Intracranial Calcifications in Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED) Syndrome: A Case Report and Literature Review
| Autor: | H. A. M. Kamel, T. Ben-Omran, M. Alkaphoury, Rawia H. Abujarir |
|---|---|
| Rok vydání: | 2015 |
| Předmět: |
Pathology
medicine.medical_specialty business.industry Disease Autoimmune polyendocrinopathy medicine.disease Autoimmune regulator White matter medicine.anatomical_structure Hypoparathyroidism Pediatrics Perinatology and Child Health medicine Radiology Nuclear Medicine and imaging Neurology (clinical) Chronic mucocutaneous candidiasis Intracranial calcification business Calcification |
| Zdroj: | Journal of Pediatric Neuroradiology. :014-018 |
| ISSN: | 1309-6745 1309-6680 |
| DOI: | 10.1055/s-0035-1564661 |
| Popis: | Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED [MIM 240300]), also known as autoimmune polyglandular syndrome type I (APS I), is a rare, debilitating autosomal recessive disease caused by mutations in the autoimmune regulator (AIRE) gene. The clinical spectrum of the disease is variable and includes several autoimmune endocrine and non-endocrine manifestations, which may lead to acute metabolic alterations and eventually life-threatening events. The clinical diagnosis requires the presence of two out of three major criteria; chronic mucocutaneous candidiasis, autoimmune hypoparathyroidism, and autoimmune adrenal failure. Brain calcifications secondary to hypoparathyroidism have been reported in many patients with APECED. These tend to be extensive, bilateral and symmetrical and have characteristic predilection to the basal ganglia. The calcifications may extend to affect the cerebellum and subcortical white matter. The aim of this work is to describe intracranial calcifications in APECED and to report a new feature of pontine calcification expanding the phenotype of this rare condition. |
| Databáze: | OpenAIRE |
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