Behçet's Syndrome in a Child: A Case Report and a Review of Literature

TL;DR

A case report describes Behçet's syndrome in an eight-year-old girl, emphasizing the challenges of diagnosing this rare condition in children.

Contribution

This paper presents a rare pediatric case of Behçet's syndrome and highlights the diagnostic and management challenges in children.

Findings

Behçet's syndrome in children is rare and often presents with non-specific symptoms, making early diagnosis difficult.

HLA-B51 positivity was confirmed in the patient, supporting the genetic component of the disease.

Treatment with colchicine led to complete healing of the ulcer after three months.

Abstract

Behçet's syndrome is a complex chronic inflammatory disorder characterized by widespread inflammation of the blood vessels, affecting various systems in the body. Although its exact cause remains unknown, genetic predisposition, particularly HLA-B51/B5 gene carriage, and environmental factors are believed to play roles. The disease typically manifests in individuals aged 20-40 years, with an uncommon occurrence in children and elderly individuals. Key clinical manifestations include recurrent oral and genital ulcers, skin lesions, ocular involvement, positive pathergy test results, and other systemic symptoms. Eye involvement is common and can lead to severe visual impairment if left untreated. This diversity of Behçet's disease (BD) presentations and complications emphasizes the importance of early recognition and management.

An eight-year-old girl presented with a deep painful ulcer in the mouth and a history of chronic constipation, severe joint pain, and recurrent mouth ulcers. Initial examination revealed an ulcer scar on the tongue and a deep ulcer on the left side of the mucobuccal fold. The patient was diagnosed with a recurrent major aphthous ulcer and prescribed Predo pediatric syrup as a mouthwash and paracetamol to relieve the pain. A biopsy was recommended by her physician to be done under general anesthesia and to rule out malignancy; the biopsy result revealed the presence of a benign squamous epithelium with reactive changes. The genetic result revealed HLA B*51 positivity and normal immunoglobulin levels. Treatment with colchicine led to the complete healing of the ulcer with scar formation after three months.

This case report highlights the unique presentation of Behçet's syndrome in children and the challenges associated with its diagnosis. It emphasizes the importance of the early recognition and prompt management of BD in the pediatric population, in which disease progression can be more severe than in adult-onset cases. This case provides valuable insights into the clinical features of and diagnostic approach to Behçet's syndrome in children.

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