A new case of Melnick-Needles syndrome with skeletal manifestations: A case report.

Autor:	Zargarbashi R; Department of Pediatric Orthopedy, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran; Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran., Pirasteh MN; Department of Pediatric Orthopedy, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran. Electronic address: Monir.pirasteh@gmail.com., Nami Damirchi A; Department of Pediatric Orthopedy, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran., Shahbazi P; Orthopedic Department, Orthopedic Surgery Research Center (OSRC), Sina Hospital, Tehran University of Medical Sciences, Tehran, Iran.
Jazyk:	angličtina
Zdroj:	International journal of surgery case reports [Int J Surg Case Rep] 2023 Sep; Vol. 110, pp. 108658. Date of Electronic Publication: 2023 Aug 11.
DOI:	10.1016/j.ijscr.2023.108658
Abstrakt:	Introduction and Importance: Melnick-Needles syndrome (MNS) is a rare skeletal dysplasia that affects skeletal and connective tissue. Less than 70 cases of MNS reported in the literature. MNS had various clinical manifestations such as skeletal deformity, cortical bony sclerosis, facial abnormality, and urogenital symptoms. Case Presentation: We presented a 5-year-old girl who referred to our orthopedic clinic with knee valgus deformity, spinal kyphoscoliosis, bilateral coxa valga, and humerus cortical irregularity. Based on some facial and skeletal feature, MNS was confirmed with genetic evaluation (heterozygote Filamin A genome). Clinical Discussion: The diagnosis of MNS requires a thorough medical and family history, physical examination, and radiographic evaluation. Differential diagnoses for patients with skeletal and facial deformities like MNS include Camurati-Engelmann disease, cystinuria, Galloway-Mowat syndrome, Joubert syndrome, and mucopolysaccharidosis. Treatment for MNS patients with bony deformities without lethal conditions can be conservative, but corrective surgery may be necessary in some cases. Conclusions: MNS was a rare syndrome with common clinical manifestations such as limb and spine deformity. It is important to conduct a careful examination of any patient who presents with limb and skeletal deformity to the orthopedic clinic, as the disease may have some lethal clinical implications. Competing Interests: Declaration of competing interest All authors declare that there were no competing interests for this study. (Copyright © 2023 The Authors. Published by Elsevier Ltd.. All rights reserved.)
Databáze:	MEDLINE
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