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Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

ABSTRACT: Background:We retrospectively reviewed the neuroimaging findings of patients with Cowden syndrome and determined their frequency in a single cohort. Methods:Electronic medical records were queried from January 1999 to January 2017 to identify patients who fit the clinical criteria for diagnosis of Cowden syndrome with or without a documented PTEN mutation. Patients with brain MRI examinations were then identified. Results:We retrospectively identified 44 patients with Cowden syndrome, 22 of whom had neuroimaging for review. Eleven (50%) had Lhermitte-Duclos disease, 4 (18.1%) had meningiomas, 13 (59.1%) had at least one developmental venous anomaly, 3 had cavernous malformations, 2 had evidence of dural arteriovenous fistula, 7 had increased white matter signal abnormalities relative to age (31.8%), 4 had prominent perivascular spaces, cerebellar tonsillar ectopia was present in 7 of 21 (33.3%), and 1 had cortical malformation. Conclusions:It is important to recognize that in addition to Lhermitte-Duclos disease, other intracranial findings such as multiple venous anomalies, meningiomas, greater than expected white matter signal abnormality, prominent perivascular spaces, and cortical malformations may warrant a thorough evaluation for Cowden syndrome in the appropriate clinical setting. We further recommend that this broader spectrum of intracranial abnormalities be considered for addition to the Cowden syndrome diagnostic criteria at the time of next revision.

SUBMITTER: Dhamija R

PROVIDER: S-EPMC6075984 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

Dhamija Radhika R Weindling Steven M SM Porter Alyx B AB Hu Leland S LS Wood Christopher P CP Hoxworth Joseph M JM

Neurology. Clinical practice 20180601 3

<h4>Background</h4>We retrospectively reviewed the neuroimaging findings of patients with Cowden syndrome and determined their frequency in a single cohort.<h4>Methods</h4>Electronic medical records were queried from January 1999 to January 2017 to identify patients who fit the clinical criteria for diagnosis of Cowden syndrome with or without a documented <i>PTEN</i> mutation. Patients with brain MRI examinations were then identified.<h4>Results</h4>We retrospectively identified 44 patients wit ...[more]

PMID: 30105160

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Project description:Since December 2019, the coronavirus disease (COVID-19) pandemic has catapulted the world into a marked health crisis, with over 29 million cases and >930,000 deaths. To better detect affected individuals at an early stage and stop disease progression to an advanced stage, several studies have been conducted to identify the clinical, biological, and radiological characteristics of COVID-19. This study aimed to enrich the literature by critically analyzing the clinical and biological characteristics of 134 patients from the North African Mediterranean region, including numerous genetic, epigenetic, and environmental factors that may influence disease evolution. This single-center retrospective study included all patients older than 18 years confirmed to have COVID-19 and hospitalized at the Cheikh Khalifa University Hospital affiliated with Mohammed VI University of Health Sciences, Casablanca, Morocco. Clinical, demographic, and biological data were analyzed in a cohort of severe and non-severe patients. Univariate analysis was performed to identify factors predictive of severity. There were 134 patients: the median age was 53 years, and 54.5% were male. Of these, 89 had mild to moderate disease; 45 had severe to critical disease, of which 14 died and 31 survived. Advanced age, presence of comorbidities, male sex, and infection in ethnic or family groups were risk factors for progression to severe disease. The presence of abnormalities in the following parameters were strongly associated with progression to severe disease: white blood cells (WBC), neutrophils, lymphocytes, C-reactive protein (CRP), procalcitonin, D-dimers, lactate dehydrogenase (LDH), ferritin, creatinine, aspartate aminotransferase (ASAT), and alanine aminotransferase (ALAT) during both admission and hospitalization. Based on these results and an extensive literature review, we recommend that clinicians closely monitor the biological parameters identified herein and perform immunological and genetic studies.

Dataset Information

Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

Publications

Neuroimaging abnormalities in patients with Cowden syndrome: Retrospective single-center study.

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