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??Abstract??Wheeze is a common symptom in infants and pre-school children characterized by chronic inflammation of the airway. The management of infantile wheeze focuses on anti-inflammatory agents including corticosteroids?? bronchodilators?? leukotriene receptor antagonists?? antihistamine drugs and macrolides. Here we reviewed the current medications of infantile wheeze and propose a de-escalation combined therapy based on our long-term practice.     

Infantile systemic hyalinosis presenting as intractable infantile diarrhea

Infantile systemic hyalinosis is an autosomal recessive disease characterized by severe progressive flexion contractures, multiple recurring subcutaneous tumours, and gingival hypertrophy. It is caused by mutations in the gene encoding capillary morphogenesis protein-2 (CMG2). Here we report a Saudi infant with infantile systemic hyalinosis who presented with intractable diarrhea, and we review the literature emphasizing recent developments in the molecular genetics of this disease.     

Atypical infantile spinomuscular atrophy presenting as acute diaphragmatic paralysis

Two infants with progressive spinomuscular atrophy presented with severe diaphragmatic dysfunction, increasing to 9 the number of cases with this clinically distinctive variant of Werdnig-Hoffmann disease. The anterior horn cell lesion was generalized but was exceptionally severe in the cervical spinal cord of our cases. Fiber size disproportion in serial thigh muscle samples indicated that qualitative neuronal dysfunction preceded appearance of typical denervation. Shoulder girdle muscle biopsy may be more appropriate in these infants, whose prognosis appears to be universally poor.     

Primary colonic congenital infantile fibrosarcoma presenting as meconium peritonitis

Congenital infantile fibrosarcoma is a rare soft tissue malignancy that occurs in both axial and extremity locations. We report a case of this tumor arising from the left colon in a newborn presenting with an intrauterine perforation and meconium peritonitis.     

Retrospective review of cystic fibrosis presenting as infantile liver disease.

The mode of presentation, clinical course, and outcome of 12 infants with cystic fibrosis and liver disease referred over an 18 year period were investigated retrospectively. Median age at presentation was 6.5 weeks (range, 5-12). Two thirds were boys. Conjugated hyperbilirubinaemia was the presenting symptom in 11 patients, and hypoalbuminaemia in one. Jaundice was cleared over a median period of 7.36 months. Eight patients had bile duct proliferation on liver biopsy and one required cholangiography to exclude biliary atresia. Classic histological features of cystic fibrosis were only present in two children biopsied at 8 and 18 months. Three patients had meconium ileus, including one infant with concomitant alpha(1) antitrypsin deficiency, who required early liver transplantation. All other patients had no signs of significant chronic liver disease during a median follow up of 42 months (range, 10-205). Children with cystic fibrosis and infantile liver disease have a good short and medium term prognosis.     

Intentional infantile ethylene glycol poisoning presenting as an inherited metabolic disorder.

A 6-month-old girl was hospitalized on three occasions for irritability, vomiting, acidosis, and hypotonia. During the third hospitalization hyperglycinemia and urinary glycolic acid were detected. Ethylene glycol was discovered in the infant's blood and bottled formula. Clinicians must consider ethylene glycol intoxication as a cause of recurrent infantile metabolic acidosis.     

Intramedullary neurenteric cyst presenting as infantile paraplegia: a case and review

The authors report a case of a 3-month-old male child with paraplegia in whom magnetic resonance imaging (MRI) revealed a nonenhancing intramedullary cystic lesion extending from the level of D1 to D7 without any other associated anomaly. Intraoperatively, these findings were confirmed and the spinal cord was found to have splayed circumferentially into a papery thin rim. The patient underwent marsupialization of the cyst with subtotal excision of the cyst wall. Histopathological examination revealed ciliated pseudostratified columnar epithelium consistent with the diagnosis of a neurenteric cyst. Intramedullary neurenteric cysts are rare developmental malformations, and out of the 13 previously reported cases, only 3 were evaluated by MRI. This is the first case report in the literature of an intramedullary neurenteric cyst presenting as infantile paraplegia. In the present report, the embryology, etiopathogenesis, radiological imaging and management of this rare clinical entity are discussed and a detailed literature review is presented.     

Malignant infantile osteopetrosis presenting with neonatal hypocalcaemia

Presentation characteristics were reviewed in 14 children from 12 families with malignant infantile osteopetrosis seen at two large referral centres for bone marrow transplantation. Children from six of these families presented initially with symptoms of hypocalcaemia. These comprised early or late neonatal convulsions in six cases (corrected serum calcium < 1.5 mmol/l), and vomiting and irritability (serum calcium 1.68 mmol/l) in another. One other related child had severe and persistent jittering episodes almost certainly attributable to hypocalcaemia. In seven of eight cases, these symptoms developed during the first 14 days of life. Although occasionally reported previously, malignant infantile osteopetrosis remains essentially unrecognised as a cause of neonatal hypocalcaemia, often resulting in diagnostic confusion and delay. This is important in the context of curative haemopoietic stem cell transplantation where preservation of sight may depend on early intervention.     

小儿气管支气管软化症研究现状

气管支气管软化（TBM）是由于呼吸道管腔纵行弹性纤维萎缩或气道软骨结构被破坏所致的管腔塌陷狭窄,引起小儿反复喘息、感染和慢性咳嗽的重要发育异常之一。无特征性症状与体征,软化程度不一,临床表现可从完全没有症状到致死性的缺氧窒息。肺功能、胸部X线片、CT、Mm检查对于小儿TBM的诊断均无特异性。大部分TBM是自限性的,应注意增强体质、减少呼吸道感染的机会,治疗则以保持气道通畅为原则。目前临床医生对本病认识不足,易导致误诊、漏诊。纤维支气管镜在儿科的应用、高分子植入材料的发展给TBM的诊治带来了新的希望。     

The transient value of classifying preschool wheeze into episodic viral wheeze and multiple trigger wheeze

Background:  A recently proposed method for classifying preschool wheeze is to describe it as either episodic (viral) wheeze or multiple trigger wheeze. In research studies, phenotype is generally determined by retrospective questionnaire.
Aim:  To determine whether recently proposed phenotypes of preschool wheeze are stable over time.
Methods:  In all, 132 two to six-year-old children with doctor diagnosed asthma on maintenance inhaled corticosteroids were classified as having episodic (viral) wheeze or multiple trigger wheeze at a screening visit and then followed up at three-monthly intervals for a year. At each follow-up visit, standardized questionnaires were used to determine whether the subjects wheezed only with, or also in the absence of colds. Stability of the phenotypes was assessed at the end of the study.
Results:  Phenotype as determined by retrospective parental report at the start of the study was not predictive of phenotype during the study year. Phenotypic classification remained the same in 45.9% of children and altered in 54.1% of children.
Conclusion:  When children with preschool wheeze are classified into episodic (viral) wheeze or multiple trigger wheeze based on retrospective questionnaire, the classification is likely to change significantly within a 1-year period.     

Exhaled nitric oxide fractions are well correlated with clinical control in recurrent infantile wheeze treated with inhaled corticosteroids

Ghdifan S, Verin E, Couderc L, Lubrano M, Michelet I, Marguet C. Exhaled nitric oxide fractions are well correlated with clinical control in recurrent infantile wheeze treated with inhaled corticosteroids.
Pediatr Allergy Immunol 2010: 21: 1015–1020.
© 2010 John Wiley & Sons A/S Fractional exhaled nitric oxide (FeNO) is a non‐invasive marker of bronchial inflammation in asthma. However, the interest of FeNO measurement remained limited in infantile wheeze. The aim of this prospective study was to evaluate the feasibility and reproducibility of FeNO off‐line measurement in very young children with recurrent wheeze and to assess whether clinical control of infantile wheeze correlates with FeNO levels. Two exhalation samples were collected in mylar balloon during quite tidal breathing. FeNO measurements were performed off‐line by a NO analyzer. The participating patients were aged ≤36 months, wheezes had started before the age of 24 months, and they were receiving maintenance treatment with inhaled corticosteroids for at least 3 months duration. The studied population comprised of 40 uncontrolled infants with persistent wheezy respiratory symptoms, median age 14.5 months, and 40 with optimal controlled infantile wheeze, median age 14 months. The reproducibility was excellent (r = 0.95; p < 0.0001). There was a significant difference in FeNO levels between the groups of persistent wheeze and well‐controlled infants: 19.8 (2.5–99.3) ppb vs. 7.7 (0.6–29.5) ppb, p < 0.0001. At a FeNO level >15 ppb, the predictive values for uncontrolled disease were as follows: positive predictive value = 65%, negative predictive value = 90%. FeN0 levels were not increased by atopy or passive tobacco. Off‐line assessment of FeNO is feasible, reproducible, and well accepted in wheezy very young children. Optimal clinical control of infantile wheeze appeared to be associated with the control of bronchial inflammation when evaluated by FeNO measurements.     

Eosinophil cationic protein and interleukin-8 levels in bronchial lavage fluid from children with asthma and infantile wheeze

It has been shown previously that airway eosinophils characterize childhood asthma and neutrophils contribute to the pathophysiology of both infantile wheezing and asthma. Therefore, eosinophil cationic protein (ECP) and interleukin‐8 (IL‐8) levels in bronchoalveolar lavage fluid (BALF) from asthmatics (n = 16) and infantile wheezers (n = 30) were analyzed as markers of eosinophil‐ and neutrophil‐mediated inflammation. To aid the interpretation, a control group of children (n = 10) with no lower airway pathology were included. Disease severity was assessed by using a symptom score. Surprisingly, no significant difference was found in IL‐8 or ECP levels among asthma, infantile wheeze, and control groups. Asthma was characterized by: a correlation between ECP levels and eosinophil counts (r = 0.618, p = 0.014); a correlation between neutrophil number and IL‐8 levels (r = 0.747, p = 0.002); and increasing IL‐8 levels with symptom score (p = 0.03). In infantile wheezers, IL‐8 levels were poorly related to neutrophil number but were significantly increased when neutrophils were > 10%. Although detectable levels were found in all but one symptomatic infant, IL‐8 concentrations did not reflect the symptom score in infantile wheeze. ECP was unexpectedly correlated to neutrophil percentages (Rho = 0.832, p = 0.001), and a threshold of ECP > 20 ng/ml was associated with persistent symptoms in these infantile wheezers. Hence, in accordance with BALF cellularity, activation of eosinophils was suggested by raised levels of ECP in childhood asthma, but not in infantile wheeze. Neutrophil‐mediated inflammation appeared to better reflect the severity of asthma than that of infantile wheeze. Although its meaning remains to be elucidated, ECP was suggested to be a helpful indicator of persistent infantile wheeze. However, its utility as a marker predicting ongoing asthma remains to be established.