择

目的 探讨新生儿期起病的化脓性关节炎治疗方式的选择.方法 回顾性分析我院2004～2015年收治的新生儿期起病的化脓性关节炎患儿52例,其中男37例,女15例,平均起病年龄(17.5±7.6)d,入院年龄(32.6±10.7)d.44例(48个关节)获得8个月至10年的随访,平均随访(4.5±1.2)年.根据治疗方式将获得随访的48个关节分成A组(保守治疗)、B组(传统切开排脓一期关闭伤口+术后灌洗引流)和C组(切开排脓VSD引流+二期关闭伤口).分析患儿的临床表现、影像学结果、治疗方式以及最终结局.结果 52例患儿中,36例(69.2％)接受了手术治疗,14例(26.9％)接受保守治疗.A、B、C三组的平均延误治疗时间(15.0±8.7)d,A组的延误治疗时间(20.0±8.2)d,显著大于B组[(9.7±7.1)d]和C组[(14.6±8.2)d](P＜0.05).A、B、C三组患儿的静脉滴注抗生素时间为(16.9±8.5)d.A组的静脉用药时间[(13.9±5.8)d]显著小于B组[(21.6±12.6)d](P=0.叭5).A、B、C三组的起病年龄、入院年龄、住院天数、术前影像学评分差异无统计学意义(P＞0.05).在获得随访的48个关节中,35个关节获得完全恢复(72.9％),A、B、C三组痊愈率差异无统计学意义(P=1.000).B组和C组合并为一个手术组,其痊愈率为72.7％,手术组和非手术组痊愈率差异无统计学意义(P=0.882).髋关节的痊愈率为33.3％,显著低于膝/踝关节(85.0％),以及肩/肘关节(78.9％).根据Logistic回归分析,术前影像学评分(RR=2.991)、以及是否累及髋关节(RR=9.743)是预测患儿是否有残留畸形或功能障碍的影响因素(P＜0.05).结论 新生儿期起病的化脓性关节炎患儿起病隐匿,容易漏诊和延误就诊.对于起病早期的患儿和累及髋关节的患儿,推荐积极手术治疗,而对于延误治疗时间15d以上的患儿建议保守治疗.抗生素使用时间推荐静脉滴注2周,然后改口服2周,然后根据白细胞、C反应蛋白等炎症指标决定停止或继续使用抗生素.经验性用药一般为第一代头孢菌素或克林霉素,然后根据药敏选择合适的抗生素.     

Early onset neonatal sepsis with Campylobacter jejuni: A case report

Perinatal infections with bacteria belonging to the genus campylobacter are being increasingly recognized. We present a case of early onset neonatal sepsis withCampylobacter jejuni (previouslyC. Fetus ss. jejuni orVibrio jejuni). The infant was born prematurely at 31 weeks of gestation and presented with respiratory distress and frequent apnoea from birth. The chest X-ray film demonstrated reticulogranular pattern consistent with hyaline membrane disease. The infant was successfully treated with ampicillin and gentamicin.C. jejuni infection should be considered in the differential diagnosis of early onset sepsis in the neonate and can mimic the radiological picture of hyaline membrane disease.     

Mitochondrial acetoacetyl-CoA thiolase deficiency: neonatal onset

We present the case of a 4-day-old newborn with serious dehydration, polypnea, hypertonus and lethargy. Blood analysis showed severe metabolic acidosis with ketonemia, ketonuria and elevation of the GAP anion. Urine analysis revealed increased excretion of 2-methyl-3-hydroxybutyrate acid, tiglycine, and 2-methylacetoacetate acid. Neonatal onset of mitochondrial acetoacetyl-CoA thiolase (T2) deficiency is exceptional. Most patients have no clinical symptoms in the neonatal period. This entity should be considered in patients with acute metabolic acidosis and ketosis with normal glycemia and aciduria. The urine contains large amounts of 2-methylacetoacetate and its decarboxylation products. In the neonatal period, this inherited disorder of metabolism can produce severe hydroelectrolyte disorders in the form of a gradual process or acute episodes, which can occasionally be fatal.