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OBJECTIVE: Spinal extradural arachnoid cysts (SEDC) are rare primary spinal lesions, accounting for less than 1% of all spinal epidural lesions. The literature contains only case reports of this pathology, and treatment remains controversial due to its rarity. Major reported SEDC cases are caused by leaking out of cerebrospinal fluid through a dural defect in the thecal sac forming an extradural cyst. Other reports describe non-communicating SEDC cases where the dural defect was not identified. We report a literature review on SEDC and the case of a 53 yearold female who presented with type IA extradural cyst with subarachnoid space communication. METHODS: Literature review, preoperative imaging and surgical technique. RESULTS: The extradural cyst was excised completely and the dural defect was repaired. After surgical decompression, neurological symptoms gradually recovered. CONCLUSIONS: The extradural arachnoid cyst is an uncommon entity. Preoperative imaging is one of the determining elements in orienting the therapeutic management of the SEDCs. The choice of the surgical technique must be the least invasive in order to avoid postoperative complications. Subtotal or complete excision of the cyst, followed by obliteration of the communication stalk and repair of the dural defect is the gold standard treatment.
Assuntos
Cistos Aracnóideos , Doenças da Medula Espinal , Feminino , Humanos , Pessoa de Meia-Idade , Cistos Aracnóideos/diagnóstico por imagem , Cistos Aracnóideos/cirurgia , Cistos Aracnóideos/complicações , Resultado do Tratamento , Doenças da Medula Espinal/diagnóstico por imagem , Doenças da Medula Espinal/cirurgia , Doenças da Medula Espinal/complicações , Descompressão Cirúrgica , Espaço Subaracnóideo/cirurgiaRESUMO
BACKGROUND: Spondyloepiphyseal dysplasia congenita is an autosomal dominant cartilaginous dysplasia characterized by short trunk, abnormal epiphysis, and flattened vertebral body. Skeletal features of SEDC are present at birth and evolve over time. Other features of SEDC include myopia and/or retinal degeneration with retinal detachment and cleft palate. A mutation in the COL2A1 gene located in 12q13.11 is considered as one of the important causes of SEDC. In 2016, Barat-Houari et al. reported a large number of COL2A1 mutations. Among them, a non-synonymous mutation in COL2A1 exon 37, c.2437G>A (p. Gly813Arg), has been reported to cause SEDC in only one patient from France so far. METHODS: We followed up a patient with SEDC phenotype and his family members. The clinical manifestations, physical examination and imaging examination, including X-ray, CT and MRI, were recorded. The whole-exome sequencing was used to detect the patients' genes, and the pathogenic genes were screened out by comparing with many databases. RESULTS: We report a Chinese patient with SEDC phenotype characterized by short trunk, abnormal epiphysis, flattened vertebral body, narrow intervertebral space, dysplasia of the odontoid process, chicken chest, scoliosis, hip and knee dysplasia, and joint hypertrophy. Gene sequencing analysis showed that the patient had a heterozygous mutation (c.2437G>A; p. Gly813Arg) in the COL2A1 gene. No COL2A1 mutation or SEDC phenotype was observed in his family members. This is the first report of SEDC caused by this mutation in an East Asian family. CONCLUSION: This report provides typical clinical, imaging, and genetic evidence for SEDC, confirming that a de novo mutation in the COL2A1 gene, c.2437G>A (p. Gly813Arg), causes SEDC in Chinese population.
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Povo Asiático/genética , Colágeno Tipo II/genética , Mutação/genética , Osteocondrodisplasias/congênito , Adulto , Sequência de Bases , Vértebras Cervicais/diagnóstico por imagem , China , Descompressão Cirúrgica , Família , Feminino , Humanos , Imageamento por Ressonância Magnética , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Osteocondrodisplasias/cirurgia , Linhagem , Controle de Qualidade , Sequenciamento do ExomaRESUMO
PURPOSE: To present three identified novel COL2A1 mutations causing spondyloepiphyseal dysplasia congenita (SEDC) in three unrelated Chinese families, and perform analysis regarding the clinical and genetic features of SEDC in the Chinese population through assessment of the literature. METHODS: Medical history, physical examination, radiographic and laboratory tests were obtained from three Chinese clinically diagnosed SEDC patients. PCR technique and direct nucleotide sequencing were conducted to identify mutations in the COL2A1 gene. The protein functions of all the missense mutations were predicted by SIFT and Polyphen-2. Contrast analysis of Chinese SEDC cases were performed through the literature retrieval of the HGMD BIOBASE and PubMed database. RESULTS: Three novel heterozygous missense mutations (Gly537Asp, Gly909Ser, and Gly1149Val) in the COL2A1 gene were detected in this study. Literature review discovered a total of 15 COL2A1 mutations in Chinese SEDC patients. We analyzed the clinical features, mutation characteristics and explored the genotype-phenotype correlation of these Chinese SEDC cases. CONCLUSIONS: Our study contributed to the further expansion of the COL2A1 mutation spectrum and provided more information concerning SEDC in the Chinese population through literature review.
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Povo Asiático/genética , Colágeno Tipo II/genética , Mutação de Sentido Incorreto , Osteocondrodisplasias/congênito , Adolescente , Criança , Feminino , Estudos de Associação Genética , Humanos , Masculino , Osteocondrodisplasias/genética , Adulto JovemRESUMO
Type 2 collagen disorders encompass a diverse group of skeletal dysplasias that are commonly associated with orthopedic, ocular, and hearing problems. However, the frequency of many clinical features has never been determined. We retrospectively investigated the clinical, radiological, and genotypic data in a group of 93 patients with molecularly confirmed SEDC or a related disorder. The majority of the patients (80/93) had short stature, with radiological features of SEDC (n = 64), others having SEMD (n = 5), Kniest dysplasia (n = 7), spondyloperipheral dysplasia (n = 2), or Torrance-like dysplasia (n = 2). The remaining 13 patients had normal stature with mild SED, Stickler-like syndrome or multiple epiphyseal dysplasia. Over 50% of the patients had undergone orthopedic surgery, usually for scoliosis, femoral osteotomy or hip replacement. Odontoid hypoplasia was present in 56% (95% CI 38-74) and a correlation between odontoid hypoplasia and short stature was observed. Atlanto-axial instability, was observed in 5 of the 18 patients (28%, 95% CI 10-54) in whom flexion-extension films of the cervical spine were available; however, it was rarely accompanied by myelopathy. Myopia was found in 45% (95% CI 35-56), and retinal detachment had occurred in 12% (95% CI 6-21; median age 14 years; youngest age 3.5 years). Thirty-two patients complained of hearing loss (37%, 95% CI 27-48) of whom 17 required hearing aids. The ophthalmological features and possibly also hearing loss are often relatively frequent and severe in patients with splicing mutations. Based on clinical findings, age at onset and genotype-phenotype correlations in this cohort, we propose guidelines for the management and follow-up in this group of disorders.
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Colágeno Tipo II/genética , Mutação , Osteocondrodisplasias/congênito , Fenótipo , Adolescente , Adulto , Idoso , Criança , Pré-Escolar , Estudos de Coortes , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Osteocondrodisplasias/diagnóstico por imagem , Osteocondrodisplasias/genética , Radiografia , Adulto JovemRESUMO
Spondyloepiphyseal dysplasia congenita (SEDC) is a rare autosomal dominant skeletal dysplasia resulting in impairment of type II collagen function. Phenotypically, this results in various skeletal, ligamentous, ocular, and otologic abnormalities. Platyspondyly, scoliosis, ligamental laxity, and odontoid hypoplasia are common, resulting in myelopathy in a high number of patients due to atlantoaxial instability. Despite patients undergoing surgical fixation, complication rates such as nonunion have been reported to be high. Here within, we present two patients treated with occipitocervical fusion for atlantoaxial instability and early symptoms of progressive myelopathy. We additionally provide a detailed review of the literature to inform practitioners of the spinal manifestations and clinical considerations in SEDC.
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Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant skeletal dysplasia characterized by short stature, diminished joint mobility, dislocation of hip, absent femoral head ossification, scoliosis and flattened vertebral bodies. SEDC is caused by mutations in the gene encoding the type II procollagen α-1 chain (COL2A1). We screened COL2A1 gene mutations in four affected individuals from a Chinese family with SEDC. A novel missense mutation c.3257G>T (p.G1086V), which located in the triple-helical domain, was identified in the SEDC patients. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations in the COL2A1 gene and clinical findings of SEDC.