Related Experiment Video
Updated: Nov 2, 2025

A Metadata Extraction Approach for Clinical Case Reports to Enable Advanced Understanding of Biomedical Concepts
Published on: September 20, 2018
Rare diagnosis of Melkersson-Rosenthal syndrome in a paediatric patient
Anuradha Pavuluri1,2, Stephanie Smith3, Umesh Narsinghani3,2
1Pediatrics, Medical Center Navicent Health, Macon, Georgia, USA anuradha.pavuluri@atriumhealth.org.
Abstract:
Melkersson-Rosenthal syndrome (MRS) is a rare neurocutaneous syndrome characterised by the triad of recurrent orofacial swelling, facial nerve palsy and fissured tongue. This diagnosis is particularly rare in children. We aim to increase awareness of the syndromic association of these clinical features since most patients present with a monosymptomatic form, reiterating the importance of detailed history and thorough physical examination, for the timely identification of these patients. Not only the recurring of symptoms, but also the association of MRS with other medical conditions, make 'earlier' diagnosis of the Syndrome beneficial. The average delay in diagnosis is 4-9 years. Although most cases resolve without treatment, when treated,steroids are most commonly used. Variable options have been tried for refractory and frequently recurrent cases. We present a case of MRS in a 12-year-old girl, diagnosed 3 years after onset of symptoms. We reviewed updated literature for MRS and associated clinical conditions as well as published treatment options.
Related Concept Videos
Smooth Endoplasmic Reticulum
The ER provides optimal conditions for synthesizing steroid hormones and lipids, such as phospholipids and triglycerides. Traditionally, lipid metabolism was considered to be a smooth ER function. However, there is no direct evidence to prove that rough ER is completely excluded from lipid...
Inborn Errors of Metabolism
Rheumatic Heart Disease II: Clinical Manifestations and Diagnostic Studies

