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There are only a few cases of steroid cell tumours that have been described in the literature. Here, we present an exceptionally rare case of a steroid cell tumour arising from the ovary in early pregnancy. Copyright © 2020 J. Weishaupt and U. Herbst.Objective To describe unusual course and unusual phenotypic features in an adult patient with Kearns-Sayre syndrome (KSS). Case Report. The patient is a 49-year-old male with KSS, diagnosed clinically upon the core features, namely, onset before the age 20 of years, pigmentary retinopathy, and ophthalmoparesis, and the complementary features, namely, elevated CSF protein, cardiac conduction defects, and cerebellar ataxia. The patient presented also with other previously described features, such as diabetes, short stature, white matter lesions, hypoacusis, migraine, hepatopathy, steatosis hepatis, hypocorticism (hyponatremia), and cataract. Unusual features the patient presented with were congenital anisocoria, severe caries, liver cysts, pituitary enlargement, desquamation of hands and feet, bone chondroma, aortic ectasia, dermoidal cyst, and sinusoidal polyposis. The course was untypical since most of the core phenotypic features developed not earlier than in adulthood. Conclusions KSS is a multisystem disease, but the number of tissues affected is higher than so far anticipated. KSS should be considered even if core features develop not earlier than in adulthood and if unusual features accompany the presentation. Copyright © 2020 Josef Finsterer et al.Patients with systemic lupus erythematosus (SLE) are at increased risk for infection including opportunistic infections. Fungal infection in particular can be difficult to diagnose and treat and often can be life-threatening in the immunocompromised patient. We present a case in which a patient with SLE presented to the hospital with shortness of breath and cough. Throughout the hospital course, the patient's condition continued to decline leading to acute respiratory failure, and eventually, the patient expired. Postmortem autopsy revealed invasive fungal aspergillosis infection involving the heart, lungs, and brain. Earlier diagnosis and treatment with empiric antifungals may improve survival in these patients. Copyright © 2020 Rochelle Hardie et al.Cystic echinococcosis (CE) is a neglected helminthic disease and major public health problem in several regions of the world. The zoonosis is caused by the larval stage of different cestode species belonging to the genus Echinococcus. CE can affect any organ with the liver and lungs being most commonly involved. The brain is involved in less than 2% of the cases. Selleckchem RG-7112 We report a case of a CE1 echinococcal cyst of the brain in an Iranian patient. Copyright © 2020 Abolghasem Siyadatpanah et al.We presently report the case of hantavirus infection in a 45-year-old male who was hospitalized to our clinic of infectious diseases, with fever, myalgia, vomiting, nausea, headache, and abdominal pain. The physical findings included hepatomegaly, splenomegaly, rash, and conjunctival injection. Eight days before the start of complaints, the patient has cut trees in the mountain. An acute renal failure was observed with an oliguria and an increase of serum creatinine and blood urea nitrogen. Urinalysis shows albuminuria and hematuria. Elevations of amylase, lipase, and liver enzymes levels, low serum albumin level, and thrombocytopenia were observed. A positive ELISA test for hantavirus IgM/IgG antibodies confirmed hemorrhagic fever with renal syndrome. On the third day of hospitalization, the patient had seizures. The unenhanced head computed tomography (CT) performed after seizures showed subcortical bilateral hypodensities within frontal, parietal, and occipital regions corresponding to areas of increased signal intensity in magnetic resonance imaging (MRI) associated with cerebral edema in posterior reversible encephalopathy syndrome (PRES). The treatment consisted of supportive therapy. The patient underwent another head MRI with contrast enhancement after 2 months, which resulted normal. Copyright © 2020 Ermira Muco et al.The patient is a 75-year-old man with history of diabetes and hypertension who presented with syncope after experiencing sharp, 10/10 right flank and abdominal pain worsening over three weeks associated with decreased appetite. Physical examination revealed hepatomegaly and right lower quadrant (RUQ) tenderness, negative for peritoneal signs. Bloodwork showed leukocytosis (13 K/mcl), alkaline phosphatase (141 U/L), total bilirubin (2.0 mg/dL), and gamma-glutamyl transferase (172 U/L). Computed Tomography (CT) revealed multiple hepatic cysts with the largest measuring 17 × 14 × 18 cm (Figure 1). Parenteral opiates provided minimal relief. Cardiac and neurologic etiologies of syncope were ruled out. The patient's course was complicated by opioid-induced delirium as his abdominal pain progressively worsened despite escalating doses of parenteral and oral analgesics. Gastroenterology and interventional radiology consulted to evaluate for Glisson's capsular stretch. Therapeutic aspiration yielded 2.5 L of serous fluid, which alleviated the patient's pain. Cytology was negative for malignancy. Opiates were titrated down. Repeat CT (Figure 2) showed cysts that were significantly reduced in size. The patient showed complete resolution of symptoms and was subsequently discharged. We present a rare case of a large hepatic cyst causing syncope. In the appropriate clinical setting, syncope with RUQ tenderness and hepatomegaly should raise the index of suspicion for hepatic cysts. Copyright © 2020 Mohammad K. Choudhry et al.The classic Rubinstein-Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5' region), which might explain his relatively mild phenotype. Copyright © 2020 Mohammad M. Al-Qattan et al.
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