Heterozygous and Homozygous Variants in SORL1 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. SORL1 variants were present in a high proportion of patients with candidate variants (15%, 3/20). We expand the clinical manifestations associated with the SORL1 gene by reporting detailed clinical and neuroimaging findings of six unrelated patients with AD and SORL1 mutations. We also present for the first time a patient with the homozygous truncating variant c.364C>T (p.R122*) in SORL1, who also had severe cerebral amyloid angiopathy. Furthermore, we report neuropathological findings and immunochemistry assays from one patient with the splicing variant c.4519+5G>A in the SORL1 gene, in which AD was confirmed by neuropathological examination. Our results highlight the heterogeneity of clinical presentation and familial dementia background of SORL1-associated AD and suggest that SORL1 might be contributing to AD development as a risk factor gene rather than as a major autosomal dominant gene.

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. Random biopsies of the colorectal mucosa were normal. Thus, the patient was diagnosed with Epstein-Barr virus mucocutaneous ulcer (EBVMCU).

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. RESULTS: In each patient, the pain stemmed from the cheek (n = 1), the upper lip (n = 2) or the chin and mandibular area (n = 2), and then moved up to the forehead or the scalp with linear trajectory. Pain intensity was moderate (n = 1) or severe (n = 4), and pain quality was stabbing (n = 2) or electric (n = 3). The duration of attacks was very brief, lasting 1 to a few seconds. Three patients had ocular or nasal autonomic accompaniments, and 3 had triggers. CONCLUSIONS: There seems to be a facial variant of EF. These observations could not only expand the clinical spectrum of EF but also enlarge the differential diagnosis of facial pain.

["Staghorn" heart. The pathology of the explanted heart of a patient with clinical diagnosis and genetic variants of non-compacted myocardiopathy]. / Corazón en «asta de ciervo¼. Estudio anatomopatológico del corazón explantado de una paciente con diagnóstico clínico y variantes genéticas de miocardiopatía no compactada.

Non-compacted myocardiopathy is rare, the prevalence ranging between 0.01-0.26%. in adults. We present the macroscopic, microscopic and electron microscopy findings of cardiac transplant samples from a 36-year-old patient diagnosed with non-compacted myocardiopathy. This condition shows a high genetic and phenotypic heterogeneity, with superposition of different phenotypes and variability in the hereditary patterns. Clinical diagnosis is established by coupling imaging results to clinical characteristics. The clinical manifestations of non-compacted myocardiopathy are variable, including arrhythmic events and variable degrees of cardiac failure, although some patients may be asymptomatic. In certain cases a heart transplant may be necessary. The differential diagnosis should be made with hypertrophic and dilated myocardiopathy. However, only a few reports can be found in the literature that discuss the pathology of this condition.

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. We report a 45-year-old female who presented an extraconal mass in the right orbit as an incidental finding in a head computer tomography, without ocular symptoms. Magnetic resonance image showed a well-defined oval mass in the right supraorbital and infraorbital nerves, of similar characteristics, as well as smaller masses in the left supraorbital and infraorbital nerves. A progressive increase in size of the left supraorbital and infraorbital tumor motivated their surgical excision. The histological result was compatible with a neurofibroma. These uncommon orbital tumors are slow growing and affect the sensory nerves of the trigeminal nerve. Neurofibromas usually present progressive symptoms due to the orbital mass, proptosis, or visual changes although not in this case. Surgical removal is the only definitive treatment.

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. We report herein the first case of hepatic-SOS due to intravesical instillation of mitomycin-C, after a traumatic urinary catheterization with significant hematuria. Although this procedure is usually considered safe, without the systemic side effects related to intravenous administration of the drug, clinicians must be aware of its potential risks to facilitate an early diagnosis, avoid a delay in the withdrawal of the causative drug and set up an appropriate therapy as soon as possible.