RESUMO
Patients with a diagnosis of arthrogryposis often present with various orthopedic conditions, one of which is congenital vertical talus (CVT). This is the first study of this specific subset of syndromic patients to evaluate the medium-term outcomes of CVT correction using the minimally invasive Dobbs method. All patients with vertical talus and distal arthrogryposis who received treatment at our institution between January 2006 and June 2021 were identified. Radiographs, clinical notes and Patient-Reported Outcome Measurement Information System (PROMIS) scores (when available) were retrospectively reviewed. An alpha of 0.05 was used for all statistical analyses. In total 12 patients (19 feet) met all inclusion criteria and were included in the final analysis. By the time of the most recent visit, the average lateral Talar-Axis First Metatarsal Base Angle of the entire cohort increased from 13.73 ± 9.75 degrees 2 weeks postoperatively to 28.75 ± 23.73 degrees ( P = 0.0076). Radiographic recurrence of the talonavicular deformity was seen in nine feet (47.4%), 4 (21.1%) of which required additional unplanned surgery, The average PROMIS scores of the entire cohort in the pain interference, mobility and peer relationship domains were 48.97 ± 9.56, 47.9 ± 11.60 and 52.87 ± 8.31, respectively. Despite a higher radiographic recurrence rate of talonavicular deformity in this specific subset of syndromic patients, these patients still report PROMIS scores near the population average in the pain interference, mobility and peer relationships domains. We believe that the minimally invasive Dobbs method should be recommended as the first-line treatment method for these patients. Level of evidence: Level III.
Assuntos
Artrogripose , Pé Chato , Tálus , Humanos , Criança , Artrogripose/diagnóstico por imagem , Artrogripose/cirurgia , Seguimentos , Estudos Retrospectivos , Pé Chato/diagnóstico por imagem , Pé Chato/cirurgia , Dor , Tálus/diagnóstico por imagem , Tálus/cirurgia , Tálus/anormalidadesRESUMO
OBJECTIVE: We sought to investigate the long-term outcome of pulmonary function for arthrogryposis multiplex congenita (AMC) patients undergoing posterior spinal fusion (PSF) and to further determine influential factors. METHODS: Eighteen AMC patients with a minimum of 3-year follow-up after PSF were prospectively collected. All the patients underwent a pulmonary function test before surgery and at the final follow-up. The percentage predicted values of vital capacity (VC%) and forced vital capacity (FVC%) were recorded. The following radiographic parameters were collected including Cobb angle and thoracic kyphosis. The total lung volumes (TLV) were measured on the image of 3-dimensional computed tomography scan by the reconstruction software. RESULTS: There were 10 males and 8 females with a mean age of 13.8 ± 6.1 years. The mean preoperative VC% and FVC% were 40.5% ± 7.6% and 39.5% ± 4.7%, which were significantly increased to 52.0% ± 7.5% and 51.2% ± 6.8% at the final follow-up (P < 0.001). Besides, there was remarkable improvement in terms of TLV (1.57 ± 0.2 L vs. 2.39 ± 0.6 L, P < 0.001). Remarkable correlations were observed between TLV and pulmonary function tests (r = 0.79, P < 0.001 for VC%; r = 0.78, P < 0.001 for FVC%). Multiple regression analysis showed that 2 variables including Δ thoracic kyphosis and Δ Cobb angle were independently associated with the improvement of pulmonary function. CONCLUSIONS: The pulmonary function of AMC patients can be well improved through PSF surgery. It was remarkably associated with the correction of curve magnitude and restoration of thoracic kyphosis.
Assuntos
Artrogripose/cirurgia , Pulmão/fisiologia , Escoliose/cirurgia , Fusão Vertebral/métodos , Vértebras Torácicas/cirurgia , Adolescente , Artrogripose/complicações , Artrogripose/diagnóstico por imagem , Criança , Feminino , Seguimentos , Humanos , Cifose/diagnóstico por imagem , Cifose/etiologia , Cifose/cirurgia , Pulmão/diagnóstico por imagem , Masculino , Testes de Função Respiratória/métodos , Testes de Função Respiratória/tendências , Escoliose/diagnóstico por imagem , Escoliose/etiologia , Fusão Vertebral/tendências , Vértebras Torácicas/diagnóstico por imagem , Fatores de Tempo , Resultado do Tratamento , Adulto JovemRESUMO
OBJECTIVE: To describe a postnatal series of patients with arthrogryposis multiplex congenita by the causal mechanisms involved. METHODS: In this single-center study, the local data warehouse was used to identify patients with arthrogryposis multiplex congenita. Patients were classified into different etiologic groups. RESULTS: Of 82 patients included, the most frequent cause of arthrogryposis multiplex congenita was a neuromuscular disorder (39%), including skeletal muscle (n = 19), neuromuscular junction (n = 3), and peripheral nerve (n = 11) involvement. In other subgroups, 19 patients (23%) were classified by disorders in the central nervous system, 5 (6%) in connective tissue, 7 (8.5%) had mixed mechanisms, and 18 (22%) could not be classified. Contractures topography was not associated with a causal mechanism. Cerebral magnetic resonance imaging (MRI), electroneuromyography, and muscle biopsy were the most conclusive investigations. Metabolic investigations were normal in all the patients tested. Targeted or whole exome sequencing diagnostic rates were 51% and 71%, respectively. Thirty-three percent of patients died (early death occurred in patients with polyhydramnios, prematurity, and ventilatory dependency). DISCUSSION: The benefits of a precise diagnosis in the neonatal period include more tailored management of arthrogryposis multiplex congenita and better genetic information.
Assuntos
Artrogripose/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Feminino , Humanos , Lactente , MasculinoRESUMO
BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a rare syndrome with multiple joint contractures. Within the medical community, there is controversy surrounding AMC in terms of the ideal surgical approach and age for performing a reduction of dislocated hips. The purpose of this retrospective study was to evaluate the clinical outcomes of early open reduction of infant hip dislocation with arthrogryposis multiplex congenita following a modified Smith-Petersen approach that preserves the rectus femoris. METHODS: From 2010 to 2017, we performed this procedure on 28 dislocated hips in 20 infants under 12 months of age with AMC. The clinical and radiology data were reviewed retrospectively. The mean age at surgery was 6.9 ± 5.1 months, with a mean follow-up of 42.4 ± 41.1 months. RESULTS: After open reduction, the average hip acetabular index (AI), the international hip dysplasia institute classification (IHDI), and the hip range of motion significantly improved (all P < 0.001). After the surgery, 16 patients were community walkers, and four patients were home walkers. Three hips in two patients required secondary revision surgery for residual acetabular dysplasia with combined pelvic osteotomy and femoral osteotomy. Seven of the hips that had been operated on showed signs of avascular necrosis (AVN). Among them, four were degree II, two were degree III, and one was degree IV. Multiple linear regression analysis demonstrated that greater age (in months) heightened the risk for secondary revision surgery (P = 0.032). CONCLUSIONS: The modified Smith-Petersen approach preserving the rectus femoris is an encouraging and safe option for treating hip dislocation in young AMC patients (before 12 months). If surgery takes place at less than 12 months of age for patients with AMC, this earlier open reduction for hip dislocation may reduce the chances of secondary revision surgery. LEVEL OF EVIDENCE: IV, retrospective non-randomized study.
Assuntos
Artrogripose/diagnóstico por imagem , Artrogripose/cirurgia , Luxação Congênita de Quadril/diagnóstico por imagem , Luxação Congênita de Quadril/cirurgia , Procedimentos Ortopédicos/métodos , Feminino , Seguimentos , Humanos , Lactente , MasculinoRESUMO
STUDY DESIGN: Case report. OBJECTIVE: Describe the clinical and radiological outcomes of a patient with a piezo-type mechanosensitive ion channel component 2 (PIEZO2)-deficient arthrogryposis receiving surgery for severe kyphoscoliosis. SUMMARY OF BACKGROUND DATA: Spinal deformity is a characteristic feature of arthrogryposis due to PIEZO2 gene deficiency, for which surgical correction is indicated when the deformity is progressive to avoid neurological deficits and respiratory impairment. However, there exist few reports on the surgical treatment of spinal deformity in PIEZO2-deficient arthrogryposis, and no therapeutic standards have been established. METHODS: We retrospectively reviewed a case of proximal junctional kyphosis after posterior spinal fusion for severe kyphoscoliosis in PIEZO2-deficient arthrogryposis. RESULTS: The patient was a 13-year-old girl with PIEZO2-deficient arthrogryposis who underwent posterior spinal fusion with an all-pedicle screw construct from T2 to L2 for a preoperative main thoracic curve Cobb angle of 78° and thoracic kyphotic angle of 83°. Postoperative Cobb angle of the main thoracic curve and thoracic kyphotic angle were improved at 11° and 34°, respectively. Although revision surgery was required for neurological deficits from proximal junctional kyphosis, she could walk with a crutch and improvements in clinical questionnaire scores were noted at 2 years and 3 months after surgery. CONCLUSION: Based on the present case, posterior spinal fusion represents a good treatment option for severe spinal deformity in PIEZO2-deficient arthrogryposis. Careful consideration of fusion level is needed to prevent proximal junctional kyphosis. LEVEL OF EVIDENCE: 5.
Assuntos
Artrogripose/cirurgia , Canais Iônicos/deficiência , Cifose/etiologia , Cifose/cirurgia , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Adolescente , Artrogripose/diagnóstico por imagem , Feminino , Humanos , Cifose/diagnóstico por imagem , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Fusão Vertebral/tendências , Vértebras Torácicas/diagnóstico por imagem , Vértebras Torácicas/cirurgia , Resultado do TratamentoAssuntos
Artrogripose/diagnóstico por imagem , Ultrassonografia Pré-Natal , Amniocentese , Artrogripose/etiologia , Artrogripose/genética , Amostra da Vilosidade Coriônica , Tomada de Decisão Compartilhada , Diagnóstico Diferencial , Feminino , Testes Genéticos , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Análise em Microsséries , Atrofia Muscular Espinal/complicações , Atrofia Muscular Espinal/diagnóstico , Atrofia Muscular Espinal/genética , Distrofia Miotônica/complicações , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/genética , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico , Diagnóstico Pré-Natal , Prognóstico , Viroses/diagnósticoRESUMO
Arthrogryposis multiplex congenita (AMC) refers to an aetiologically heterogenous condition, which consists of joint contractures affecting two or more joints starting prenatally. The incidence is approximately one in 3000 live births; however, the prenatal incidence is higher, indicating a high intrauterine mortality. Over 320 genes have been implicated showing the genetic heterogeneity of the condition. AMC can be of extrinsic aetiology resulting from intrauterine crowding secondary to congenital structural uterine abnormalities (eg, bicornuate or septate uterus), uterine tumors (eg, fibroid), or multifetal pregnancy or intrinsic/primary/fetal aetiology, due to functional abnormalities in the brain, spinal cord, peripheral nerves, neuromuscular junction, muscles, bones, restrictive dermopathies, tendons and joints. Unlike many of the intrinsic/primary/fetal causes which are difficult to treat, secondary AMC can be treated by physiotherapy with good response. Primary cases may present prenatally with fetal akinesia associated with joint contractures and occasionally brain abnormalities, decreased muscle bulk, polyhydramnios, and nonvertex presentation while the secondary cases usually present with isolated contractures. Complete prenatal and postnatal investigations are needed to identify an underlying aetiology and provide information regarding its prognosis and inheritance, which is critical for the obstetrical care providers and families to optimize the pregnancy management and address future reproductive plans.
Assuntos
Artrogripose/diagnóstico por imagem , Ultrassonografia Pré-Natal , Algoritmos , Artrogripose/classificação , Artrogripose/genética , Autopsia , Feminino , Testes Genéticos , Humanos , Gravidez , Cuidado Pré-NatalRESUMO
Chitayat syndrome (CHYTS, MIM #617180) is a rare autosomal dominant clinical condition caused by a single missense pathogenic variant in the ERF gene (19q13.2, MIM*611888), which encodes the ETS2 Repressor Factor (ERF) protein. The characteristic features reported to date for this condition are facial dysmorphism, hyperphalangism and respiratory complications during the newborn period. Herein, we report the sixth patient worldwide with a confirmed molecular diagnosis of CHYTS. Our documentation of pectus carinatum, hypoplastic phalanges (as in two previously described patients), and lack of hyperphalangism broadens the phenotypic spectrum of CHYTS. Moreover, our identification of a heterozygous mutation [c.266A>G or p.(Tyr89Cys)] [rs886041001] in this patient provides further evidence that this condition is caused by a recurrent pathogenic variant in ERF.
Assuntos
Artrogripose/genética , Pectus Carinatum/fisiopatologia , Proteínas Repressoras/genética , Artrogripose/diagnóstico por imagem , Artrogripose/fisiopatologia , Pré-Escolar , Bases de Dados Genéticas , Feminino , Heterozigoto , Humanos , Lactente , Recém-Nascido , Masculino , Pectus Carinatum/diagnóstico por imagemRESUMO
OBJECTIVEAs scoliosis in arthrogryposis multiplex congenita (AMC) is unusual and the number of cases reviewed in previous studies is also relatively small, no previous study exists that has directly compared the results of spinal deformity correction between AMC and adolescent idiopathic scoliosis (AIS) patients. The aim of this study was to compare the radiographic and clinical outcomes of surgical correction of spinal deformity associated with AMC versus AIS.METHODSTwenty-four adolescents with AMC were matched with 48 AIS patients in terms of Cobb angle of main curve, curve pattern, sex, age at surgery, Risser grade, and length of follow-up. Patients in both groups underwent posterior-only spinal correction and fusion procedures. The surgical outcomes and complications were analyzed and compared between the 2 groups.RESULTSIn comparison to the AIS group, the AMC group had a significantly longer mean operation time (5.6 vs 4.4 hours, p = 0.002), more blood loss (1620 ± 250 ml vs 840 ± 260 ml, p < 0.001), and more fusion levels (14.1 ± 2.3 levels vs 12.4 ± 2.5 levels, p = 0.007) as well as a lower correction rate (44.3% ± 11.1% vs 70.8% ± 12.4%, p < 0.001) and a higher rate of loss of correction (5.0% ± 3.1% vs 2.1% ± 1.9%, p < 0.001). Nine patients in the AMC group had preoperative pelvic obliquity, which was corrected from a mean of 14.2° ± 8.4° to a mean of 4.3° ± 3.2° (p < 0.001) after the surgery. The thoracic lordosis and sagittal vertical axis were significantly improved in the AMC group. Notably, however, the AMC group was found to have higher rates of screw malpositioning (15.9% vs 9.5%, p = 0.002) and complications (8/24 [33.3%] vs 4/48 [8.3%], p = 0.016) as compared to the AIS group.CONCLUSIONSCorrection of AMC-associated scoliosis tends to require a longer operating time and involve more fusion levels but results in less correction, more blood loss, and more complications, in comparison with AIS. In addition, more attention should be paid to pelvic obliquity and sagittal hyperlordosis in AMC patients.
Assuntos
Artrogripose/cirurgia , Escoliose/cirurgia , Fusão Vertebral/métodos , Coluna Vertebral/anormalidades , Adolescente , Artrogripose/diagnóstico por imagem , Perda Sanguínea Cirúrgica/estatística & dados numéricos , Estudos de Casos e Controles , Criança , Feminino , Humanos , Fixadores Internos , Lordose/diagnóstico por imagem , Lordose/cirurgia , Masculino , Duração da Cirurgia , Osteotomia/efeitos adversos , Osteotomia/métodos , Parafusos Pediculares/efeitos adversos , Complicações Pós-Operatórias , Estudos Retrospectivos , Escoliose/diagnóstico por imagem , Fusão Vertebral/efeitos adversos , Coluna Vertebral/diagnóstico por imagem , Coluna Vertebral/cirurgia , Resultado do TratamentoRESUMO
RYR1 mutations, the most common cause of non-dystrophic neuromuscular disorders, are associated with the malignant hyperthermia susceptibility (MHS) trait as well as congenital myopathies with widely variable clinical and histopathological manifestations. Recently, bleeding anomalies have been reported in association with certain RYR1 mutations. Here we report a preterm infant born at 32 weeks gestation with arthrogryposis multiplex congenita due to compound heterozygous, previously MHS-associated RYR1 mutations, with additional signs of prenatal hemorrhage. The patient presented at birth with multiple joint contractures, scoliosis, severe thoracic rigidity and respiratory failure. He continued to depend on mechanical ventilation and tube feeding. Muscle histopathology showed a marked myopathic pattern with eccentric cores. Interestingly, the patient had additional unusual prenatal intraventricular hemorrhage, resulting in post-hemorrhagic hydrocephalus as well as epidural hemorrhage affecting the spinal cord. This report adds to the phenotypic variability associated with RYR1 mutations, and highlights possible bleeding complications in affected individuals.
Assuntos
Artrogripose/genética , Hemorragia Cerebral/congênito , Hemorragia Cerebral/genética , Canal de Liberação de Cálcio do Receptor de Rianodina/genética , Doenças da Medula Espinal/congênito , Doenças da Medula Espinal/genética , Artrogripose/diagnóstico por imagem , Artrogripose/patologia , Hemorragia Cerebral/diagnóstico por imagem , Heterozigoto , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Masculino , Fenótipo , Doenças da Medula Espinal/diagnóstico por imagemRESUMO
Hereditary neuropathy with liability to pressure palsies (HNPP) is an autosomal dominant peripheral neuropathy caused by mutations in the peripheral myelin protein 22 (PMP22) gene. This study summarizes the clinical, electrophysiological, genetic, and imaging features of six unrelated Chinese Han patients with HNPP. Age of onset was within the second decade in five patients, and 46â¯years of age in one patient. Weakness or numbness in a unilateral lower extremity was the most common symptom in 5 patients, and bilateral sensorineural hearing loss was also detected in one patient. Electrophysiological presentations suggested demyelinating sensory-motor polyneuropathy in the group. Magnetic resonance imaging (MRI) of the cervical and lumbar spine revealed varying degrees of degeneration in five patients, and mild kyphosis of cervical vertebral bodies in 2 teen-aged patients. In addition, cranial MRI of one patient showed scattered demyelination in the frontal lobes. Targeted next-generation-sequencing (NGS) revealed a PMP22 deletion in five patients and a heterozygous c.199G>A mutation in exon 4 of PMP22 in one patient. The I92V variant of lipopolysaccharide-induced tumor necrosis factor (LITAF) gene was found in one patient. There was no relationship between the Ile92Val variant of LITAF and age of onset in this group, albeit the sample size was very small.
Assuntos
Artrogripose/diagnóstico por imagem , Artrogripose/genética , Neuropatia Hereditária Motora e Sensorial/diagnóstico por imagem , Neuropatia Hereditária Motora e Sensorial/genética , Adolescente , Adulto , Idade de Início , Artrogripose/fisiopatologia , Povo Asiático , Criança , Eletrodiagnóstico , Feminino , Variação Genética , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mutação/genética , Proteínas da Mielina/genética , Condução Nervosa , Proteínas Nucleares/genética , Estudos Retrospectivos , Coluna Vertebral/diagnóstico por imagem , Fatores de Transcrição/genética , Adulto JovemRESUMO
Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric dysplasia and can usually be distinguished by decreased bone mineralization and bone fractures. Bent bone dysplasias also include syndromes such as kyphomelic dysplasia (MIM:211350) and mesomelic dysplasia Kozlowski-Reardon (MIM249710), both of which have been under debate regarding whether or not they are a real entity or simply a phenotypic manifestation of another dysplasia including OI. Bruck syndrome type 2 (BRKS2; MIM:609220) is a rare form of autosomal recessive OI caused by biallelic PLOD2 variants and is associated with congenital joint contractures with pterygia. In this report, we present six patients from four families with novel PLOD2 variants. All cases had multiple fractures. Other features ranged from prenatal lethal severe angulation of the long bones as in kyphomelic dysplasia and mesomelic dysplasia Kozlowski-Reardon through classical Bruck syndrome to moderate OI with normal joints. Two siblings with a kyphomelic dysplasia-like phenotype who were stillborn had compound heterozygous variants in PLOD2 (p.Asp585Val and p.Ser166*). One infant who succumbed at age 4 months had a bent bone phenotype phenotypically like skeletal dysplasia Kozlowski-Reardon (with mesomelic shortening, camptodactyly, retrognathia, cleft palate, skin dimples, but also with fractures). He was homozygous for the nonsense variant (p.Trp561*). Two siblings had various degrees of Bruck syndrome caused by the homozygous missense variant, p.His687Arg. Furthermore a boy with a clinical presentation of moderate OI had a possibly pathogenic homozygous variant p.Trp588Cys. Our experience of six patients with biallelic pathogenic variants in PLOD2 expands the phenotypic spectrum in the PLOD2-related phenotypes. © 2017 American Society for Bone and Mineral Research.
Assuntos
Anormalidades Múltiplas , Artrogripose , Doenças do Desenvolvimento Ósseo , Mutação de Sentido Incorreto , Osteogênese Imperfeita , Pró-Colágeno-Lisina 2-Oxoglutarato 5-Dioxigenase/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Adulto , Substituição de Aminoácidos , Artrogripose/diagnóstico por imagem , Artrogripose/genética , Doenças do Desenvolvimento Ósseo/diagnóstico por imagem , Doenças do Desenvolvimento Ósseo/genética , Feminino , Humanos , Recém-Nascido , Masculino , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/genéticaRESUMO
PURPOSE: The purpose of this study was to determine if a simultaneous posterior elbow release and humeral osteotomy to correct both the elbow extension contracture and the humeral internal rotation contracture in children with arthrogryposis can produce similar results as a posterior elbow release alone. METHODS: This study was a retrospective chart review of consecutive patients with arthrogryposis treated surgically for elbow extension contracture between 2007 and 2014. A total of 43 procedures in 36 patients had adequate available follow-up data and were included in the study. The postoperative range of motion reported was measured at the early follow-up (3-6 months), midterm follow-up (between 1 and 2 years), and the most recent long-term follow-up (after 2 years) from the date of surgery. Patients were grouped into 2 groups (simultaneous and release) based on the necessity of performing an ipsilateral humeral rotation osteotomy at the time of the release. RESULTS: At early follow-up, patients in both groups increased their total arc of motion. There was a significant difference in extension and arc of motion at midterm follow-up (between 1 and 2 years) between the simultaneous and the release groups with the simultaneous group significantly losing both terminal extension and total arc of motion. At more than 2 years follow-up, there remained a statistically significant difference in arc of motion, with the release group having a significantly larger arc of motion. Patients who underwent dual plating had a much larger arc of motion at early follow-up than the K-wire or single-plate fixation group, despite having similar preoperative extension, flexion, and arc of motion. This difference was also significant at late follow-up. CONCLUSIONS: Patients with posterior release alone had significantly greater improvement in total arc of motion and significantly better elbow extension than patients who underwent a simultaneous humeral osteotomy. However, rigid fixation with early mobilization may yield results comparable with the release alone group. TYPE OF STUDY/LEVEL OF EVIDENCE: Therapeutic IV.
Assuntos
Artrogripose/cirurgia , Contratura/cirurgia , Cotovelo/cirurgia , Úmero/cirurgia , Osteotomia/métodos , Amplitude de Movimento Articular/fisiologia , Adolescente , Artrogripose/diagnóstico por imagem , Pinos Ortopédicos , Placas Ósseas , Criança , Pré-Escolar , Estudos de Coortes , Terapia Combinada , Contratura/diagnóstico por imagem , Cotovelo/diagnóstico por imagem , Terapia por Exercício/métodos , Feminino , Humanos , Úmero/diagnóstico por imagem , Masculino , Procedimentos Ortopédicos/métodos , Osteotomia/instrumentação , Cuidados Pós-Operatórios/métodos , Prognóstico , Radiografia/métodos , Recuperação de Função Fisiológica , Estudos Retrospectivos , Rotação , Resultado do TratamentoRESUMO
We describe a case of Zika virus infection acquired during the first trimester in a HIV-infected pregnant woman that led to multiple fetal malformations and fetal demise in Rio de Janeiro, Brazil.
Assuntos
Artrogripose/patologia , Edema/patologia , Feto/patologia , Infecções por HIV/patologia , Microcefalia/patologia , Complicações Infecciosas na Gravidez/patologia , Infecção por Zika virus/patologia , Artrogripose/diagnóstico por imagem , Artrogripose/virologia , Brasil , Edema/diagnóstico por imagem , Feminino , Morte Fetal , Feto/diagnóstico por imagem , Feto/virologia , HIV/patogenicidade , HIV/fisiologia , Infecções por HIV/diagnóstico por imagem , Infecções por HIV/virologia , Humanos , Microcefalia/diagnóstico por imagem , Microcefalia/virologia , Gravidez , Complicações Infecciosas na Gravidez/diagnóstico por imagem , Complicações Infecciosas na Gravidez/virologia , Primeiro Trimestre da Gravidez , Zika virus/patogenicidade , Zika virus/fisiologia , Infecção por Zika virus/diagnóstico por imagem , Infecção por Zika virus/virologiaRESUMO
Arthrogryposis multiplex congenita (AMC) is a rare disorder characterized by non-progressive, multiple contractures. In addition to affected extremities, patients may also present microstomia, decreased temporomandibular joint mobility. Although the etiology of AMC is unclear, any factor that decreases fetal movement is responsible for AMC. Thus, accurate diagnosis and classification are crucial to the appropriate treatment of AMC. The development of ultrasound technology has enabled prenatal diagnosis. Very early treatment is favorable, and multidisciplinary treatment is necessary to improve the function of AMC patients. Most patients require surgery to release contracture and reconstruct joints. However, perioperative care is challenging, and difficult airway is the first concern of anesthesiologists. Postoperative pulmonary complications are common and regional anesthesia is recommended for postoperative analgesia. This review on AMC is intended for anesthesiologists. Thus, we discuss the treatment and perioperative management of patients undergoing surgery, as well as the diagnosis and classification of AMC.
Assuntos
Artrogripose/classificação , Artrogripose/diagnóstico por imagem , Artrogripose/terapia , Assistência Perioperatória/métodos , Anestesia/métodos , Anestesiologia , Humanos , UltrassonografiaRESUMO
The semaphorins constitute a large family of secreted and membrane-associated proteins that regulate many developmental processes, including neural circuit assembly, bone formation and angiogenesis. Recently, bi-allelic loss-of-function variants in SEMA3A (semaphorin 3A) were identified in a single patient with a particular pattern of multiple congenital anomalies (MCA). Using homozygosity mapping combined with exome sequencing, we identified a homozygous SEMA3A variant causing a premature stop codon in an 8 year old boy with the same pattern of MCA. The phenotype of these patients is characterized by postnatal short stature, skeletal anomalies of the thorax, a minor congenital heart or vascular defect, camptodactyly, micropenis, and variable additional anomalies. Motor development is delayed in both patients, and intellectual development is delayed in one patient. Our observation of a second case supports the notion that bi-allelic mutations in SEMA3A cause an autosomal recessive type of syndromic short stature.
Assuntos
Anormalidades Múltiplas/genética , Artrogripose/genética , Nanismo/genética , Semaforina-3A/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/fisiopatologia , Alelos , Artrogripose/complicações , Artrogripose/diagnóstico por imagem , Artrogripose/fisiopatologia , Criança , Pré-Escolar , Nanismo/complicações , Nanismo/diagnóstico por imagem , Nanismo/fisiopatologia , Homozigoto , Humanos , Masculino , Linhagem , FenótipoRESUMO
This study describes the management of foot deformity in children. Severe congenital clubfeet treated using posteromedial release without talocalcaneal joint release were flexible and functional. Talectomy may be necessary for congenital clubfeet with arthrogryposis multiplex congenita. The diagnosis and severity of vertical talus were defined based on stress radiographs. For the deformity with spina bifida, a combination of talocalcaneal joint fusion and precise correction by soft tissue release and tendon transfer was performed. This combined surgery is effective, particularly in patients with equino-varus feet.
Assuntos
Deformidades Congênitas do Pé/diagnóstico por imagem , Deformidades Congênitas do Pé/cirurgia , Procedimentos Ortopédicos/métodos , Artrogripose/diagnóstico por imagem , Artrogripose/cirurgia , Criança , Pré-Escolar , Pé Torto Equinovaro/diagnóstico por imagem , Pé Torto Equinovaro/cirurgia , Pé Chato/congênito , Pé Chato/diagnóstico por imagem , Pé Chato/cirurgia , Seguimentos , Humanos , Radiografia/métodos , Recuperação de Função Fisiológica , Medição de Risco , Resultado do TratamentoRESUMO
Autosomal dominantly inherited mutations of BICD2 are associated with congenital-onset spinal muscular atrophy characterised by lower limb predominance. A few cases have also showed upper motor neuron pathology, including presenting with features resembling hereditary spastic paraplegia. The age-of-onset for the published families is usually at birth but also included cases with childhood- and adult-onset disease. In this report we described two isolated probands that presented in utero with features associated with reduced fetal movements. Both cases were diagnosed at birth with arthrogryposis multiplex congenita (AMC) and hypotonia. Other variable features included congenital fractures, hip dislocation, micrognathia, respiratory insufficiency, microcephaly and bilateral perisylvian polymicrogyria. Patient 1 is 4 years of age and stable, but shows significant motor developmental delay and delayed speech. Patient 2 passed away at 7 weeks of age. Through next generation sequencing we identified the same missense substitution in BICD2 (p.Arg694Cys) in both probands. Sanger sequencing showed that in both cases the mutation arose de novo. The in utero onset in both cases suggests that the p.Arg694Cys substitution may have a more deleterious effect on BICD2 function than previously described mutations. Our results broaden the phenotypes associated with BICD2 mutations to include AMC and cortical malformations and therefore to a similar phenotypic spectrum to that associated with its binding partner DYNC1H1.
Assuntos
Anormalidades Múltiplas/genética , Artrogripose/genética , Deficiência Intelectual/genética , Malformações do Desenvolvimento Cortical/genética , Proteínas Associadas aos Microtúbulos/genética , Mutação , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/terapia , Artrogripose/diagnóstico por imagem , Artrogripose/terapia , Pré-Escolar , Evolução Fatal , Humanos , Lactente , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/terapia , Masculino , Malformações do Desenvolvimento Cortical/diagnóstico por imagem , Malformações do Desenvolvimento Cortical/terapia , FenótipoRESUMO
Bruck syndrome (BS) is a disorder characterized by joint flexion contractures and skeletal dysplasia that shows strong clinical overlap with the brittle bone disease osteogenesis imperfecta (OI). BS is caused by biallelic mutations in either the FKBP10 or the PLOD2 gene. PLOD2 encodes the lysyl hydroxylase 2 (LH2) enzyme, which is responsible for the hydroxylation of lysine residues in fibrillar collagen telopeptides. This hydroxylation directs crosslinking of collagen fibrils in the extracellular matrix, which is necessary to provide stability and tensile integrity to the collagen fibrils. To further elucidate the function of LH2 in vertebrate skeletal development, we created a zebrafish model harboring a homozygous plod2 nonsense mutation resulting in reduced telopeptide hydroxylation and crosslinking of bone type I collagen. Adult plod2 mutants present with a shortened body axis and severe skeletal abnormalities with evidence of bone fragility and fractures. The vertebral column of plod2 mutants is short and scoliotic with compressed vertebrae that show excessive bone formation at the vertebral end plates, and increased tissue mineral density in the vertebral centra. The muscle fibers of mutant zebrafish have a reduced diameter near the horizontal myoseptum. The endomysium, a layer of connective tissue ensheathing the individual muscle fibers, is enlarged. Transmission electron microscopy of mutant vertebral bone shows type I collagen fibrils that are less organized with loss of the typical plywood-like structure. In conclusion, plod2 mutant zebrafish show molecular and tissue abnormalities in the musculoskeletal system that are concordant with clinical findings in BS patients. Therefore, the plod2 zebrafish mutant is a promising model for the elucidation of the underlying pathogenetic mechanisms leading to BS and the development of novel therapeutic avenues in this syndrome. © 2016 American Society for Bone and Mineral Research.
Assuntos
Artrogripose/patologia , Colágeno Tipo I/metabolismo , Lisina/metabolismo , Anormalidades Musculoesqueléticas/patologia , Osteogênese Imperfeita/patologia , Peptídeos/metabolismo , Peixe-Zebra/metabolismo , Sequência de Aminoácidos , Animais , Artrogripose/complicações , Artrogripose/diagnóstico por imagem , Artrogripose/metabolismo , Osso e Ossos/anormalidades , Osso e Ossos/diagnóstico por imagem , Osso e Ossos/patologia , Calcificação Fisiológica , Domínio Catalítico , Códon sem Sentido/genética , Sequência Conservada/genética , Reagentes de Ligações Cruzadas/metabolismo , Evolução Molecular , Hidroxilação , Larva/metabolismo , Espectrometria de Massas , Anormalidades Musculoesqueléticas/complicações , Anormalidades Musculoesqueléticas/diagnóstico por imagem , Anormalidades Musculoesqueléticas/metabolismo , Notocorda/patologia , Osteogênese Imperfeita/complicações , Osteogênese Imperfeita/diagnóstico por imagem , Osteogênese Imperfeita/metabolismo , Fenótipo , Microtomografia por Raio-X , Proteínas de Peixe-Zebra/genéticaRESUMO
OBJECTIVE: To describe the clinical, radiological, and electromyographic features in a series of children with joint contractures (arthrogryposis) associated with congenital infection presumably caused by Zika virus. DESIGN: Retrospective case series study. SETTING: Association for Assistance of Disabled Children, Pernambuco state, Brazil. PARTICIPANTS: Seven children with arthrogryposis and a diagnosis of congenital infection presumably caused by Zika virus during the Brazilian microcephaly epidemic. MAIN OUTCOME MEASURES: Main clinical, radiological, and electromyographic findings, and likely correlation between clinical and primary neurological abnormalities. RESULTS: The brain images of all seven children were characteristic of congenital infection and arthrogryposis. Two children tested positive for IgM to Zika virus in the cerebrospinal fluid. Arthrogryposis was present in the arms and legs of six children (86%) and the legs of one child (14%). Hip radiographs showed bilateral dislocation in seven children, subluxation of the knee associated with genu valgus in three children (43%), which was bilateral in two (29%). All the children underwent high definition ultrasonography of the joints, and there was no evidence of abnormalities. Moderate signs of remodeling of the motor units and a reduced recruitment pattern were found on needle electromyography (monopolar). Five of the children underwent brain computed tomography (CT) and magnetic resonance imaging (MRI) and the remaining two CT only. All presented malformations of cortical development, calcifications predominantly in the cortex and subcortical white matter (especially in the junction between the cortex and white matter), reduction in brain volume, ventriculomegaly, and hypoplasia of the brainstem and cerebellum. MRI of the spine in four children showed apparent thinning of the cord and reduced ventral roots. CONCLUSIONS: Congenital Zika syndrome should be added to the differential diagnosis of congenital infections and arthrogryposis. The arthrogryposis was unrelated to the abnormalities of the joints themselves, but was possibly of neurogenic origin, with chronic involvement of central and peripheral motor neurones leading to deformities as a result of fixed postures in utero. Based on the neurophysiological observations, we suggest two possible mechanisms: tropism of neurones, with involvement of peripheral and central motor neurones, or a relation with vascular disorders.