biostudies-literatureUnknown6Metwalley KA<h4>Introduction</h4>Familial glucocorticoid deficiency, or hereditary unresponsiveness to adrenocorticotropic hormone, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Here, we report the case of an 18-month-old Egyptian boy with familial glucocorticoid deficiency.<h4>Case presentation</h4>An 18-month-old Egyptian boy was referred to our institution for evaluation of generalized hyperpigmentation of the body associated with recurrent convulsions; one of his siblings, who had died at the age of nine months, also had generalized hyperJournal of medical case reports110https://www.ebi.ac.uk/biostudies/studies/S-EPMC3369203biostudies-literatureFamilial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report.PMC3369203Farghaly HSMetwalley KAfalseFamilial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report.<h4>Introduction</h4>Familial glucocorticoid deficiency, or hereditary unresponsiveness to adrenocorticotropic hormone, is a rare autosomal recessive disease characterized by glucocorticoid deficiency in the absence of mineralocorticoid deficiency. It may present in infancy or early childhood with hyperpigmentation, failure to thrive, recurrent infections, hypoglycemic attacks and convulsions that may result in coma or death. Here, we report the case of an 18-month-old Egyptian boy with familial glucocorticoid deficiency.<h4>Case presentation</h4>An 18-month-old Egyptian boy was referred to our institution for evaluation of generalized hyperpigmentation of the body associated with recurrent convulsions; one of his siblings, who had died at the age of nine months, also had generalized hyper2012-01-01T00:00:00Z2012 Apr2025-04-25T20:24:59.874Z2019-03-27T00:54:14ZS-EPMC33692032250717610.1186/1752-1947-6-110