Publications by authors named "Ana de Carvalho Vaz"
Article Synopsis
- Adrenoleukodystrophy (X-ALD) is a rare genetic disorder primarily affecting males, caused by mutations that impair the transportation of very long chain fatty acids, leading to adrenal insufficiency and neurological damage.
- In a case series studied at a Portuguese hospital, four male patients, diagnosed on average at 5 years, showed diverse clinical presentations, with 75% having isolated adrenal insufficiency and 25% exhibiting cerebral adrenoleukodystrophy (CALD).
- Early diagnosis through screening for elevated VLCFA levels and genetic testing is crucial for better treatment outcomes and facilitates options like genetic counseling and family planning.
Background and objective Pediatric thyroid disease requiring surgery is rare. Thyroid nodules are a frequent indication for surgery and are mostly benign. However, up to 25% of cases can be malignant.
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