Logo American Journal of Case Reports

Call: 1.631.629.4328
Mon-Fri 10 am - 2 pm EST

Contact Us

Logo American Journal of Case Reports Logo American Journal of Case Reports Logo American Journal of Case Reports

26 April 2011

Maffucci’s syndrome: A misdiagnosed 9-year-old female patient

Seyed Reza Raiskarami, Hanieh Jafarieh, Reza Shekarriz Foomani, Yahya Aghighi

DOI: 10.12659/AJCR.881747

Am J Case Rep 2011; 12:35-38

Abstract

Abstract
Background: Maffucci’s syndrome (MS) is a congenital non-hereditary mesodermal dysplasia characterized by numerous mesenchymal neoplasias in the form of enchondromas with secondary joint deformities and multiple soft tissue hemangiomas.
Case Report: In this report we present the case of a 9-year-old female with multiple bone deformities, subsequent inability to walk, multiple enchondromas, and huge enlarging hemangioma on the occiput oral cavity (dorsum of tongue) and her eyelid, limiting her visual field. Malignant changes are almost common in this syndrome, but there was no evidence of malignant changes in our case. The association of these recognizable features, such as multiple enchondromas and hemangioma, together may suggest Maffucci syndrome. In our case, other diagnosis such as metabolic diseases and orthopedic disability postponed the main diagnosis.
Conclusions: Management of Maffucci’s syndrome aims at the relief of symptoms and early detection of malignancies.

Keywords: Maffucci’s syndrome, enchondroma

Add Comment 0 Comments

In Press

09 Jan 2024 : Case report  Saudi Arabia

Neurotrophic Keratopathy in Marfan Syndrome Patient After Micropulse Transscleral Cyclophotocoagulation: A ...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942538  

0:00

03 Feb 2024 : Case report  USA

Definitive Closure Using an Ovine Reinforced Tissue Matrix in Contaminated Penetrating Abdominal Trauma

Am J Case Rep In Press; DOI: 10.12659/AJCR.943188  

10 Jan 2024 : Case report  China (mainland)

Herpes Simplex Keratitis as a Complication of Pterygium Surgery

Am J Case Rep In Press; DOI: 10.12659/AJCR.942401  

11 Jan 2024 : Case report  USA

A 40-Year-Old Man with a 7-Year History of Polyarthritis and a Late Diagnosis of Whipple Disease: A Journey...

Am J Case Rep In Press; DOI: 10.12659/AJCR.942896  

Most Viewed Current Articles

10 Jan 2022 : Case report  Germany

A Report on the First 7 Sequential Patients Treated Within the C-Reactive Protein Apheresis in COVID (CACOV...

DOI :10.12659/AJCR.935263

Am J Case Rep 2022; 23:e935263

19 Jul 2022 : Case report  Saudi Arabia

Atlantoaxial Subluxation Secondary to SARS-CoV-2 Infection: A Rare Orthopedic Complication from COVID-19

DOI :10.12659/AJCR.936128

Am J Case Rep 2022; 23:e936128

05 Mar 2022 : Case report  Brazil

Acute Limb Ischemia After Self-Injection of Crushed Morphine Tablets into the Radial Artery: Role of Infrar...

DOI :10.12659/AJCR.935336

Am J Case Rep 2022; 23:e935336

02 Apr 2022 : Case report  Saudi Arabia

Infective Endocarditis Caused by Pseudomonas luteola in a Pediatric Patient. A Case Report and Review of Li...

DOI :10.12659/AJCR.935743

Am J Case Rep 2022; 23:e935743

Your Privacy

We use cookies to ensure the functionality of our website, to personalize content and advertising, to provide social media features, and to analyze our traffic. If you allow us to do so, we also inform our social media, advertising and analysis partners about your use of our website, You can decise for yourself which categories you you want to deny or allow. Please note that based on your settings not all functionalities of the site are available. View our privacy policy.

American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923