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We suggest PLAID,APLAID and FCAS3 have to be considered as same diseases,because of our long-term clinical experiences and genetic results in six patients.Small proportion of CVID patients are also PLAID/APLAID/FCAS3 patients and all these have disease-causing-mutations in PLCG2-genes,so it may be better to define all of them as “PLCG2 deficiency”.

COVID-19 causes significant hypoxia along with an inflammatory milieu, which may lead to secondary myocardial infarction and also atherosclerotic plaque rupture. Here we present a case of COVID-19 presented with ACS followed by PTE and CVA.

A 74-year-old female with cervical cancer post radical hysterectomy developed bilateral ureter stricture with pyonephrosis. Retrograde ureteric stent was performed and it was considered an effective procedure other than percutaneous nehrostomy and nephrectomy.

This is a report of an 8-year-old male with Schwartz-Jampel syndrome with severe obstructive sleep apnea. Dental findings include severe maxillary crowding, posterior crossbite, missing lower incisors, and supernumerary lower premolar. Significant craniofacial characteristics include Type I skeletal relationship with bimaxillary hypoplasia, hyperdivergent skeletal pattern, severe constriction of dental arches.

Pneumopericardium, or gas in the pericardial sac, is a rare condition that typically presents with chest pain or pericarditis, but can be severe enough to cause tamponade physiology. The images presented show the typical appearance of pneumopericardium. This patient had tamponade physiology requiring a pericardial drain in the operating room.

Bing-Neel syndrome (BNS) remains a rare complication of Waldenstrom Macroglobulinemia. Given the paucity of this disease, treatment guidelines are based on small clinical trials with limited participants. Here we present a case of BNS that developed while on ibrutinib therapy, followed by a review of the next steps in management.

During coronavirus disease 2019 (COVID-19) pandemic, coinfections with other viral infections are not uncommon, but concomitant atypical bacteria are rare. Herein, we describe a young female COVID-19 patient who developed acute cold agglutinin disease secondary to Mycoplasma pneumoniae. Using an azithromycin-containing COVID-19 therapeutic regimen, both pneumonia and anemia resolved uneventfully.

Portal Hypertension is not a classical presentation of Caroli's Syndrome. However, some young children can present with overt signs and symptoms indicative of advanced disease state despite the improvement in imaging technology which has decreased its diagnostic age. High index of clinical suspicion can help in timely diagnosis and management

A 63 year old patient with chronic lymphocytosis and neutropenia is described. A bone marrow biopsy showed a markedly hypercellular specimen with an interstitial and intrasinusoidal lymphoid infiltrate. Immunohistochemistry and immunophenotyping identified these as LGLs. With paucity of erythropoiesis diagnosis of LGL leukemia with pure red cell aplasia is reached.

The objective of this study is to increase awareness of a rare and atypical presentation of a large glomus tympanicum coexisting with a cholesteatoma in a patient who presented with infectious otorrhea and sensorineural hearing loss.

We report the case of a 73-year-old man who was presumed to have iron deficiency anemia and was treated with iron supplements since adolescence. His workup revealed β-thalassemia minor and H63D homozygous hereditary hemochromatosis complicated with liver cirrhosis and hepatocellular carcinoma.

Cutaneous Leishmaniasis (CL) is often a localized and self-limited disease, but its behavior changes in the state of immunosuppression. Here, we report a rare clinical presentation of disseminated CL after reactivation of leishmania infection in a 42 year old male with corticosteroid induced immune suppression.

Typical form of Hemolytic Uremic Syndrome is caused most commonly enterohemorrhagic E. coli strain O157:H71. Here we report a unique case of HUS secondary to enteropathogenic E. coli infection, with a discussion on the diagnosis of HUS and how it is distinguished from other thrombotic microangiopathies (TMAs).

Colon cancer is a highly prevalent disease worldwide, and approximately 15% of patients present with locally advanced tumors (T4 stage). En bloc resection of the tumor is of pivotal importance and is associated with a highly significant improvement in 5-year survival.

In March 2020 a pandemic was declared due to a novel coronavirus strain. The virus can create a hypercoagulable state. This case is one of the first to report the development of a pulmonary embolism in an infected patient with no known risk factors in an outpatient setting.

A 24-year-old male presented with radiating back pain and progressive neurological deficit. MRI revealed spinal epidural tumor at the thoracolumbar junction. He underwent decompression and excisional biopsy. Histopathology and immunohistochemistry identified it as diffuse large B-cell lymphoma. He received chemotherapy and is asymptomatic at one-year follow-up.

Epidermolytic hyperkeratotic EN (epidermal nevus) is a rare variant of EN, which can be congenital or developed later in adulthood. A 23 years old female presented with a pathologic confirmed epidermolytic hyperkeratotic EN. Dermoscopy can be helpful in the diagnosis of EN, but not in differentiating the variant.