Massive thymic hemorrhage and hemothorax occurring in utero

Background: Thymic enlargement is a common and physiological finding in children and neonates' X-rays, but it is usually asymptomatic. Occasionally it can cause respiratory distress. In most cases the aetiology of this expansion remains unclear and it is diagnosed as a thymic hyperplasia. True thymic hyperplasia is defined as a gland expansion, both in size and weight, while maintaining normal microscopic architecture. Often it is a diagnosis of exclusion and prognosis is good. Thymic haemorrhage is an unusual condition related to high foetal and neonatal mortality. Case Presentation: We report a case of spontaneous massive thymic haemorrhage in a newborn developing at birth acute respiratory distress associated with severe bilateral haemothorax. Thymic enlargement was evident after pleural evacuation and confirmed by radiographic, Computed Tomography (CT) images and Magnetic Resonance Imaging (MRI) sequences. The spontaneous resolution of this enlargement seen with CT scan and MRI sequences suggested a thymic haemorrhage; surgery was not necessary. Conclusion: Thymic haemorrhage should be considered in newborn infants with pleural effusion, mediastinal space enlargement and Respiratory Distress

Genetic basis of congenital upper limb anomalies: analysis of 487 cases of a specialized clinic

Background: Specific data regarding the frequencies of the congenital upper limb anomalies (CULA) according to their aetiology are hardly available due to the heterogeneity across classification systems. In this study, we aim at defining the aetiology of CULA of the patients attending Modena University Hospital’s Congenital Hand Malformations multidisciplinary clinic in the years 2004-2012. Methods: Medical records of 487 patients were retrospectively reviewed. On the basis of clinical, anamnestic and genetic data the CULA were distributed into two main groups: (1) non-mendelian aetiology, including prenatal exposure, somatic mutations and amniotic bands and (2) mendelian aetiology including single gene and genomic/chromosomal diseases. CULA were further grouped according to the embryological damage (formation, separation and growth defects) and to the involved axis (radial, ulnar, central). Results: A mendelian aetiology was diagnosed in 199 patients (40.9%), whereas the remaining 288 cases (59.1%) were described as non-mendelian. The involvement of the lower limbs, the presence of malformations in other organs and facial dysmorphisms were significantly more represented in the mendelian cases. The formation defects were significantly more frequent in the non-mendelian group (p<0.001), whereas the frequency of separation defects was higher in the mendelian cases (p=0.0025). Patients with non-mendelian aetiologies showed a significantly higher frequency of central defects (p=0.0031). Conclusion: The two aetiologies differ in terms of patient’s clinical features, morphology defect and axis involvement. These data may be helpful in the diagnostic workup for the indication to perform genetic testing and for the recurrence risk assessment

Assessment of Aspergillus-Specific T Cells for Diagnosis of Invasive Aspergillosis in a Leukemic Child with Liver Lesions Mimicking Hepatosplenic Candidiasis▿

A child with acute myeloid leukemia presented with multiple liver lesions mimicking hepatosplenic candidiasis during the neutropenic phase following the induction chemotherapy. All the available diagnostic tools showed repeatedly negative results, including galactomannan. An enzyme-linked immunospot (ELISPOT) assay showed a high number of Aspergillus-specific T cells producing interleukin-10 [TH2(IL-10)] and a low number of Aspergillus-specific T cells producing gamma interferon [TH1(IFN-γ)], revealing invasive aspergillosis (IA) before the confirmatory biopsy. A progressive skewing from the predominance of TH2(IL-10) to a predominance of TH1(IFN-γ) was observed close to the complete resolution of the infection and foreshadowed the outcome. The ELISPOT assay holds promise for diagnosing pediatric IA