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Related Experiment Videos

[Allgrove's syndrome].

S Chiheb1, Z Slaoui, F Nejjam

  • 1Service de Dermatologie, CHU Ibn Rochd Casablanca, Maroc.

Annales De Dermatologie Et De Venereologie
|March 23, 2002
PubMed
Summary
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Triple A syndrome, a rare genetic disorder, presents with achalasia, alacrima, and adrenal insufficiency. This case highlights familial adrenal insufficiency with hyperpigmentation and unique symptoms like plantar keratoderma in a child.

Area of Science:

  • Endocrinology
  • Genetics
  • Pediatrics

Background:

  • Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disorder characterized by the triad of achalasia, alacrima, and adrenal insufficiency.
  • Fewer than 70 cases have been documented globally, making it an exceptionally rare condition.

Observation:

  • A 2-year-old boy with a history of vomiting, diarrhea, mucosal erosions, and alacrima presented with generalized hyperpigmentation.
  • Family history revealed two siblings who died from hypoglycemia with similar symptoms.
  • Clinical findings included severe hypocortisolism, elevated ACTH, adrenal hypoplasia, achalasia, and alacrima. Plantar hyperkeratosis was noted at age 3.

Findings:

  • The patient exhibited classic features of Triple A syndrome, including adrenal insufficiency, alacrima, and achalasia.

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  • Unusual manifestations included significant hyperpigmentation and the development of plantar hyperkeratosis.
  • The absence of neurological abnormalities was noted, contrasting with some reported cases.

    • Implications:

    • This case underscores the phenotypic variability of Triple A syndrome, emphasizing the importance of early diagnosis and management.
    • The presence of plantar keratoderma and lack of neurological involvement offer new insights into the syndrome's spectrum.
    • Genetic counseling and long-term monitoring are crucial for affected families due to the hereditary nature and potential complications.