Joint Stiffness Leads to the Diagnosis of a Rare Disease

Joint Stiffness Leads to the Diagnosis of a Rare Disease Publisher

Esslami GG^{1, 2, 3} ; Movahedi N³ ; Mehdizadeh M⁴ ; Ziaee V^{1, 3, 5}

Show Affiliations

1. Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran
2. Department of Family Medicine, Ziaeian Hospital, Tehran University of Medical Sciences, Tehran, Iran
3. Childrenâ€™s Medical Center, Pediatrics Center of Excellence, Tehran, Iran
4. Department of Radiology, Tehran University of Medical Science, Tehran, Iran
5. Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran University of Medical Science, Tehran, Iran

Source: Iranian Journal of Pediatrics Published:2022

Abstract

Introduction: A 6-year-old boy was referred to our hospital because of the stiffness of both knees, which had commenced two years ago and gradually progressed to both hips, ankles, elbows, fingers, and toes. He occasionally had arthralgia with no complaint of joint swelling. He had a long face, a prominent forehead and chin, and a short neck. There was a limitation in the range of motion in all appendicular joints with stiffness and deformity. Case Presentation: Skeletal survey images revealed central beaking and a bullet shape appearance in the cervical and lumbar ver-tebra, tapering of iliac wings, deformity of the femoral head, and short sacral length. A +3 glycosaminoglycan (GAG) excretion was detected in the urine test, but genetic analysis revealed Mucolipidosis type III. Conclusions: The diagnosis of metabolic diseases should be considered whenever there is joint stiffness without any evidence of inflammation. Mucopolysaccharidoses and Mucolipidoses are progressive storage disorders with many clinical and radiological characteristics. © 2022, Author(s).

Style	Citing Format
MLA	Esslami GG, et al.. "Joint Stiffness Leads to the Diagnosis of a Rare Disease." Iranian Journal of Pediatrics, vol. 32, no. 5, 2022, pp. -.
APA	Esslami GG, Movahedi N, Mehdizadeh M, Ziaee V (2022). Joint Stiffness Leads to the Diagnosis of a Rare Disease. Iranian Journal of Pediatrics, 32(5), -.
Chicago	Esslami GG, Movahedi N, Mehdizadeh M, Ziaee V. "Joint Stiffness Leads to the Diagnosis of a Rare Disease." Iranian Journal of Pediatrics 32, no. 5 (2022): -.
Harvard	Esslami GG et al. (2022) 'Joint Stiffness Leads to the Diagnosis of a Rare Disease', Iranian Journal of Pediatrics, 32(5), pp. -.
Vancouver	Esslami GG, Movahedi N, Mehdizadeh M, Ziaee V. Joint Stiffness Leads to the Diagnosis of a Rare Disease. Iranian Journal of Pediatrics. 2022;32(5):-.
BibTex	@article{ author = {Esslami GG and Movahedi N and Mehdizadeh M and Ziaee V}, title = {Joint Stiffness Leads to the Diagnosis of a Rare Disease}, journal = {Iranian Journal of Pediatrics}, volume = {32}, number = {5}, pages = {-}, year = {2022} }
RIS	TY - JOUR AU - Esslami GG AU - Movahedi N AU - Mehdizadeh M AU - Ziaee V TI - Joint Stiffness Leads to the Diagnosis of a Rare Disease JO - Iranian Journal of Pediatrics VL - 32 IS - 5 SP - EP - PY - 2022 ER -

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