Unilateral pseudouveitis revealing a pancreatic neuroendocrine carcinoma: A case report

Neuroendocrine tumors are a heterogeneous group of tumors with a wide range of malignant potential that tend to have a relative prolonged course. These tumors infrequently metastasize to the orbit. To the best of our knowledge, ocular metastases from pancreatic neuroendocrine tumors (PNETs) have never been reported in the literature. We report the case of a 61‐year‐old man who presented with progressive deterioration of general condition with unilateral recurrent episodes of non‐granulomatous panuveitis of the left eye related to a choroidal metastasis. Radiological imaging and histopathological analyses led to the diagnosis of metastatic pancreatic neuroendocrine carcinoma as the primary tumor. Choroidal metastases from neuroendocrine tumors are extremely rare, but compromise patients’ well‐being because of visual impairment. Uncommonly, these metastases can be the first manifestation of unknown tumors, warranting further investigations to detect the primary cancer.     

Expanding on the phenotypic spectrum of Woodhouse-Sakati syndrome due to founder pathogenic variant in DCAF17: Report of 58 additional patients from Qatar and literature review

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive neuroendocrine and ectodermal disorder caused by variants in the DCAF17 gene. In Qatar, the c.436delC variant has been reported as a possible founder pathogenic variant with striking phenotypic heterogeneity. In this retrospective study, we report on the clinical and molecular characteristics of additional 58 additional Qatari patients with WSS and compare them to international counterparts' findings. A total of 58 patients with WSS from 32 consanguineous families were identified. Ectodermal and endocrine (primary hypogonadism) manifestations were the most common presentations (100%), followed by diabetes mellitus (46%) and hypothyroidism (36%). Neurological manifestations were overlapping among patients with intellectual disability (ID) being the most common (75%), followed by sensorineural hearing loss (43%) and both ID and aggressive behavior (10%). Distinctive facial features were noted in all patients and extrapyramidal manifestations were uncommon (8.6%). This study is the largest to date on Qatari patients with WSS and highlights the high incidence and clinical heterogeneity of WSS in Qatar due to a founder variant c.436delC in the DCAF17 gene. Early suspicion of WSS among Qatari patients with hypogonadism and ID, even in the absence of other manifestations, would shorten the diagnostic odyssey, guide early and appropriate management, and avoid potential complications.     

Herpes simplex virus infection: Management of primary oral lesions in children

Primary herpetic gingivostomatitis (PHGS) represents the most observed clinical feature of primary herpes infection with the simplex virus (HSV). It is often caused by HSV‐1 and affects children most of the time. Unlike, the majority of primary HSV infections that is asymptomatic. It may be preceded by some prodromal symptoms like fever, anorexia, irritability, malaise, and headache. After the resolution of the primary infection, the virus remains latent in a nervous ganglion. The aim of the present paper was to report a case of severe PHGS with herpetic whitlow in a 10‐year‐old child.