A Rare Case of Allgrove Syndrome

Allgrove syndrome is a rare, autosomal recessive disorder, with fewer than 100 reported cases. It is characterized by three primary features – achalasia, alacrimia, and ACTH-resistant adrenal insufficiency. This case reports the first documented case of Allgrove syndrome in Coastal Karnataka.

A 17-year-old boy complained of difficulty swallowing solid and liquid foods. He had a two-year history of weight loss and weakness. The patient had also developed widespread hyperpigmentation over the past four years. His parents reported that he had no tears while crying since childhood.

Upon examination, there was generalized hyperpigmentation – including the lips, palms, soles, and buccal mucosa. His BMI was 13.2 kg/m2; his blood pressure was 100/60 mmHg with no postural drop. The Schirmer's test confirmed dry eyes due to alacrimia. 

Laboratory tests revealed a morning serum cortisol level of 1.35 mcg/dl and an ACTH level of 478 pg/ml. Barium swallow imaging indicated features consistent with achalasia cardia, subsequently confirmed by esophageal manometry and upper gastrointestinal endoscopy.

The patient underwent Heller's Cardiomyotomy with steroid coverage. Following the procedure, he was started on a maintenance dose of oral hydrocortisone (15 mg/d). 

A two-month follow-up showed significant improvement in symptoms, a reduction in hyperpigmentation, and a weight gain of 3.5 kg.

Allgrove syndrome is frequently diagnosed late because most patients do not show all three cardinal features at presentation. Given its variable presentation, Allgrove syndrome is often misdiagnosed. Therefore, healthcare providers should consider this condition even in the presence of just one or two cardinal features.

Source: Naseer A, Salih HA, Bhat S, Honnani SS.Indian Journal of Pediatrics. 2023 Sep 16:1-.