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Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report.

Metwalley KA, Farghaly HS - J Med Case Rep (2012)

Bottom Line: 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.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 hyperpigmentation of the body.The consequences of delayed diagnosis and treatment are associated with high rates of morbidity and mortality.

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Affiliation: Pediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt. kotb72@yahoo.com.

ABSTRACT

Introduction: 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.

Case presentation: 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 hyperpigmentation of the body. The initial clinical examination revealed generalized symmetrical deep hyperpigmentation of the body as well as hypotonia, normal blood pressure and normal male genitalia. He had low blood glucose and cortisol levels, normal aldosterone and high adrenocorticotropic hormone levels. Based on the above mentioned data, a provisional diagnosis of familial glucocorticoid deficiency was made, which was confirmed by a molecular genetics study. Oral hydrocortisone treatment at a dose of 10 mg/m2/day was started. The child was followed up after two months of treatment; the hyperpigmentation has lessened in comparison with his initial presentation and his blood sugar and cortisol levels were normalized.

Conclusion: Familial glucocorticoid deficiency is a rare, treatable disease that can be easily missed due to nonspecific presentations. The consequences of delayed diagnosis and treatment are associated with high rates of morbidity and mortality.

No MeSH data available.


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Improvement in hyperpigmentation of the lower limbs after treatment.
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Figure 4: Improvement in hyperpigmentation of the lower limbs after treatment.

Mentions: Our patient was seen two months after starting treatment. His general condition was greatly improved and he was able to walk alone. The hyperpigmentation was less in comparison with his initial presentation (Figures 3 and 4), he had gained 1500 g, and his blood sugar and cortisol levels were normalized while the level of ACTH had dropped to 221 pg/mL.


Familial glucocorticoid deficiency presenting with generalized hyperpigmentation in an Egyptian child: a case report.

Metwalley KA, Farghaly HS - J Med Case Rep (2012)

Improvement in hyperpigmentation of the lower limbs after treatment.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC3369203&req=5

Figure 4: Improvement in hyperpigmentation of the lower limbs after treatment.
Mentions: Our patient was seen two months after starting treatment. His general condition was greatly improved and he was able to walk alone. The hyperpigmentation was less in comparison with his initial presentation (Figures 3 and 4), he had gained 1500 g, and his blood sugar and cortisol levels were normalized while the level of ACTH had dropped to 221 pg/mL.

Bottom Line: 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.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 hyperpigmentation of the body.The consequences of delayed diagnosis and treatment are associated with high rates of morbidity and mortality.

View Article: PubMed Central - HTML - PubMed

Affiliation: Pediatric Endocrinology Unit, Department of Pediatrics, Faculty of Medicine, Assiut University, Assiut, Egypt. kotb72@yahoo.com.

ABSTRACT

Introduction: 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.

Case presentation: 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 hyperpigmentation of the body. The initial clinical examination revealed generalized symmetrical deep hyperpigmentation of the body as well as hypotonia, normal blood pressure and normal male genitalia. He had low blood glucose and cortisol levels, normal aldosterone and high adrenocorticotropic hormone levels. Based on the above mentioned data, a provisional diagnosis of familial glucocorticoid deficiency was made, which was confirmed by a molecular genetics study. Oral hydrocortisone treatment at a dose of 10 mg/m2/day was started. The child was followed up after two months of treatment; the hyperpigmentation has lessened in comparison with his initial presentation and his blood sugar and cortisol levels were normalized.

Conclusion: Familial glucocorticoid deficiency is a rare, treatable disease that can be easily missed due to nonspecific presentations. The consequences of delayed diagnosis and treatment are associated with high rates of morbidity and mortality.

No MeSH data available.


Related in: MedlinePlus