Allgrove Syndrome with Absent Adrenal Gland in a Child: A Case Report
Year: 2025
Type: article
Study design: Case Report
Abstract: Background: Allgrove syndrome is an autosomal recessive disorder caused by mutation in AAAS gene and characterized by alacrimia, achalasia, and adrenal insufficiency. Subtle clinical features may be the only findings and need good workup. Clinical Description: A 5-year-old boy, product of third-degree consanguineous marriage, presented with diffuse hyperpigmentation of the skin for the past 2 years, along with difficulty in swallowing and absence of tears. He was conscious, with average built, stable vitals, and a normal neurological examination. There was marked hyperpigmentation of the skin, lips, and nails. Rest of the examination was noncontributory. Management and Outcome: Investigations revealed normal hemogram, renal and liver functions with normal electrolytes. There was marked cortisol deficiency and high adrenocorticotrophic hormone with low normal serum aldosterone. Barium studies suggested achalasia, confirmed on esophagoscopy and manometry. The contrast-enhanced computed tomography of the abdomen revealed a complete absence of adrenals. Clinical exome sequencing revealed a pathogenic homozygous missense mutation in AAAS gene confirming the diagnosis of Allgrove syndrome. The child was started on oral hydrocortisone supplementation with low-dose fludrocortisone, along with lubricating eye drops. Endoscopic myotomy has been planned for achalasia. Conclusion: Allgrove syndrome, a rare disorder, needs keen clinical suspicion to detect and prevent devastating complications.
Source: Indian Pediatrics Case Reports
Authors: Medha Mittal, Ishani Agrawal, Anuradha Rai, Gulab Singh, Priyanka Prasad, Parveen Gulati
Institution: Chacha Nehru Bal Chikitsalaya
Language: English
Subfield: Endocrinology, Diabetes and Metabolism
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4407561561