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An 11-year-old boy with dark skin, swallowing difficulty and absence of tears.

Mallick D, Thapa R - Indian J Dermatol (2009)

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, The Institute of Child Health, Kolkata, West Bengal, India. dr_dkm@yahoo.co.in

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An 11-year-old boy born to nonconsanguineous parents was initially seen for complaint of progressive darkening of his body along with blackish pigmentation of tongue for the last 4 years, and easy fatigability with increasing weakness of the limbs for 2 years... The basal serum cortisol level from a blood sample taken at 8 am was < 10 mg/dL (normal >20 mg/dL)... Prolonged adrenocorticotropic hormone (ACTH) stimulation test (1 mg Synacthen depot IM daily for 3 days) confirmed the decreased adrenal reserves... It is an autosomal recessive disorder characterized by alacrima, achalasia and ACTH insensitivity... Three of these individuals also had defective tear production, leading the authors to speculate that the combination of achalasia, adrenal deficiency and alacrima represented an inherited familial disorder... Following this, a number of authors published similar reports that have helped to define the primary and associated features of this syndrome... Several authors published descriptions of a more global autonomic disturbance associated with the original Allgrove triad, leading one author to suggest the name “4A” syndrome (adrenal insufficiency, achalasia of the cardia, alacrima, autonomic abnormalities)... Differentials of Allgrove's syndrome include the following: Familial glucocorticoid deficiency (FGD), which has adrenal insufficiency as the only manifestation... The gene for ACTH receptor, which is responsible for FGD, has been found on 18p11.2... Adrenoleukodystrophy (ALD), an X-linked recessive white matter disorder, causes impaired glucocorticoid production with minimal or no mineralocorticoid production.

No MeSH data available.


Barium esophagogram of the patient
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Figure 0004: Barium esophagogram of the patient

Mentions: The blood glucose, renal function tests, liver function tests and the complete blood count were normal; besides blood hemoglobin, which was 9.8 g/dL. Serum sodium and potassium were 141 mEq/L and 5.4 mEq/L respectively. The basal serum cortisol level from a blood sample taken at 8 am was < 10 mg/dL (normal >20 mg/dL). Prolonged adrenocorticotropic hormone (ACTH) stimulation test (1 mg Synacthen depot IM daily for 3 days) confirmed the decreased adrenal reserves. A barium esophagogram was performed, which is depicted in Figure 4. Schirmer's test, using Whatman no. 41 filter paper, for assessment of total (basic + reflex) tear secretion showed a value of < 5 mm.


An 11-year-old boy with dark skin, swallowing difficulty and absence of tears.

Mallick D, Thapa R - Indian J Dermatol (2009)

Barium esophagogram of the patient
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC2800890&req=5

Figure 0004: Barium esophagogram of the patient
Mentions: The blood glucose, renal function tests, liver function tests and the complete blood count were normal; besides blood hemoglobin, which was 9.8 g/dL. Serum sodium and potassium were 141 mEq/L and 5.4 mEq/L respectively. The basal serum cortisol level from a blood sample taken at 8 am was < 10 mg/dL (normal >20 mg/dL). Prolonged adrenocorticotropic hormone (ACTH) stimulation test (1 mg Synacthen depot IM daily for 3 days) confirmed the decreased adrenal reserves. A barium esophagogram was performed, which is depicted in Figure 4. Schirmer's test, using Whatman no. 41 filter paper, for assessment of total (basic + reflex) tear secretion showed a value of < 5 mm.

View Article: PubMed Central - PubMed

Affiliation: Department of Pediatrics, The Institute of Child Health, Kolkata, West Bengal, India. dr_dkm@yahoo.co.in

AUTOMATICALLY GENERATED EXCERPT
Please rate it.

An 11-year-old boy born to nonconsanguineous parents was initially seen for complaint of progressive darkening of his body along with blackish pigmentation of tongue for the last 4 years, and easy fatigability with increasing weakness of the limbs for 2 years... The basal serum cortisol level from a blood sample taken at 8 am was < 10 mg/dL (normal >20 mg/dL)... Prolonged adrenocorticotropic hormone (ACTH) stimulation test (1 mg Synacthen depot IM daily for 3 days) confirmed the decreased adrenal reserves... It is an autosomal recessive disorder characterized by alacrima, achalasia and ACTH insensitivity... Three of these individuals also had defective tear production, leading the authors to speculate that the combination of achalasia, adrenal deficiency and alacrima represented an inherited familial disorder... Following this, a number of authors published similar reports that have helped to define the primary and associated features of this syndrome... Several authors published descriptions of a more global autonomic disturbance associated with the original Allgrove triad, leading one author to suggest the name “4A” syndrome (adrenal insufficiency, achalasia of the cardia, alacrima, autonomic abnormalities)... Differentials of Allgrove's syndrome include the following: Familial glucocorticoid deficiency (FGD), which has adrenal insufficiency as the only manifestation... The gene for ACTH receptor, which is responsible for FGD, has been found on 18p11.2... Adrenoleukodystrophy (ALD), an X-linked recessive white matter disorder, causes impaired glucocorticoid production with minimal or no mineralocorticoid production.

No MeSH data available.