Visceral leishmaniasis (VL) was known as an opportunistic infection associated with immunosuppression, particularly related to human immunodeficiency virus infection and rarely to solid organ transplant recipients. We report a case of VL, 6 months after liver transplantation, in a patient who presented with febrile pancytopenia. The diagnosis was made by demonstration of amastigotes in smears from bone marrow. VL is a very rare infection in patients who undergo liver transplantation and, to our knowledge, this is the first case diagnosed in Portugal.
Although previously reported, the existence of a neurofibromatosis (NF)-associated diffuse lung disease (DLD) still lacks solid evidence. We report a case of a 68-year-old non-smoking female with NF1, pre-capillary pulmonary hypertension (PH) and an interstitial lung pattern. Initial findings included progressive dyspnea, hypoxemia and sparse centrilobular ground-glass micronodules on high-resolution computed tomography (HRCT). Further study demonstrated a severe defect in diffusing capacity for carbon monoxide (DLCO), macrophages on bronchoalveolar lavage and pre-capillary PH on right cardiac catheterization. Surgical biopsy revealed macrophage accumulation along bronchovascular bundles and alveolar spaces and type II pneumocytes hyperplasia. Given the absence of environmental exposure or new drugs, a NF-DLD was hypothesized. Pre-capillary PH was disproportionate to interstitial findings, so it was attributed to a NF1-vasculopathy. Treatment with triple sequential combined therapy was unsuccessful culminating in death 18 months later. This case adds HRCT and anatomopathological data suggesting NF-DLD as a distinct manifestation of the disease.
Conflicts of Interests:The Authors declare that there are no competing interests.
This article is licensed under a Commons Attribution Non-Commercial 4.0 LicenseABSTRACT Background: Some patients exhibit features of both autoimmune hepatitis (AIH) and primary sclerosing cholangitis (PSC). Similarly, patients with progressive familial intrahepatic cholestasis type 3 (PFIC3) may share histological features with PSC. Case report: We report the case of a 22-year-old man who, since he was 5 years of age, has presented with pruritus, an approximately ninefold elevation of aminotransferases, and γ-glutamyl transferase levels ~10 times the upper limit. Initially he was diagnosed with an overlap syndrome of small duct PSC plus AIH. However, fluctuations in liver enzymes were observed over the following years. Analysis of the ABCB4 gene indicated the diagnosis of PFIC3, revealing a mutation not previously reported. Conclusion: With this case report we aim to describe a new mutation, raise awareness of this rare pathology and highlight the importance of genetic testing of the ABCB4 gene in patients with autoimmune liver disease (mainly small duct PSC) with incomplete response to immunosuppressive treatment.
LEARNING POINTS• Autoimmune liver diseases have a wide spectrum of manifestations.• Cholangiopathies such as ABCB4 deficiency have histological features quite similar to those seen in small duct primary sclerosing cholangitis.• The new mutation of the ABCB4 gene described in this article is compatible with the diagnosis of progressive familial intrahepatic cholestasis type 3, which is probably less rare than usually thought.
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