Zargarbashi Ramin, Pirasteh Monir Najafi, Nami Damirchi Ali, Shahbazi Parmida
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.
Department of Pediatric Orthopedy, Faculty of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
Int J Surg Case Rep. 2023 Sep;110:108658. doi: 10.1016/j.ijscr.2023.108658. Epub 2023 Aug 11.
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.
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).
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.
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.
梅尔克-尼德尔斯综合征（MNS）是一种罕见的骨骼发育不良疾病，会影响骨骼和结缔组织。文献报道的MNS病例少于70例。MNS有多种临床表现，如骨骼畸形、皮质骨硬化、面部异常和泌尿生殖系统症状。
我们报告了一名5岁女孩，她因膝外翻畸形、脊柱后凸侧弯、双侧髋外翻和肱骨皮质不规则而转诊至我们的骨科诊所。基于一些面部和骨骼特征，通过基因评估（细丝蛋白A基因组杂合子）确诊为MNS。
MNS的诊断需要全面的病史、家族史、体格检查和影像学评估。与MNS类似的有骨骼和面部畸形的患者的鉴别诊断包括卡姆拉蒂-恩格尔曼病、胱氨酸尿症、加洛韦-莫瓦特综合征、儒贝尔综合征和黏多糖贮积症。对于无致命情况的骨骼畸形MNS患者，治疗可以是保守的，但在某些情况下可能需要进行矫正手术。
MNS是一种罕见综合征，具有肢体和脊柱畸形等常见临床表现。对于到骨科诊所就诊的任何有肢体和骨骼畸形的患者，进行仔细检查很重要，因为该疾病可能有一些致命的临床影响。
