ABSTRACT Tuberous sclerosis is a rare and serious genetic disease, classically characterized by epilepsy, mental deficiency, and sebaceous adenomas; however, it may also be associated with the development of multiple tumors in various organs. Pulmonary artery aneurysm has rarely been described in the literature. This article reports a case of tuberous sclerosis in a 3 year old child with a pulmonary artery trunk aneurysm, cardiac rhabdomyomas, and a bicuspid aortic valve, a combination that has been rarely described in the […]

ABSTRACT Harlequin syndrome is a rare condition characterized by facial dysautonomia with anhidrosis, hemifacial blush, and other nonfacial manifestations without conventional treatment. This report presents a case study of the potential treatment of Harlequin syndrome using laser therapy. A single-case AB design was used, allowing for a systematic comparison between the baseline and intervention phases. The baseline phase involved data collection during a period without intervention (control condition), that is before laser therap. As evaluation criteria, a clinical assessment of […]

ABSTRACT Laryngeal cartilage is an exceptionally rare site of metastasis, with fewer than 63 cases reported in the literature; prostate, kidney, breast, and lung cancers are the most common primary tumors. In addition to this extreme rarity, most published reports are limited to descriptions of the lesion and radiologic findings, without detailing management strategies or follow-up outcomes. The limited number of studies exploring surgical intervention have primarily described superficial resections or conventional laryngectomies. In this context, this case report describes […]

Abstract We report a case of juvenile paracoccidioidomycosis in a previously healthy patient and aim to raise awareness of its severe and atypical clinical manifestations. A 16-year-old male student, employed in automotive cleaning services, originally from Pará and residing in Embu das Artes, São Paulo, presented with progressive lymphadenopathy, jaundice, and signs of acute liver failure. He was admitted to a tertiary hospital, where imaging and histopathological analyses confirmed the diagnosis of paracoccidioidomycosis by identifying Paracoccidioides spp. on lymph node […]

Abstract Postoperative intestinal obstruction is most commonly associated with adhesions but may also arise from unusual causes such as surgical staples adhering to adjacent structures. Although the use of endoscopic staplers in laparoscopic appendectomy is effective and generally safe, it can occasionally result in complications, including intestinal obstruction. We report the case of a 41-year-old woman who underwent surgical treatment for pelvic endometriosis, including appendectomy, and subsequently developed intestinal obstruction caused by an internal hernia formed by the entrapment of […]

Abstract Breast cancer is one of the most prevalent and heterogeneous cancers worldwide; however, it remains a complex and enigmatic disease. Advances in targeted therapies combined with increasing knowledge about tumor subtypes and molecular profiling have placed precision medicine on the frontier of oncological treatments. The recent classification of certain HER2 tumors as HER2-low, along with emerging evidence from studies using antibody-drug conjugates to target specific tumor profiles, highlights the relevance of this case study. This report describes the treatment […]

ABSTRACT The 48,XXYY syndrome is a rare sex chromosome aneuploidy associated with diverse physical, developmental, and endocrine abnormalities. This case report highlights a 15-year-old male with 48,XXYY syndrome presenting with hypopituitarism and a Rathke’s cleft cyst, offering insights into the interplay between genetic syndromes and pituitary dysfunction. The patient exhibited hyperprolactinemia, central hypothyroidism, central hypoadrenalism, and elevated gonadotropin levels. Brain magnetic resonance imaging revealed a cystic lesion within the sella turcica, consistent with a Rathke’s cleft cyst. The patient also […]

ABSTRACT Hypersensitivity pneumonitis is an inflammatory lung disease caused by antigen inhalation after sensitization. Here, we report a rare case of the simultaneous diagnosis of hypersensitivity pneumonitis and epithelioid mesothelioma, a subtype of malignant mesothelioma. A 71-year-old man presented with an occasional dry cough and exertional dyspnea that had persisted for about 1 year. He reported walking daily in a park with a considerable number of birds during same period. Functional evaluation revealed a mild restrictive ventilatory disorder. High-resolution computed […]

ABSTRACT Stress fractures of the sacrum are extremely rare differential diagnoses for persistent low back pain in pregnant and postpartum women. The common occurrence of low back pain due to mechanical overload on the spine, coupled with challenges in obtaining imaging studies during this phase of a woman’s life, often delays and compromises the accurate diagnosis of sacral fatigue fractures. We report the rare case of a postpartum patient who underwent surgery for lumbar disc herniation one year and one […]

ABSTRACT T-cell prolymphocytic leukemia is a rare and aggressive mature T-cell malignancy that usually presents with marked lymphocytosis, hepatosplenomegaly, lymphadenopathy, and B symptoms. However, a minority of patients present with an indolent, asymptomatic form. Case Report: A 44-year-old man was diagnosed with asymptomatic T-cell prolymphocytic leukemia after routine blood tests revealed persistent lymphocytosis. Immunophenotyping revealed a mature CD4–/CD8+ T-cell population. Cytogenetic analysis showed 14q11.2 abnormalities with TCRAD rearrangement by fluorescent in situ hybridization. A monoclonal T-cell population was confirmed by […]