3 citations
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April 2017 in “Medicine” This case report describes a rare instance of pediatric idiopathic hypoparathyroidism in an 11-year-old Saudi boy, characterized by extensive cranial calcifications beyond the basal ganglia, with no other neurological abnormalities.
9 citations
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February 2012 in “Clinical Neurology and Neurosurgery” In this paper, three APS patients were followed over time, showing that the diagnosis and course of autoimmune polyglandular syndrome can evolve, highlighting the need for careful monitoring and potential re-evaluation.
September 2024 in “Cermin Dunia Kedokteran” This research discusses Fahr syndrome, highlighting its association with abnormal brain calcifications and varied clinical symptoms in young to middle-aged adults. Diagnosis involves specific criteria and CT scans, but no specific treatment exists; therapy focuses on managing symptoms and underlying conditions.
July 2005 in “The American Journal of Human Genetics” The AR gene is linked to male-pattern baldness, TNFSF4 to heart disease, SLC19A3 to BBGD, MCT8 to a syndrome, and segmental duplications to genetic variation.
1 citations
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January 2019 in “Medical principles and practice” This case report describes a 17-year-old boy with alopecia areata who had vitamin D deficiency and an incidentally discovered adrenal ganglioneuroma, with alopecia receding after vitamin D supplementation but later recurring despite normalized vitamin D and no tumor return.