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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.

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

Hyperpigmentation of the upper limb before treatment.
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Figure 1: Hyperpigmentation of the upper limb before treatment.

Mentions: After the first few weeks of the baby's life, his mother noticed a generalized black coloration of his skin. His parents also reported that he was darker than his sister and brother. At the ages of 10 and 11 months he had two attacks of a febrile brief generalized tonic-clonic convulsion. The etiology of the convulsions had not been evaluated as the parents did not seek medical advice at that time. On examination, our patient was able to speak only a few words and walk with support. His weight was in the 5th percentile while his length and head circumference were in the 50th percentile. His blood pressure was 90/60 mmHg. Unlike his fair-skinned parents, he had generalized symmetric deep hyperpigmentation of the body, especially of his elbows, knees, hands, feet and buccal mucosa (Figures 1 and 2), as well as hypotonia. He had no dysmorphic features. Examination of his external genitalia revealed a penis of normal length and bilaterally palpable testes in his scrotum. There were no signs of alacrima or achalasia. Other examination findings were unremarkable.


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

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

Hyperpigmentation of the upper limb before treatment.
© Copyright Policy - open-access
Related In: Results  -  Collection

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

Figure 1: Hyperpigmentation of the upper limb before treatment.
Mentions: After the first few weeks of the baby's life, his mother noticed a generalized black coloration of his skin. His parents also reported that he was darker than his sister and brother. At the ages of 10 and 11 months he had two attacks of a febrile brief generalized tonic-clonic convulsion. The etiology of the convulsions had not been evaluated as the parents did not seek medical advice at that time. On examination, our patient was able to speak only a few words and walk with support. His weight was in the 5th percentile while his length and head circumference were in the 50th percentile. His blood pressure was 90/60 mmHg. Unlike his fair-skinned parents, he had generalized symmetric deep hyperpigmentation of the body, especially of his elbows, knees, hands, feet and buccal mucosa (Figures 1 and 2), as well as hypotonia. He had no dysmorphic features. Examination of his external genitalia revealed a penis of normal length and bilaterally palpable testes in his scrotum. There were no signs of alacrima or achalasia. Other examination findings were unremarkable.

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