A síndrome de fusão posterior das vértebras lombossacras e blefaroptose é caracterizada por duas condições principais: a queda da pálpebra presente desde o nascimento (chamada de ptose congênita) e a fusão (ou seja, a união) na parte de trás dos ossos da coluna na região lombar e sacral (as vértebras lombossacras). Ela foi descrita em uma mãe e suas duas filhas.
Introdução
O que você precisa saber de cara
A síndrome de fusão posterior das vértebras lombossacras e blefaroptose é caracterizada por duas condições principais: a queda da pálpebra presente desde o nascimento (chamada de ptose congênita) e a fusão (ou seja, a união) na parte de trás dos ossos da coluna na região lombar e sacral (as vértebras lombossacras). Ela foi descrita em uma mãe e suas duas filhas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Genética e causas
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Publicações mais relevantes
Dural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.
There has not been universal consensus on the management of traumatic dural tears. This case report and systematic review highlighted the incidence, risk factors, diagnostic clues, surgical management and prognosis of dural rupture in the context of traumatic spinal fractures. A total of 3 databases were included in the literature search: PubMed, Cochrane and Scopus. Search terms included "(dural tear OR dural rupture)" AND "(vertebral fracture OR burst fracture)". Primary outcomes included (I) the incidence of dural tears and etiologies; (II) radiological risk factors; (III) time to surgery and preoperative neurology; (IV) dural repair method; (V) surgical stabilisation; (VI) complications; and (VII) postoperative neurological outcomes. A case of a 57-year-old male with accidental fall from height was presented. Despite being neurologically intact on admission, he developed acute cauda equina syndrome with imaging revealing a three-column L3 fracture with cauda equina compression. He subsequently underwent urgent first-stage posterior decompression and instrumented L2-L4 spinal fusion, during which a traumatic dural rupture caused by L3 lamina fracture was identified and primarily repaired. A second-stage anterior L3 corpectomy and anterior column reconstruction with fusion was performed. For the review, twenty-seven articles, including 8 case reports, were included. Incidence of dural tears after traumatic spinal fractures ranged from 2.9% to 94.7%. Interpedicular distance, presence of whole laminar fractures, central canal diameter and posterior element fractures were radiological indicators for dural lacerations. Most patients presented with incomplete neurological deficit and surgical intervention for most cases involved posterior stabilisation of spine with primary suture repair of the dural laceration. Complications included cerebrospinal fluid (CSF) leakage, pseudomeningoceles and nerve entrapment. Postoperative course was generally satisfactory with up to 61% of patients making complete recovery and returning to function. Dural tears were not uncommon after traumatic spinal injuries, especially in lumbosacral impaction or burst fractures. Radiographic predictors for dural lacerations included interpedicular distance and canal diameter. Current standard of dural repair involves primary suture, while adjunctive techniques (grafts and patches) were only recommended when primary repair was not feasible. The need for immediate surgical treatment is emphasized in patients with incomplete neurological deficits given their recovery potential.
Anterior Decompression of L5 Nerve Root for Far-Out Syndrome Due to Anterolateral Vertebral Osteophyte Formation: 2 Case Reports and Literature Review.
Far-out syndrome is considered a rare spinal disorder characterized by L5 radiculopathy due to extraforaminal stenosis at the lumbosacral junction. Despite advancements in surgical techniques, managing far-out syndrome remains a significant challenge owing to the complex anatomical variations usually associated with the condition. This article reports 2 cases of far-out syndrome resulting from anterolateral vertebral osteophyte formation that underwent anterior decompression. A comprehensive review of the literature is also provided. A 51-year-old man and a 72-year-old woman presented with progressive leg pain and neurogenic claudication associated with hypesthesia over the left L5 dermatome. Radiological findings in both patients revealed entrapment of the L5 nerve root by anterolateral vertebral osteophytes at the anterior exit zone of the foramen. One patient presented with Castellvi Type IV lumbosacral transitional vertebra, and the other patient showed spontaneous facet joint fusion at adjacent segments. We performed anterior-extraperitoneal osteophytectomy using an ultrasonic bone dissector to decompress the extraforaminal stenosis, which resulted in successful resolution of the symptoms and improved neurological status. Both patients remained asymptomatic at the 1-year follow-up. Extraforaminal stenosis at the lumbosacral junction due to anterolateral vertebral osteophytes usually occurs in patients with anatomical abnormalities such as lumbosacral transitional vertebra and adjacent segment fusion. Anterior decompression via extraperitoneal approach is an effective and safe treatment option for far-out syndrome, offering a viable alternative to the conventional posterior approach.
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Unique Use of Posterior Sacroiliac Joint Fusion for Pain Relief in Bertolotti Syndrome.
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Dural tears from traumatic spinal fractures: an illustrative case and systematic review of its incidence, diagnosis, risk factors, and management.
- Anterior Decompression of L5 Nerve Root for Far-Out Syndrome Due to Anterolateral Vertebral Osteophyte Formation: 2 Case Reports and Literature Review.
- First report of transient urinary retention after bilateral lumbar ESPB in a patient with FBSS: a case report.
- Unique Use of Posterior Sacroiliac Joint Fusion for Pain Relief in Bertolotti Syndrome.
- Imaging Diagnosis of Pelvic Nerve Syndromes.
- Atypical caudal regression syndrome with agenesis of lumbar spine and presence of sacrum - case report and literature review.
- Surgical treatment of scoliosis in larsen syndrome with bilateral hip dislocation.
- F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family.
- Spondylocostal dysostosis with perinatal death and meningomyelocele.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:2064(Orphanet)
- OMIM OMIM:192800(OMIM)
- MONDO:0008650(MONDO)
- GARD:2276(GARD (NIH))
- Busca completa no PubMed(PubMed)
- Q55781605(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
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