Heterozygous and Homozygous Variants in Gene in Alzheimer's Disease Patients: Clinical, Neuroimaging and Neuropathological Findings.

In the last few years, the SORL1 gene has been strongly implicated in the development of Alzheimer’s disease (AD). We performed whole-exome sequencing on 37 patients with early-onset dementia or family history suggestive of autosomal dominant dementia. Data analysis was based on a custom panel that included 46 genes related to AD and dementia.

EBV-positive mucocutaneous ulcer - Only in immunosuppressed patients?

We report the case of a 42-year-old male without a previous medical history who presented with hematochezia, tenesmus, and weight loss over two months. An ulcerated lesion located on the pectineal line, covering the entire circumference, was identified by colonoscopy. Histologically, there was a lymphoplasmacytic infiltrate and histiocytes with atypical Hodgkin-like lymphoid cells, and the immunohistochemistry tested positive for EBV.

Localized Bilateral Superior and Inferior Orbital Neurofibroma in the Absence of Neurofibromatosis.

Localized or isolated neurofibromas are peripheral nerve sheath tumors. They are rare in the orbit and occur without a systemic neurofibromatosis. There are few cases of bilateral tumors reported but none affecting both supraorbital and infraorbital nerves.

["Staghorn" heart. The pathology of the explanted heart of a patient with clinical diagnosis and genetic variants of non-compacted myocardiopathy].

Non-compacted myocardiopathy is rare, the prevalence ranging between 0.01-0.26%.

Hepatic sinusoidal obstruction syndrome secondary to intravesical instillation of mitomycin-C.

Hepatic sinusoidal obstruction syndrome (SOS) is a life-threatening complication with high mortality rate. Even if it is more commonly described after hematopoietic stem-cell transplant, hepatic-SOS may occur following the use of certain chemotherapeutic agents. Mitomycin-C has been previously identified as a causal agent when administered intravenously at high doses.

Facial pain radiating upwards: could the pain of epicrania fugax start in the lower face?

Background: Epicrania fugax (EF) is characterized by painful paroxysms starting in a particular area of the head, and rapidly radiating forwards or backwards through the territories of different nerves. In former clinical descriptions, the pain moved between the posterior scalp (C2) and the frontal or periorbital area (V1), either in forward or backward direction.

Methods: We report 5 patients with a paroxysmal EF-type pain starting in the lower face (V2 or V3) and radiating upwards.