Loeffler syndrome and Mycoplasma pneumonitis. A case report

We describe a clinical case of Loeffler syndrome occurred in a famale aged 13 years. This syndrome is characterized by fleeting pulmonary infiltrates and blood eosinophilia until 70%. Patients usually are only mildly ill or asymptomatic and recovery occurs from few days to some months. Principle causes are: a) mycetes as Aspergillus; b) helmints as Toxocara, Ancylostoma, Trichinella, Ascaris, Strongyloides, Schistosoma; c) chemical agents such as penicillin, para-aminosalycilic acid, hydralazine, nitrofurantoine, chlorpropamide. This girl came to our observation in good general conditions with murmur reduction on the thorax left side, marked peripheral eosinophilia (E 55% of 6100 white blood cell), right pulmonary infiltrate on RX and CT scan. One month before she had fever, treated with amoxycillin and clavulanic acid. Mantoux, Prick tests for main inhalant allergenes, ACE, repeated stools and seric investigations for parasites, mycetes and organisms, were negative except for IgM anti-Myco-plasma antibodies. Broncholavage showed marked eosinophilia. Smear didn't show any blast. The girl recovered in about 40 days (E 4.1% of 8500 WBC, RX negative). Our hypotesis is a causative role of amoxycillin in inducing the syndrome, even if this is a rare event, with an overlapping of a Mycoplasma infection.     

Blueberry muffin syndrome owing to congenital rubella: case report

A case of congenital rubella is reported in a 22-day-old boy presenting with a 'blueberry muffin' rash. Late-onset blueberry muffin syndrome following congenital rubella is very rare.     

Interstitial pneumonitis associated with mitomycin C and DTIC: A case report

A case of interstitial pneumonitis secondary to mitomycin C and DTIC combination therapy in a 58-year-old male with metastatic adenocarcinoma of the rectum is reported. Dry cough and dyspnea, especially on exertion, were presenting symptoms. Arterial blood gas analysis was compatible with severe impairment in pulmonary diffusion capacity. Chest x-ray showed a diffuse increase in interstitial markings in both lung fields consistent with interstitial pneumonia. Histologically, prominence of type I pneumocytes, focal proliferation of type II pneumocytes, and varying degree of fibroblastic proliferation and collagenization within the alveolar septae were observed. The obliteration of alveolar septal vessels due to endothelial edema and/or proliferation of fibroblast-like mesenchymal cells were also noted. Withdrawal of drugs and institution of high dose corticosteroid therapy were followed in rapid improvement in dyspnea and arterial blood gas findings. If diagnosed early, this potentially life threatening complication may respond to such therapy.     

Treacher-Collins综合征一例

患儿男,4个月余,因确诊新生儿缺氧缺血性脑病(HIE)4个月余,家人发现听力差1个月就诊.患儿系第2胎第2产,足月顺产出生,出生体重3.85 kg,患儿生后即被发现有特殊面容,双耳畸形,曾于我院新生儿科诊断为"HIE,双耳畸形".近1个月来家人发现听力差而就诊.否认有窒息及黄疸迁延史,二便正常,饮食睡眠可.生后母乳喂养至今.生长发育史:3个月抬头,现不会笑,反应欠灵敏,表情不活泼,4个月余不会翻身.母孕期否认有服药史,父母非近亲结婚.有一姐因"脑积水、先天性心脏病、双耳畸形"于生后7 d夭折.     

Coffin-Lowry 综合征一例

患儿,男,2岁6个月,以语言以育迟缓入院。患儿为第1胎第1产,过期产12d,出生体重2900g 。生后认知及运动发育落后,全身软弱,9个月会坐,1岁8个月会走,但不稳,1岁6个月可用手势表示“再见”,     

Congenital rubella syndrome with death from interstitial pneumonia

There was a rubella epidemic in Japan in 2012–2013, which led to an increased number infants being born with congenital rubella syndrome (CRS). Symptoms of CRS are varied and include cataracts, congenital heart disease, and hearing impairment, but case reports of CRS complicated by interstitial pneumonia are rare. We report the case of a patient with CRS who died of respiratory failure caused by interstitial pneumonia. Thrombocytopenia had been present for approximately 1 month after birth, and the patient presented with sudden lung hemorrhage at 64 days old. Thereafter, respiratory condition deteriorated, and the patient died at 107 days old. Given that infants with CRS who have thrombocytopenia and interstitial pneumonia have a high risk of death, they should be monitored carefully for potential complications.     

罕见ICF综合征1例临床表型和分子遗传学分析

目的探讨免疫缺陷、着丝粒不稳定和面部异常(ICF)综合征的临床特征和遗传特点。方法回顾分析1例ICF综合征患儿的临床资料和基因检测结果。结果男性患儿,4岁,有反复感染;面部特征为圆脸、眼距稍宽、下颌尖、鼻梁稍扁、内眦赘皮明显、耳位低。免疫学检测示IgA缺如。基因测序发现患儿DNMT3B基因存在一个纯合错义突变c. 2506 GA,父母为杂合携带者,确诊为ICF综合征I型。结论 DNMT3B基因突变可引发ICF综合征,基因检测有助于提高此类罕见病的诊断。     

Autoimmunity in congenital rubella syndrome

Two hundred one deaf adolescents with congenital rubella syndrome and 83 age-matched deaf control subjects were evaluated for the presence of organ-specific antibodies directed against thyroid microsomes, thyroglobulin, pancreatic islets, adrenal cortex, and gastric parietal cells. Positive thyroid microsomal or thyroglobulin antibodies were found in 23.3% (47/201) of the rubella group and in 12.0% (10/83) of control subjects. Nine of 46 (19.6%) in the rubella group and two of nine (22.2%) control subjects with thyroid autoimmunity had thyroid gland dysfunction as indicated by elevated serum TSH concentrations. Neither islet cell nor adrenal cortical antibodies were detected in any subject tested; parietal cell antibodies were detected in 5.5% (8/146) of those in the rubella group and 8.8% (6/68) of control subjects tested, but occurred most frequently in subjects with thyroid autoimmunity (6/36, 16.7% vs 8/178, 4.5%; P less than 0.05). It is recommended that all patients with congenital rubella syndrome be screened for thyroid autoimmunity and that those with positive antibody titers be evaluated for the presence of thyroid dysfunction.     

A profile of mothers giving birth to infants with congenital rubella syndrome. An assessment of risk factors

To formulate strategies for elimination of congenital rubella syndrome, it is important to identify risk factors for delivering an infant affected by it. We analyzed cases of congenital rubella syndrome in infants born from 1970 to 1985 and reported to either one of two independent Centers for Disease Control surveillance systems. Mothers of infants with congenital rubella syndrome identified in both surveillance systems were disproportionately younger than mothers giving birth in the United States. The risk for delivering an infant with congenital rubella syndrome was approximately 2.5 times higher for blacks compared with whites for both reporting systems. A total of 18% of infants with congenital rubella syndrome born since 1979 were Hispanic (national population average, 7%). Both surveillance systems showed that, although primiparous mothers were at highest risk, 39% of women delivering infants affected by congenital rubella syndrome had had at least one previous live birth, suggesting that postpartum immunization could have prevented these congenital rubella syndrome cases. Young, black, and Hispanic primiparous women represent populations at elevated risk for delivering a congenital rubella syndrome-affected infant and should be specifically targeted for immunization.