儿童囊性纤维化并发变应性支气管肺曲霉菌病1例报告并文献复习

目的 分析囊性纤维化(CF)并发变应性支气管肺曲霉菌病(ABPA)的临床特征.方法 回顾分析1例确诊为CF并发ABPA患儿的临床资料,分析近10年PubMed、中国知网、万方数据库中报道CF并发ABPA的资料.结果 11岁患儿,男,曾诊断哮喘,因持续咳嗽、喘息入院,初步确诊ABPA.基因检测显示患儿CFTR基因变异,汗...     

Presacral cystic neuroblastoma: case report and review of the literature

Cystic neuroblastoma (CN) is highly unusual; since 2005 only 55 cases have been reported in the medical literature. The authors report a case of pelvic (presacral) CN in a 2-month-old boy. Computed tomography scan confirmed a cystic, septated, and encapsulated mass. Complete tumor excision was achieved. Histopathology diagnosed a stroma-poor and undifferentiated neuroblastoma with multiple calcifications. meta-iodobenzylguanidine scan, radionuclide bone, and a bone marrow aspiration were normal. N-myc amplification was absent. The infant was classified stage I neuroblastoma and received no further therapy (4 y of follow-up). To the authors' knowledge, this is the first report of a CN in a pelvic-presacral location.     

Pediatric cerebellar cystic oligodendroglioma: case report and literature review

Oligodendrogliomas rarely occur in the posterior fossa of childhood and constitute approximately 1% of pediatric brain tumors. Only six pediatric posterior fossa oligodendroglioma cases have been reported to date and none of them were cystic. The authors present a seven-year-old girl with cystic, cerebellar midline localized tumor. A standard suboccipital craniectomy was performed and the tumor was histologically confirmed as oligodendroglioma. After operation the patient underwent radiation therapy and at one the-year follow-up, no recurrence of the tumor was observed.     

Antibiotic inhalation in cystic fibrosis. A review of the literature

Although antibiotic aerosols are widely used for the long-term treatment of chronic Pseudomonas aeruginosa infection in patients with cystic fibrosis, there are no clear therapeutic guidelines for the use of inhaled antibiotics due to the lack of large, well-controlled studies. This paper will review the current knowledge on the deposition and pharmacokinetics, the indication, clinical benefit and possible adverse reactions of inhaled antibiotics.     

Tumour-induced rickets: A case report and review of the literature

Hypophosphataemic rickets was diagnosed in a 6-year-old boy with a negative family history. After 16 years of medical treatment he developed a malignant sarcoma of the right distal thigh. Removal of the tumour by high amputation of the leg resulted in disappearance of the phosphate leak. In spite of surgery and chemotherapy, the patient died due to extensive lung metastases. Retrospective analysis of the initial X-ray films showed a benign lesion on the lateral side of the right distal femur. This lesion is believed to be at the origin of the rickets. This is the first paediatric case reported with malignant degeneration of a benign tumour causing rickets.Conclusion Patients with the classical hallmarks of X-linked, familial hypophosphataemic rickets but no affected family members should have a careful periodic search for a tumour, even years after onset of the disorder.     

A bizarre bezoar: case report and review of the literature

A bizarre case of a foreign-body bezoar is presented. A 16-year-old girl swallowed large amounts of toilet paper as a means of dieting. She presented with a palpable abdominal mass, multiple bezoars in the bowel, and paper excretion in the feces before admitting intentional ingestion of toilet-paper balls. Administration of Gastrografin via a nasogastric tube and enemas resulted in gradual excretion of the paper balls. Accepted: 24 November 1997     

Pleuro-pulmonary blastoma: A case report and review of the literature

Pleuro-pulmonary blastoma is a rare malignant lung tumor in children and distinct from ordinary pulmonary blastoma of adulthood. Combination chemotherapy plays an important role in the treatment of this tumor, but so far no attempt of high dose chemotherapy with subsequent bone marrow or blood stem cell transplantation has been published. The case is reported of a 2-year-old boy with pleuro-pulmonary blastoma who achieved partial remission with conventional chemotherapy and surgery. Subsequent administration of high dose melphalan, etoposide, and carboplatin, followed by autologous blood stem cell transplantation resulted in a 3-month disease-free interval but did not prevent eventual local recurrence, leading to death within a few weeks. Clinical presentation, pathology, management, and prognosis are discussed and the literature reviewed. © 1995 Wiley-Liss, Inc.     

CFTR基因变异致囊性纤维化1例报告并文献复习

目的探讨中国人群囊性纤维化基因型与临床表型的关系。方法回顾分析2015年3月收治的1例囊性纤维化患儿的临床资料,并复习相关文献。结果患儿,女,生后不久开始出现反复咳嗽、咳痰,肺部感染。9岁就诊时有重度营养不良,杵状指(趾),副鼻窦区压痛,双肺散在湿罗音;实验室检查提示胰腺炎;影像学检查提示合并鼻窦炎及支气管扩张;全外显子基因组测序示CFTR基因复合杂合变异,等位基因1,c.1766+5GT(NM_000492.3)剪接突变;等位基因2,c.2805delA:p.L935fs(NM_000492)移码突变;检出基因型匹配囊性纤维化临床表型。检索建库至2018年7月中国知网、万方及PubMed数据库,以"囊性纤维化"和"基因"为关键词组合检索,共检索到7篇文献,报道9例包含c.1766+5GT位点变异的囊性纤维化患儿,加上该例共10例。10例患儿均为中国人,且均以反复咳嗽、咳痰等肺部感染为主要表现,多数合并支气管扩张,仅部分合并胰腺功能不全。结论 c.1766+5GT位点可能是中国人特有的CFTR基因变异位点,与c. 2805 delA:p.L 935 fs变异构成新的复合杂合变异,其临床表型主要以呼吸道感染为主,较少累及消化道。     

Ectomesenchymoma: case report and review of the literature

Ectomesenchymoma (EMCH) is a rare tumor that may arise in the brain or soft tissue. This tumor type is defined as a form including ectodermal components represented by neuroblasts or ganglion cells and differentiated mesenchymal structures of various types. The mesenchymal component is most often a rhabdomyosarcoma, but liposarcoma, malignant fibrous histiocytoma, leiomyosarcoma, chondrosarcoma, malignant schwannoma, and osseous elements have also been recorded. We report a case of an abdominal malignant ectomesenchymoma, containing three components, schwannoma, embryonal rhabdomyosarcoma, and ganglion cells, in a four-month-old infant. We also review 43 previously reported cases.     

Atypical cystic meningioma overexpressing AQP1 in early infancy: case report with literature review

Meningiomas in early infancy are rare lesions, worth to be reported for their exceptional occurrence. The authors report a case of an 11-month-old female child with asymmetric macrocephaly due to the presence of a cystic atypical meningioma associated to bilateral subdural collections. CONCLUSION: This unusual and unique case of atypical cystic meningioma in early infancy showed a high positivity to immunostaining of aquaporin 1, and this pattern could correlate with the coexistence both of cysts and subdural collections.     

Micrococcus luteus pneumonia: A case report and review of the literature

The clinical course of a 69-year-old male with acute myelogenous leukemia is described who, while extremely leukopenic (<100 neutrophils/μ1) from chemotherapy, developed a cavitating pneumonia due to a gram-positive coccus, Micrococcus luteus. Aggressive antibiotic management and attainment of complete remission of his leukemia resulted in a successful outcome. A review of the literature regarding the pathogenicitiy of this organism and, in particular, its occurrence as a cause of pneumonia is presented.     

The Hajdu-Cheney syndrome: A case report and review of the literature

Hajdu-Cheney syndrome which is also known as type VI idiopathic osteolysis is a rare disease transmitted autosomal dominantly. In this syndrome, osteolysis involves primarily the terminal phalanges. We describe here a 18-year-old boy with typical clinical and radiological signs of Hajdu-Cheney syndrome.     

Vitamin K status in cystic fibrosis

Appearance of PIVKA-II (protein induced by vitamin K absence-II) in serum is a biochemical sign of insufficient vitamin K-dependent carboxylation of prothrombin. Plasma concentrations of PIVKA-II and vitamin K1 were determined in 24 children with cystic fibrosis. Eight were supplemented with vitamin K1. The purpose of the study was to determine the occurrence of vitamin K deficiency in cystic fibrosis and to evaluate the effect of vitamin K supplementation. PIVKA-II was detectable in only one unsupplemented child. In this patient, the concentration of vitamin K1 was below the limit of detection of 60 ng/l. Vitamin K1 levels in the other unsupplemented children were normal (mean 476 ng/l = 1 mmol/l). The supplemented patients showed extremely high levels of vitamin K1 (mean 22445 ng/l = 50 nmol/l). In conclusion, vitamin K deficiency occurs infrequently in cystic fibrosis. Checking the coagulation system is advised, but routine vitamin K supplementation is not recommended. If additional vitamin K is needed, the starting dose should not exceed 1 mg daily.     

Vitamin K supplementation in cystic fibrosis

The relation between different doses of vitamin K supplementation, several bone markers, and PIVKA-II concentrations in cystic fibrosis (CF) patients compared to controls was evaluated. Results suggest that a increased vitamin K intake may have significant health benefits for children with CF.     

Giant pancreatic retention cyst in cystic fibrosis: a case report

This is the fourth reported large pancreatic retention cyst in a patient with cystic fibrosis. The cyst recurred 7 months after partial cystectomy and produced extrinsic obstructive jaundice. It is presumed that the retention cyst developed in the ventral pancreas as a consequence of ductal obstruction by inspissated mucus with secondary fibrosis.     

Chediak-Higashi综合征1例分析并文献复习

目的探讨Chediak-Higashi综合征的临床特点,以提高对本病的认识。方法分析1例Chediak-Higashi综合征患儿的临床资料,并对相关文献进行复习。结果本例Chediak-Higashi综合征患儿主要表现为皮肤、毛发色素减退、易感染、眼畏光、出血倾向、肝脾淋巴结肿大、外周神经病变等。血涂片或骨髓片见中性粒细胞内特征性的异常粗大溶酶体颗粒是确诊依据。造血干细胞移植是有望治愈本病的唯一方法。结论 Chediak-Higashi综合征较为罕见,临床表现复杂,预后差,极易漏诊误诊,应提高对本病的认识。