Repeated fecal microbiota transplantation in a child with ulcerative colitis

We report the case of an 11‐year‐old girl with ulcerative colitis refractory to conventional therapy, who was subsequently treated successfully with repeated fecal microbiota transplantation (FMT). The patient was steroid dependent despite several infliximab treatments, and colectomy was proposed to improve quality of life. After repeated FMT, she was able to maintain remission with on minimal dose of steroid. Although her fecal microbiota was dysbiotic before FMT, it was restored to a similar pattern as the donor after repeated FMT.     

Cross-sensitivity in a child with anticonvulsant hypersensitivity syndrome

We describe a fulminant picture of anticonvulsant hypersensitivity syndrome (AHS) and the possible role of nitrazepam. A 5-month-old boy developed fever and rash after the use of phenobarbitone. Allergy to phenobarbitone was suspected. Nitrazepam was substituted for seizure control. Over the next few days he progressively collapsed with fever, facial oedema and multi-organ involvement. The diagnosis of AHS was delayed because nitrazepam has not been implicated in the development of cross-sensitivity. AHS is a severe multi-organ reaction to aromatic anti-epileptic drugs. It has been thought to occur as a consequence of pre-existing pharmacogenetic and immunologic abnormalities. Careful selection of anti-epileptic drugs is essential as cross-sensitivity is common. Intermittent benzodiazepines have been recommended in managing breakthrough seizures in AHS. However, the structure of benzodiazepines contains aromatic rings and potential cross-reactivity cannot be totally ignored. Although we do not have direct proof, we believe that nitrazepam prolonged the clinical course.     

Hypereosinophilic syndrome in a child presenting as eosinophilic pharyngitis

A 3-year-old child with idiopathic hypereosinophilic syndrome (IHES) presented with sore throat and pharyngeal exudate. Recurrent throat cultures were negative and microscopic section of the exudate revealed an extensive eosinophilic infiltration. Fourteen months later, the child still has marked hypereosinophilia and pharyngeal involvement without other organ involvement. Eosinophilic pharyngitis may be a target organ in IHES. The benign clinical course and the laboratory characteristics are described.     

Hepatic failure in a child with anti-epileptic hypersensitivity syndrome

An 11-year-old boy developed severe hypersensitivity reaction to phenobarbitone resulted in fulminant hepatic failure. During the course of illness, he developed clinical features compatible with severe acute respiratory syndrome (SARS) that may have complicated the recovery of his underlying hypersensitivity reaction, which was subsequently controlled with intravenous immune globulin and corticosteroids.     

Tricho-hepato-enteric syndrome presenting with mild colitis

Introduction  A four and half-year-old girl was admitted to our clinic with the complaints of diarrhea since birth and failure to thrive. Discussion  The characteristic findings in physical examination were facial dysmorphism, hepatomegaly, and wooly hair. Trichorrhexis nodosa was established in microscopic hair examination. Colonoscopy and histopathologic examination of colonic mucosa revealed mild colitis. In the light of previously published cases, this patient was accepted as a mild variant of syndromic (phenotypic) diarrhea or tricho-hepato-enteric syndrome. We conclude that a mild phenotypic variant of this disease exists that may present with colitis.     

Rapidly progressive bronchiectasis complicating ulcerative colitis in a child.

Patients with ulcerative colitis may have a presentation dominated by extraintestinal manifestations. These manifestations, particularly bronchiectasis, are very rarely seen in pediatric patients. A 13-year-old boy with ulcerative colitis who was diagnosed by colonic mucosa biopsy is presented. He developed unexplained productive cough after the appearance of colonic disease. He was treated and followed up at his primary care hospital with the sole diagnosis of ulcerative colitis, with little attention given to the chest symptoms. The relation of the bronchial involvement to the ulcerative colitis was not established until two years after the onset of disease. Thoracal computed tomography (CT) examination after this period showed evidence of bronchiectasis and pulmonary involvement. Despite prophylactic inhaled corticosteroid treatment, no clinical or radiographic improvement was observed and widespread bronchial destruction developed very rapidly. More effective treatment with oral steroids was probably necessary in this patient, if the early chest symptoms were related to the ulcerative colitis.     

以矮身材为主要表现的Gitelman综合征1例报告

患儿,男,10岁7个月,因发现身材矮小3年就诊。近1年身高增长速率约为3 cm/年,体重增长约1.5 kg/年。患儿无烦渴、多尿、嗜盐、腹泻;无乏力、盗汗;无恶心、呕吐;无手足搐搦;食欲欠佳,睡眠良好,大便干燥,小便未诉异常。个人史:患儿系足     

Churg-Strauss syndrome presenting as an abdominal mass in a non-asthmatic child

A 2-year-old boy presented with an abdominal mass and was diagnosed as Churg-Strauss syndrome (CSS). There was no history of asthma. He developed fatal gastro-intestinal disease, despite treatment with corticosteroids and cyclophosphamide. CSS is extremely rare in young children and gastro-intestinal involvement might carry a worse prognosis than in adults.     

Simultaneous presentation of coeliac disease and ulcerative colitis in a child

Coeliac disease and inflammatory bowel disease (IBD) individually are not uncommon in children, but the occurrence of both conditions together is rare. The combined presentation of coeliac disease and IBD in a girl of 7 years is presented with a review of the related literature. The occurrence of coeliac disease with IBD should be considered at the time of diagnosis and at relapse, or where there is difficulty maintaining remission in established IBD. Screening with serum antibody tests may be helpful.     

Cerebral sinus thrombosis in a child with active ulcerative colitis and factor V Leiden

Ulcerative colitis (UC) is a rare cause of cerebral sinus thrombosis. We describe a 10‐year‐old patient with UC who developed cerebral sinus thrombosis during an acute exacerbation of his colitis and was found to be heterozygous for factor V Leiden. He was successfully treated with enoxaparin. Enoxaparin was then used for prophylaxis during acute exacerbations of his UC without any recurrence/progression of cerebral venous thrombosis. This report describes a cerebral thrombotic event in a child with UC and factor V Leiden. Pediatr Blood Cancer 2009;52:867–869. © 2009 Wiley‐Liss, Inc.     

Membranous nephropathy presenting with nephrotic syndrome in a child with thalassemia major

Few data on the renal effects of thalassemia syndrome are available in the literature. Recent clinical studies identified proximal tubular damage and glomerular filtration abnormalities in thalassemia. Iron‐chelating agents might be nephrotoxic as well, but proven glomerular injury, either due to anemia or chelating therapy, has not previously been demonstrated in thalassemia patients. Here, we report the first thalassemia patient presenting with nephrotic syndrome to be diagnosed with membranous nephropathy in the literature.     

Leukaemia presenting as respiratory distress in a child with asthma

Asthma is the most common reason for children to present to an emergency department complaining of shortness of breath. The diagnosis, based on one or more of a positive history of atopy, physical examination findings consistent with reactive airways disease, and a clinical response to bronchodilator therapy is usually straightforward. It is important however, to consider other diagnoses, particularly when patients present differently from that which has previously been documented and/or have unexplained physical findings.     

Eyelid mass as the presenting finding in a child with Down syndrome and acute megakaryoblastic leukemia

Children with Down syndrome are at increased risk of developing acute megakaryoblastic leukemia (AML). Therefore, physicians caring for children with Down syndrome should be familiar with the presenting features of AML. We describe a child with Down syndrome presenting with a left eyelid mass 1 month before a diagnosis of acute AML.