Radiological patterns of pulmonary fungal infection in pediatric hematology and oncology patients.

Objective: To describe the radiological findings in pediatric patients with hematological or oncological diseases who also have an invasive fungal infection (IFI). Materials and Methods: This was a retrospective study of all patients with IFI admitted to a pediatric hematology and oncology hospital in Brazil between 2008 and 2014. Clinical and demographic data were collected. Chest computed tomography (CT) scans of the patients were reviewed by two independent radiologists. Results: We evaluated the chest CT scans of 40 pediatric patients diagnosed with an IFI. Twenty-seven patients (67.5%) had nodules with the halo sign, seven (17.5%) had cavities, two (5.0%) had nodules without the halo sign, and seven (17.5%) had consolidation. The patients with the halo sign and cavities were older (123 vs. 77 months of age; p = 0.03) and had less severe disease (34% vs. 73%; p = 0.04). Ten patients had a proven IFI: with Aspergillus sp. (n = 4); with Candida sp. (n = 5); or with Fusarium sp. (n = 1). Conclusion: A diagnosis of IFI should be considered in children and adolescents with risk factors and abnormal CT scans, even if the imaging findings are nonspecific.

Objetivo: O objetivo deste estudo é descrever os achados radiológicos de infecções fúngicas invasivas em crianças com doenças onco-hematológicas em um único centro, de acordo com a classificação antiga e a atual de imagens típicas e atípicas. Materiais e Métodos: Foram revisados os prontuários de todos os pacientes com infecção fúngica invasiva que foram internados em um hospital pediátrico de oncologia e hematologia de 2008 a 2014. Foram coletados dados clínicos e demográficos. As tomografias de tórax dos pacientes foram laudadas por dois radiologistas independentes. Resultados: Foram identificados 40 pacientes com infecção fúngica invasiva que realizaram tomografias de tórax. Vinte e sete pacientes apresentaram nódulos com sinal do halo (67,5%), sete tiveram cavitações (17,5%), dois tiveram nódulos sem halo (5,0%) e sete apresentaram consolidações (17,5%). Os pacientes que apresentavam achados de nódulos com sinal do halo e cavitações eram mais velhos (123 versus 77 meses; p = 0,03) e tinham menos sinais de doença grave (34% versus 73%; p = 0,04) do que os outros pacientes. Dez crianças apresentaram infecção confirmada (Aspergillus sp., n = 4; Candida sp., n = 5; Fusarium sp., n = 1). Conclusão: O diagnóstico de infecção fúngica invasiva deve ser considerado em crianças com fatores de risco e tomografias de tórax alteradas, mesmo que os achados das imagens sejam inespecíficos.

Clinical and radiological findings in Brazilian patients with mucolipidosis types II/III.

OBJECTIVE: The present study aims to provide orientation for clinicians and radiologists to recognize the most prevalent findings leading to diagnosis in mucolipidosis from a description of the natural history of five Brazilian cases. MATERIALS AND METHODS: We conducted an observational and retrospective study of five patients with clinical and radiological diagnosis of mucolipidosis. Clinical evaluation consisted of information obtained from records and including physical, neurologic, and dysmorphic evaluations. Radiologic studies consisted of complete skeletal radiographs of all patients. Enzyme assessment was performed for confirmation of the diagnosis. RESULTS: The five patients were referred for genetic evaluation due to disproportionate short stature with short trunk accompanied by waddling gait. Age at referral varied from 11 months to 28 years. The most prevalent findings were joint restriction (4/5 patients), neuropsychomotor developmental delay (3/5), coarse facies (2/5), hypertrophic cardiomyopathy (2/5), and mental retardation (1/4 patients). The most common radiological findings were anterior beaking of the vertebral bodies (5/5), shallow acetabular fossae (5/5), epiphyseal dysplasia (5/5), platyspondyly (4/5), pelvic dysplasia (4/5), decreased bone mineralization (4/5), scoliosis (3/5), wide and oar-shaped ribs (3/5), generalized epiphyseal ossification delay (3/5), and hypoplasia of basilar portions of ilea (3/5). Enzyme assessment showed α-iduronidase, α-mannosidase, ß-glucuronidase, hexosaminidase A, and total hexosaminidase increased in plasma and normal glycosaminoglycans concentration. One patient was clinically classified as ML II and four patients as ML III. CONCLUSIONS: The follow-up of five patients showed the typical clinical and radiological findings allowing the diagnosis, thus improving clinical management and providing adequate genetic counseling. Clinicians and radiologists can take advantage of the information from this work, enhancing their differential diagnosis ability.

Thanatophoric dysplasia: case report of an autopsy complemented by postmortem computed tomographic study.

Thanatophoric dysplasia (TD) is one of the most common lethal skeletal dysplasias, which was first designated as thanatophoric dwarfism and described in 1967. The authors report a case of a Caucasian girl with TD, born to a 31-year-old woman without comorbidities. The newborn presented respiratory distress immediately after delivery, progressing to death in less than 2 hours. An autopsy was carried out after postmortem tomographic examination. The autopsy findings depicted extensive malformations of the skeletal system and the brain. The aim of this report is to discuss the pathogenesis and correlate the morphologic features of TD that were disclosed at the tomography and the autopsy.