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Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology.
Arch Rheumatol 2018; 33(1):93-98AR

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.

Authors+Show Affiliations

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

Pub Type(s)

Case Reports

Language

eng

PubMed ID

29900995

Citation

Kasapkara, Çiğdem Seher, et al. "Mucolipidosis Type III: a Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology." Archives of Rheumatology, vol. 33, no. 1, 2018, pp. 93-98.
Kasapkara ÇS, Akçaboy M, Kara Eroğlu F, et al. Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. Arch Rheumatol. 2018;33(1):93-98.
Kasapkara, Ç. S., Akçaboy, M., Kara Eroğlu, F., & Derinkuyu, B. E. (2018). Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. Archives of Rheumatology, 33(1), pp. 93-98. doi:10.5606/ArchRheumatol.2018.6262.
Kasapkara ÇS, et al. Mucolipidosis Type III: a Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. Arch Rheumatol. 2018;33(1):93-98. PubMed PMID: 29900995.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mucolipidosis Type III: A Rare Disease in Differential Diagnosis of Joint Stiffness in Pediatric Rheumatology. AU - Kasapkara,Çiğdem Seher, AU - Akçaboy,Meltem, AU - Kara Eroğlu,Fehime, AU - Derinkuyu,Betül Emine, Y1 - 2017/05/25/ PY - 2016/11/01/received PY - 2017/03/23/accepted PY - 2018/6/15/entrez PY - 2018/6/15/pubmed PY - 2018/6/15/medline KW - Differential diagnosis; joint stiffness; mucolipidosis; pediatric rheumatology SP - 93 EP - 98 JF - Archives of rheumatology JO - Arch Rheumatol VL - 33 IS - 1 N2 - 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. SN - 2148-5046 UR - https://www.unboundmedicine.com/medline/citation/29900995/Mucolipidosis_Type_III:_A_Rare_Disease_in_Differential_Diagnosis_of_Joint_Stiffness_in_Pediatric_Rheumatology L2 - https://www.ncbi.nlm.nih.gov/pmc/articles/pmid/29900995/ DB - PRIME DP - Unbound Medicine ER -