Background: Adrenal insufficiency (AI) is an event caused by an inadequate secretion or action of adrenal hormones. It can be classified as primary (1 degree) and secondary (2 degree). AI may result in severe morbidity and mortality when undiagnosed or ineffectively treated.
View Article and Find Full Text PDFThree siblings with a family history of consanguinity presented with short stature and two of the patients had leg deformity. None of them experienced ocular or renal symptoms at presentation. After the pediatricians found characteristics of Fanconi syndrome, an ophthalmic consultation was requested Ocular examination revealed typical cystine crystals deposited in the cornea and conjunctivae.
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