Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology

Çiğdem Seher KASAPKARA1, Meltem AKÇABOY2, Fehime KARA EROĞLU3, Betül Emine DERİNKUYU4

1Department of Pediatric Metabolism and Nutrition, Dr. Sami Ulus Maternity and Children’s Health and Diseases Research and Education Hospital, Ankara, Turkey
2Department of Pediatrics, Dr. Sami Ulus Maternity and Children’s Health and Diseases Research and Education Hospital, Ankara, Turkey
3Department of Pediatric Nephrology, Dr. Sami Ulus Maternity and Children’s Health and Diseases Research and Education Hospital, Ankara, Turkey
4Department of Pediatric Radiology, Dr. Sami Ulus Maternity and Children’s Health and Diseases Research and Education Hospital, Ankara, Turkey

Keywords: Differential diagnosis; joint stiffness; mucolipidosis; pediatric rheumatology

Abstract

Mucolipidoses are metabolic disorders with autosomal recessive inheritance caused by deficiency of N-acetylglucosamine- 1-phosphotransferase leading to accumulation of glycosaminoglycans and sphingolipids intracellularly. The differential diagnosis of mucolipidosis II or III is based on the age of onset, clinical findings and degree of severity. In this article, we present four pediatric patients with mucolipidosis III or pseudo-Hurler polydystrophy who admitted to our hospital with joint stiffness. They were from consanguineous families with characteristic radiographic findings. The joints were painless and the rheumatologic evaluation and inflammation markers were negative. Mucolipidosis is a rare disease in pediatric patients to remember in differential diagnosis of joint stiffness.

Conflict of Interest

The authors declared no conflicts of interest with respect to the authorship and/or publication of this article.

Financial Disclosure

The authors received no financial support for the research and/or authorship of this article.