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首页> 外文期刊>The Internet Journal of Pathology >Undiagnosed DiGeorge anomaly in a child with recurrent chest infections: An Autopsy Report With Brief Review Of Literature
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Undiagnosed DiGeorge anomaly in a child with recurrent chest infections: An Autopsy Report With Brief Review Of Literature

机译：患有反复性胸部感染的儿童的未确诊的DiGeorge异常：尸检报告并简要回顾了文献

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We report a case of 3 year old female child who remained a diagnostic dilemma for the clinicians during her life. The cause of recurrent chest infections in this child could not be found ante mortem which ultimately led to delayed specific treatment and demise of the patient. Autopsy revealed classical features of DiGeorge anomaly in the form of rudimentary thymus, ventricular septal defect, bronchopnumonia and T cell deficiency. DiGeorge anomaly is a rare disorder but it should always be considered in a pediatric patient presenting with recurrent infections. This may help in early diagnosis and avoid fatal outcome of the disorder. Introduction The child with recurrent chest infections presents the clinician with a difficult diagnostic challenge. Disorders presenting this way include cystic fibrosis, congenital abnormalities of the respiratory tract, bronchial asthma, bronchiectasis following acute pneumonia and sometimes inhalation of food or a foreign body. Rarely an immune defect may also be responsible for severe, recurrent respiratory infections unresponsive to conventional treatment. Immune defects are either primary (congenital) or secondary (acquired). Secondary causes are usually in the form of malignancy, immunosuppressive therapy, measles, malnutrition or HIV infection. Primary immunodeficiency may be due to defect of antibodies, T-lymphocytes, phagocytes or the complement system. 1 DiGeorge anomaly is the one with deficiency of T Cells. In this condition there is often a delay of years between the onset of symptoms and the diagnosis being made. The delay might increase the risk of irreversible lung damage occurring before appropriate treatment is given. 2 Besides common causes of immunodeficiency i.e., acquired immunodeficiency syndrome, X-linked agammaglobulinemia etc, a possibility of rare Digeorge anomaly therefore should always be considered in a young child presenting with recurrent respiratory infections specially if accompanied with congenital heart disease and abnormal facies. Autopsy findings in DiGeorge anomaly are rarely described in the literature. 3 Moreover aim of this report is to describe the approach to pathological diagnosis of a clinically unsuspected DiGeorge anomaly. Case report A three year old female child born of full term vaginal delivery presented pediatric out patient department with fever, cough and rapid breathing since 1 week. She also had episodes of seizures and altered sensorium for three days. There was past history of recurrent chest infections since the age of two months which responded to medical treatment. On examination the patient had abnormal facies in the form of microcephaly, low set ears and a flat nasal bridge. Cardiovascular examination revealed acyanotic heart disease with apex in the 5th intercostal space in left mid-clavicular line, pre-cordial bulge, epigastric pulsations and parasternal thrill. S1 was normal however S2 was loud with palpable P2, gallop rhythm and grade IV pansystolic murmur. Biochemical investigations were performed which revealed deranged calcium levels, the lowest value being 5.6 mg%. Due to difficulty to reach a definite diagnosis based on clinical and biochemical findings a chromosomal study was planned but before this the child succumbed to her illness. A complete autopsy including brain examination was performed after an informed consent from the parents. Autopsy Findings:All the visceral organs were studied. The lungs weighed 215gms against the normal average weight of 120gms for the age. The pleural surface of both the lungs was discolored and cut surface showed areas of hemorrhage and consolidation. Multiple sections were studied which revealed confluent necrotizing bronchopneumonia (figure 1), hemorrhage, edema and grade I pulmonary artery hypertension. No fungal profiles were seen thereby excluding the possibility of any fungal infection. The heart weighed 64gms and on opening revealed right ventricular hypertrophy, the wall thickness be
机译：我们报告了一例3岁女童，她一生仍然是临床医生的诊断难题。死前未发现该患儿反复胸部感染的原因，这最终导致特异性治疗延迟和患者死亡。尸检揭示了DiGeorge异常的经典特征，如原始胸腺，室间隔缺损，支气管肺炎和T细胞缺乏症。 DiGeorge异常是一种罕见的疾病，但在患有反复感染的儿科患者中应始终考虑使用。这可能有助于早期诊断并避免疾病的致命后果。简介患有反复性胸部感染的儿童给临床医生带来了困难的诊断挑战。以这种方式出现的疾病包括囊性纤维化，先天性呼吸道异常，支气管哮喘，急性肺炎后的支气管扩张以及有时吸入食物或异物。很少有免疫缺陷也可能导致对常规治疗无反应的严重反复呼吸道感染。免疫缺陷是原发性（先天性）或继发性（先天性）。次要原因通常是恶性肿瘤，免疫抑制疗法，麻疹，营养不良或HIV感染。原发性免疫缺陷可能是由于抗体，T淋巴细胞，吞噬细胞或补体系统的缺陷所致。 1 DiGeorge异常是T细胞不足的一种。在这种情况下，症状发作与做出诊断之间通常会延迟数年。延迟治疗可能会增加在给予适当治疗之前发生不可逆肺损害的风险。 2除了常见的免疫缺陷病因，即获得性免疫缺陷综合症，X连锁性丙种球蛋白血症等外，因此应始终考虑在患有反复呼吸道感染的幼儿中罕见的Digeorge异常的可能性，特别是如果伴有先天性心脏病和异常相。文献中很少描述DiGeorge异常的尸检结果。 3此外，本报告的目的是描述对临床上未怀疑的DiGeorge异常进行病理诊断的方法。病例报告一名足月阴道分娩的三岁女婴自1周以来就诊于儿科门诊，伴有发烧，咳嗽和呼吸急促。她还发作了癫痫发作和感觉改变了三天。从两个月大的年龄开始就存在反复的胸部感染史，这对药物治疗有所反应。经检查，患者有小头畸形，耳朵低垂和鼻梁平坦的异常形态。心血管检查发现紫癜性心脏病，左锁骨中线第5肋间隙处有先端，有前腹胀，腹上搏动和胸骨旁刺激。 S1正常，但S2大声，有明显的P2，疾驰的节奏和IV级全收缩期杂音。进行了生化研究，发现钙水平错乱，最低值为5.6 mg％。由于难以根据临床和生化检查结果作出明确的诊断，因此计划进行一项染色体研究，但在此之前该孩子已屈服于自己的病。在父母知情同意后，进行了包括脑部检查在内的完整尸检。尸检结果：对所有内脏器官进行了研究。正常年龄的平均体重为120克，肺部的重量为215克。两只肺的胸膜表面都变色了，切开的表面显示出出血和巩固的区域。研究了多个切片，显示融合性坏死性支气管肺炎（图1），出血，水肿和I级肺动脉高压。没有观察到真菌概况，因此排除了任何真菌感染的可能性。心脏重64gms，开放时显示右心室肥大，壁厚为

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