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1.
Am J Case Rep ; 20: 719-722, 2019 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-31105263

RESUMO

BACKGROUND Arthrogryposis multiplex congenita is a multifactorial syndromic or non-syndromic group of conditions consisting of multiple congenital contractures of the body, of unknown etiology. It is associated with a heterogenous group of disorders that include but are not limited to processes such as myopathic and neuropathic. Neural tube defect is a neuropathic disorder that incorporates myelomeningocele that might be either isolated or within a spectrum of multiple diseases. CASE REPORT This is a case report of a 28-day-old male born with lower limb arthrogryposis with myelomeningocele and Chiari II malformation in a Mediterranean population. CONCLUSIONS Lower extremity arthrogryposis with myelomeningocele and Chiari II malformation is a prenatal diagnosis that requires high clinical suspicion, early multidisciplinary intervention, and genetic counselling. As long as new approaches are being explored in the management of such cases, babies born now with neural tube defects can expect better quality of life.


Assuntos
Malformação de Arnold-Chiari/diagnóstico , Malformação de Arnold-Chiari/terapia , Artrogripose/diagnóstico , Artrogripose/terapia , Meningocele/diagnóstico , Meningocele/terapia , Malformação de Arnold-Chiari/complicações , Artrogripose/complicações , Humanos , Recém-Nascido , Masculino , Meningocele/complicações
3.
Acta pediatr. esp ; 77(1/2): e35-e38, ene.-feb. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-182879

RESUMO

El síndrome de Sheldon-Hall es un cuadro poco frecuente que pertenece al grupo de artrogriposis distales, patologías que presentan contracturas articulares de predominio distal sin una afectación neurológica o muscular primaria. De herencia autosómica dominante, se ha implicado a diversos genes en su etiopatogenia, aunque sólo se ha podido demostrar una alteración genética de base en aproximadamente la mitad de los pacientes afectados. Presentamos un caso de esta rara enfermedad de diagnóstico neonatal en una paciente sin antecedentes familiares, en la que se pudo identificar una variante patogénica de novo en el gen TNNT3. Analizamos también las características fenotípicas de este síndrome, así como el diagnóstico, el manejo y el pronóstico de estos pacientes a largo plazo


Sheldon-Hall syndrome is a rare disease, which belongs to the group of distal arthrogryposis that shows distal joint contractures without primary neurological or muscular involvement. It has an autosomal dominant inheritance pattern, with several genes implicated in its etiopathogeny, although a genetic alteration has been demonstrated only in half of the affected patients. We present a case of this rare disease with neonatal diagnosis in a patient with no family history, in which we could demonstrate a genetic de novo pathogenic variant in TNNT3 gene. We also describe the phenotypic characteristics of this syndrome as well as the diagnosis, management and prognosis of these patients in the long term


Assuntos
Humanos , Feminino , Recém-Nascido , Artrogripose/diagnóstico , Artrogripose/genética , Síndrome , Fenótipo
4.
J Pediatr Orthop ; 39(7): e531-e535, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-30672764

RESUMO

BACKGROUND: Arthrogryposis multiplex congenita (AMC) is a nonprogressive syndrome with multiple rigid joints, fibrotic periarticular tissue, and muscular fibrosis. The most common subgroup is amyoplasia. Ambulation is one of the most significant functions of the lower extremities as it translates to increased functionality and independence in adulthood. There is no predicative scale to determine ambulation at maturity for the infant with amyoplasia. It is believed lower extremity resting position of infants with amyoplasia potentially correlates with ambulation at maturity. The purpose of this study was to classify the infantile position of lower extremities and muscle strength to predict ambulation potential at maturity. METHODS: Children with amyoplasia were retrospectively reviewed and classified into groups based on infantile position of hip-knee alignment and limb muscle function. Sitting, standing, and walking skills from infancy into adulthood were evaluated. The ambulation function was correlated with the infantile position of the lower extremities. RESULTS: Amyoplasia cases were sorted into 5 types and correlated with ambulatory potential. Type I: mild ambulatory impairment with infantile position of flexed knees and hips but full range of motion. At maturity, all were community ambulators. Type II: moderate ambulatory impairment having infantile position of hip flexion, hip external rotation, and knee flexion contractures. Hip abductors and external rotators had antigravity strength. All stood and walked during the first decade of life with knee ankle foot orthoses. Type III: severe ambulatory impairment having infantile position of hip flexion, abduction, external rotation, and knee flexion contractures but lacked hip muscle recruitment. All used wheelchairs at maturity. Type IV: mild ambulatory impairment with infantile position of extended knees and flexed dislocated hips. At maturity, 90% were community ambulators. Type V: variable ambulatory impairment having asymmetric hip and knee alignment with unilateral hip dysplasia with extended knee and opposite limb flexed. Ambulation skill varied at maturity with 27% full-time wheelchair users. CONCLUSIONS: Amyoplasia can be sorted by infantile position of lower extremities and muscle strength into 5 types to predict ambulatory function. LEVEL OF EVIDENCE: Level III-Prognostic Study.


Assuntos
Artrogripose , Extremidade Inferior , Força Muscular , Posicionamento do Paciente , Caminhada , Adulto , Artrogripose/diagnóstico , Artrogripose/fisiopatologia , Feminino , Humanos , Lactente , Extremidade Inferior/crescimento & desenvolvimento , Extremidade Inferior/fisiopatologia , Masculino , Limitação da Mobilidade , Aparelhos Ortopédicos , Posicionamento do Paciente/classificação , Posicionamento do Paciente/métodos , Valor Preditivo dos Testes , Prognóstico , Amplitude de Movimento Articular , Estudos Retrospectivos
5.
J Matern Fetal Neonatal Med ; 32(3): 502-511, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28954562

RESUMO

Arthrogryposis multiplex congenita (AMC) refers to the development of multiple joint contractures affecting two or more areas of the body prior to birth. It affects approximately 1 in 3000 individuals, mostly reported in individuals of Asian, African and European descent with equal incidence in males and females. Arthrogryposis is associated with over 400 medical conditions and 350 known genes with considerable variability in phenotypic expression. The primary underlying mechanism is decreased fetal movement during development. Prenatal imaging is crucial in early diagnosis by identifying fetal movement limitations and the presence of club foot or joint contractures. Postnatal autopsy confirms the diagnosis and extent of associated congenital anomalies and provides a valuable source of DNA material. Molecular methods are particularly useful in delineating novel gene mutations, locus heterogeneity and phenotype genotype correlation. Prenatal evaluation with early diagnosis via image scanning and further genetic surveillance give the opportunity for family counseling concerning future pregnancy management and expected neonatal morbidity and mortality.


Assuntos
Artrogripose/diagnóstico , Artrogripose/patologia , Artrogripose/epidemiologia , Artrogripose/genética , Feminino , Estudos de Associação Genética , Humanos , Fenótipo , Gravidez , Ultrassonografia Pré-Natal
6.
JBJS Case Connect ; 8(4): e95, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30489379

RESUMO

CASE: A 13-year-old girl presented with paresthesia of the fourth and fifth fingers and the dorsal ulnar surface of the left hand that had started 3 months prior. Physical examination showed loss of sensation at the ulnar side of the fourth and fifth fingers and a positive Froment sign. Electromyography showed a severe motor conduction block in the ulnar nerve at the elbow. Eighteen months later, the patient had similar symptoms in the right hand. The diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) was considered and confirmed with genetic testing. CONCLUSION: HNPP is a rare disease that should be considered not only in patients with multiple compressive neuropathies, but also in patients with any unexpected or unexplained neuropathy, even if it is isolated.


Assuntos
Artrogripose/diagnóstico , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Adolescente , Artrogripose/genética , Feminino , Neuropatia Hereditária Motora e Sensorial/genética , Humanos , Proteínas da Mielina/genética
7.
Prenat Diagn ; 38(13): 1120-1128, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30334587

RESUMO

OBJECTIVE: With the replacement of karyotyping by chromosomal microarray (CMA) in invasive prenatal diagnosis, new challenges have arisen. By building a national database, we standardize the classification and reporting of prenatally detected copy number variants (CNVs) across Belgian genetic centers. This database, which will link genetic and ultrasound findings with postnatal development, forms a unique resource to investigate the pathogenicity of variants of uncertain significance and to refine the phenotypic spectrum of pathogenic and susceptibility CNVs. METHODS: The Belgian MicroArray Prenatal (BEMAPRE) consortium is a collaboration of all genetic centers in Belgium. We collected data from all invasive prenatal procedures performed between May 2013 and July 2016. RESULTS: In this three-year period, 13 266 prenatal CMAs were performed. By national agreement, a limited number of susceptibility CNVs and no variants of uncertain significance were reported. Added values for using CMA versus conventional karyotyping were 1.8% in the general invasive population and 2.7% in cases with an ultrasound anomaly. Of the reported CNVs, 31.5% would have remained undetected with non-invasive prenatal test as the first-tier test. CONCLUSION: The establishment of a national database for prenatal CNV data allows for a uniform reporting policy and the investigation of the prenatal and postnatal genotype-phenotype correlation.


Assuntos
Aberrações Cromossômicas , Anormalidades Congênitas/genética , Variações do Número de Cópias de DNA/genética , Haploinsuficiência/genética , Análise em Microsséries/métodos , Adulto , Artrogripose/diagnóstico , Artrogripose/genética , Bélgica , Doença de Charcot-Marie-Tooth/diagnóstico , Doença de Charcot-Marie-Tooth/genética , Hibridização Genômica Comparativa , Anormalidades Congênitas/diagnóstico , Bases de Dados Genéticas , Síndrome de DiGeorge/diagnóstico , Síndrome de DiGeorge/genética , Feminino , Predisposição Genética para Doença , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/genética , Humanos , Ictiose Ligada ao Cromossomo X/diagnóstico , Ictiose Ligada ao Cromossomo X/genética , Cariotipagem , Gravidez , Diagnóstico Pré-Natal
8.
BMC Med Genet ; 19(1): 179, 2018 10 03.
Artigo em Inglês | MEDLINE | ID: mdl-30285720

RESUMO

BACKGROUND: Distal arthrogryposis (DA) is a group of clinically and genetically heterogeneous disorders that involve multiple congenital limb contractures and comprise at least 10 clinical subtypes. Here, we describe our findings in two Chinese families: Family 1 with DA2B (MIM 601680) and Family 2 with mild DA. METHODS: To map the disease locus, two-point linkage analysis was performed with microsatellite markers closed to TPM2, TNNI2/TNNT3 and TNNC2. In Family 1, a positive LOD (logarithm of odds) score was only obtained at the microsatellite marker close to TPM2 and mutation screening was performed using direct sequencing of TPM2 in the proband. In Family 2, for the LOD score that did not favor linkage to any markers, whole-exome sequencing (WES) was performed on the proband. PCR-restriction fragment length polymorphism (RFLP) and bioinformatics analysis were then applied to identify the pathogenic mutations in two families. In order to correlate genotype with phenotype in DA, retrospective analyses of phenotypic features according to the TPM2 and PIEZO2 mutation spectrums were carried out. RESULTS: A heterozygous missense mutation c.308A > G (p.Q103R) in TPM2 in Family 1, and a novel variation c.8153G > A (p.R2718Q) in PIEZO2 in Family 2 were identified. Each of the two novel variants was co-segregated with the DA manifestations in the corresponding family. Bioinformatics analysis from several tools supported the pathogenicity of the mutations. Furthermore, our study suggests that there is no relation between the types or locations of TPM2 mutations and the clinical characteristics, and that different inheritance modes and mutation types concerning PIEZO2 cause distinct clinical manifestations. CONCLUSIONS: We report two novel mutations within TPM2 and PIEZO2 responsible for DA2B and mild DA in two Chinese families, respectively. Our study expands the spectrum of causal mutations in the TPM2 and PIEZO2 genes.


Assuntos
Artrogripose/genética , Loci Gênicos , Canais Iônicos/genética , Mutação , Tropomiosina/genética , Adulto , Idoso , Artrogripose/diagnóstico , Artrogripose/etnologia , Artrogripose/fisiopatologia , Grupo com Ancestrais do Continente Asiático , Criança , Mapeamento Cromossômico , Família , Feminino , Estudos de Associação Genética , Ligação Genética , Genótipo , Humanos , Canais Iônicos/química , Masculino , Repetições de Microssatélites , Pessoa de Meia-Idade , Modelos Moleculares , Linhagem , Fenótipo , Índice de Gravidade de Doença , Tropomiosina/química , Troponina I/genética
10.
BMJ Case Rep ; 20182018 Aug 09.
Artigo em Inglês | MEDLINE | ID: mdl-30093463

RESUMO

We report a case of a term baby presenting with neonatal cholestasis and upper limb flexion deformity on day 4 of life. On further evaluation, high gamma glutamyl transpeptidase (GGT) levels and absent left kidney were found. A diagnosis of arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome was made which is a rare autosomal recessive disorder with primarily clinical diagnosis. Outcome of this condition is dismal. It has a large spectrum of clinical manifestations, but association with high GGT levels and absent kidney is quite rare. No single case report has observed such an association, and this is the first case of ARC syndrome reported from India to the best of our knowledge.


Assuntos
Artrogripose/diagnóstico , Colestase/diagnóstico , Rim/anormalidades , Insuficiência Renal/diagnóstico , Artrogripose/complicações , Colestase/complicações , Feminino , Humanos , Hiperbilirrubinemia/sangue , Hiperbilirrubinemia/complicações , Índia , Recém-Nascido , Doenças do Recém-Nascido , Insuficiência Renal/complicações , Deformidades Congênitas das Extremidades Superiores/complicações , gama-Glutamiltransferase/sangue
11.
BMJ Open ; 8(6): e021377, 2018 06 30.
Artigo em Inglês | MEDLINE | ID: mdl-29961027

RESUMO

INTRODUCTION: Arthrogryposis multiplex congenita (AMC) describes a heterogeneous group of conditions with multiple congenital contractures. These conditions may be attributed to genetic or other factors inducing decreased fetal movements, including maternal and paternal factors. Discovering the underlying genetic pathways has important repercussions for prevention, gene therapy and genetic counselling. The current literature mainly consists of small-scale, single-site studies, limiting comparability and pooling of findings across individual studies. A pilot registry for children presenting with AMC is proposed to provide the framework for a large-scale AMC registry. This registry will provide the platform to support high-quality studies to inform the distribution, clinical practice and genetics contributing to this group of conditions. METHODS AND ANALYSIS: The registry will be piloted on 40 families of children from birth to 21 years of age presenting with AMC. Data will be collected on the child (demographic and newborn variables), mother and father (demographic, lifestyle habits and medical history). To promote standardised data collection, a manual of operations will be developed. Descriptive statistics will be used to summarise relevant data, regression analyses will be used to explore associations to generate hypotheses regarding factors contributing to AMC. Qualitative analysis will also be used to better describe the various phenotypes. ETHICS AND DISSEMINATION: Ethics approval was obtained at the participating sites. The pilot registry will provide the platform for multisite AMC registry that will generate multiple research avenues to enhance current care and establish new therapies. Following this pilot study, the participant selection criteria will be refined and datasets will be expanded to include rehabilitation and surgical interventions, and genetic sequencing. The best timing for the questionnaire administration and frequency of follow-up prior to the implementation of a multisite AMC registry will be determined.


Assuntos
Artrogripose/diagnóstico , Artrogripose/etiologia , Artrogripose/terapia , Sistema de Registros , Adolescente , Criança , Pré-Escolar , Estudos Transversais , Feminino , Humanos , Lactente , Recém-Nascido , Internacionalidade , Masculino , Estudos Multicêntricos como Assunto , Projetos Piloto , Pesquisa , Projetos de Pesquisa , Adulto Jovem
12.
J Med Genet ; 55(8): 505-514, 2018 08.
Artigo em Inglês | MEDLINE | ID: mdl-29959180

RESUMO

Fetal hypokinesia or akinesia encompasses a broad spectrum of disorders, united by impaired movement in utero. Often, the underlying aetiology is genetic in origin, affecting part of the neuromuscular system. The affordable and high-throughput nature of next-generation DNA sequencing has led to an explosion in disease gene discovery across rare diseases, including fetal akinesias. A genetic diagnosis has clinical utility as it may affect management and prognosis and informs recurrence risk, facilitating family planning decisions. More broadly, knowledge of disease genes increasingly allows population-based preconception carrier screening, which has reduced the incidence of recessive diseases in several populations. Despite gains in knowledge of the genetics of fetal akinesia, many families lack a genetic diagnosis. In this review, we describe the developments in Mendelian genetics of neuromuscular fetal akinesia in the genomics era. We examine genetic diagnoses with neuromuscular causes, specifically including the lower motor neuron, peripheral nerve, neuromuscular junction and muscle.


Assuntos
Artrogripose/genética , Estudos de Associação Genética , Predisposição Genética para Doença , Genômica , Animais , Artrogripose/diagnóstico , Artrogripose/mortalidade , Biomarcadores , Diferenciação Celular/genética , Regulação da Expressão Gênica , Estudos de Associação Genética/métodos , Genômica/métodos , Humanos , Neurônios Motores/citologia , Neurônios Motores/metabolismo , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/genética , Doenças do Sistema Nervoso/metabolismo , Junção Neuromuscular/genética , Junção Neuromuscular/metabolismo
14.
BMC Nephrol ; 19(1): 144, 2018 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-29907094

RESUMO

BACKGROUND: Arthrogryposis-Renal dysfunction-Cholestasis syndrome (ARC, MIM#208085) is a rare multisystem disease due to mutations in the VPS33B and VIPAR genes, both involved in maintaining apical-basolateral cell polarity. The correlation between mutations and phenotype in the ARC Syndrome is not well described. We report on a 6 year old patient who presented with severe renal Fanconi as first manifestation of ARC related to a combined de novo mutation in the VPS33B gene. CASE PRESENTATION: A 6 year old girl presented during the first year of life with severe renal Fanconi as the first manifestation of ARC-Syndrome. This case presents all defining features of ARC syndrome (including liver, skin and articular manifestations) with predominantly renal impairment at presentation. This novel mutation may be associated with a pronounced renal phenotype in ARC. Furthermore, we report on the successful use of LDL-Apheresis and biliodigestive derivation for treatment of cholestatic pruritus with encouraging results. CONCLUSION: ARC is a heterogeneous disorder with early mortality. This case report contributes to a better understanding of this rare disorder, describes a novel mutation in the VPS33B gene and presents an innovative rescue treatment approach.


Assuntos
Artrogripose/diagnóstico , Artrogripose/terapia , Colestase/diagnóstico , Colestase/terapia , Gerenciamento Clínico , Síndrome de Fanconi/diagnóstico , Síndrome de Fanconi/terapia , Insuficiência Renal/diagnóstico , Insuficiência Renal/terapia , Índice de Gravidade de Doença , Artrogripose/complicações , Remoção de Componentes Sanguíneos/métodos , Criança , Colestase/complicações , Síndrome de Fanconi/complicações , Feminino , Humanos , Insuficiência Renal/complicações
15.
Diabet Med ; 35(10): 1457-1459, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-29862581

RESUMO

BACKGROUND: Hereditary Neuropathy with liability to Pressure Palsies (HNPP) is an autosomal dominant neuropathy, associated with deletion of the Peripheral Myelin Protein-22 (PMP-22) gene, causing recurrent painless palsies with age of onset between 10 and 30 years old. Only a few cases of Type 2 Diabetes and HNPP have been described and the coexistence of HNPP and Type 1 diabetes has never been reported. CASE REPORT: A 54-year old man with a history of Type 1 diabetes, managed with continuous subcutaneous insulin infusion (CSII), presented with deterioration of long-standing motor and sensory symptoms, previously attributed to golfer's elbow, diabetic neuropathy and spinal degenerative disease. He had multilevel severe spine degenerative changes and L4/L5 and L5/S1 root impingements with a L4/L5 discectomy performed when he was 25 years old. On physical examination he had normal power and distal hypoaesthesia of the digits and plantar aspect of the feet. Investigations revealed normal full blood count, liver and renal function, electrolytes, vitamin B12 and serum folate. He suffered from primary hypothyroidism and thyroid function tests indicated adequate levothyroxine replacement. Nerve conduction studies revealed a generalized demyelinating sensorimotor neuropathy, with more severe involvement of nerves over entrapment sites. Further history that his father suffered from episodes of weakness and numbness was elicited. Genetic analysis revealed one copy of the PMP22 gene at 17p11.2 confirming the diagnosis of HNPP. CONCLUSION: In people with diabetes the evaluation of peripheral neuropathy should include a careful history, a comprehensive physical examination, blood tests and in some cases nerve conduction studies and genetic testing.


Assuntos
Artrogripose/complicações , Artrogripose/diagnóstico , Diabetes Mellitus Tipo 1/complicações , Neuropatias Diabéticas/diagnóstico , Neuropatia Hereditária Motora e Sensorial/complicações , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico , Artrogripose/genética , Cromossomos Humanos Par 17/genética , Diabetes Mellitus Tipo 1/genética , Diagnóstico Diferencial , Testes Genéticos , Neuropatia Hereditária Motora e Sensorial/genética , Humanos , Masculino , Pessoa de Meia-Idade , Proteínas da Mielina/genética , Doenças do Sistema Nervoso Periférico/genética
16.
Codas ; 30(2): e20170181, 2018.
Artigo em Inglês, Português | MEDLINE | ID: mdl-29791621

RESUMO

Arthrogryposis is a rare, multiple, congenital syndrome of non-progressive nature characterized by a series of genetic malformations, as well as stiffness and joint contractures. This is a clinical case study whose objective is to describe speech-language pathology disorders through the evaluation process in a case of arthrogryposis in Pediatrics. The medical records of a patient were analyzed from birth. A complete clinical evaluation of pediatric dysphagia was performed, establishing a diagnosis of severe oropharyngeal dysphagia evidenced by functional and structural impairments. Hearing loss was detected in association with this condition.


Assuntos
Artrogripose/diagnóstico , Transtornos de Deglutição/diagnóstico , Cabeça/anormalidades , Pescoço/anormalidades , Distúrbios da Fala/diagnóstico , Artrogripose/complicações , Transtornos de Deglutição/etiologia , Humanos , Lactente , Masculino , Índice de Gravidade de Doença , Distúrbios da Fala/etiologia
17.
Prosthet Orthot Int ; 42(4): 402-409, 2018 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-29775129

RESUMO

BACKGROUND: Joint contractures are the main characteristics for children with arthrogryposis multiplex congenita. Orthoses are often used to enable or facilitate walking. OBJECTIVES: To describe health-related quality of life in children with arthrogryposis multiplex congenita and satisfaction with orthoses in those using orthoses. STUDY DESIGN: Cross-sectional study. METHODS: A total of 33 children with arthrogryposis multiplex congenita participated in the study. Questionnaires were used which measured health-related quality of life (Child Health Questionnaire-Parent Form and EQ-5D youth), mobility and self-care (Paediatric Evaluation of Disability Inventory) and satisfaction with orthoses (Quebec User Evaluation of Satisfaction with Assistive Technology 2.0). Children were divided into groups based on the use of orthoses: Ort-D were dependent on orthoses for walking, Ort-ND used orthoses but were not dependent on them for walking and Non-Ort did not use orthoses. RESULTS: Children with arthrogryposis multiplex congenita had significantly lower Child Health Questionnaire scores in 9 of 12 subscales compared to healthy controls. The children's reported perceived health with EQ-5D youth did not show any difference between children using orthoses or children using only shoes. Paediatric Evaluation of Disability Inventory showed less mobility in Ort-D than in Non-Ort. In total, both orthosis groups were 'quite satisfied' with their orthoses. CONCLUSION: Child Health Questionnaire-physical functioning was lowest in children who were dependent on orthoses (Ort-D) for walking. Both Ort-D and Ort-ND were similar satisfied with their orthoses. Clinical relevance This study contributes to knowledge about health-related quality of life in a group of ambulatory children with arthrogryposis multiplex congenita. For children using orthoses, it is relevant to capture their opinion about their orthoses but a questionnaire specifically for children should be developed.


Assuntos
Artrogripose/reabilitação , Avaliação da Deficiência , Qualidade de Vida , Inquéritos e Questionários , Adaptação Fisiológica , Adolescente , Fatores Etários , Artrogripose/diagnóstico , Artrogripose/psicologia , Criança , Pré-Escolar , Estudos Transversais , Feminino , Órtoses do Pé , Hospitais Universitários , Humanos , Masculino , Valores de Referência , Equipamentos de Autoajuda , Fatores Sexuais , Suécia
18.
Medicine (Baltimore) ; 97(16): e9922, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29668644

RESUMO

RATIONALE: Popliteal cyst developing in the sheath of a peripheral nerve or joint capsule may cause compression neuropathy. Although popliteal cyst is very common lesion, it seldom causes serious complications. Common peroneal nerve compression is rarely caused by an extraneural popliteal cyst. PATIENT CONCERNS: We presented the case of a 52-year-old female with common peroneal nerve compression caused by an extraneural popliteal cyst. DIAGNOSES: Electromyography showed the damage of common peroneal nerve. MRI magnetic resonance imaging showed the lump to be a popliteal cyst. She was diagnosed as peroneal nerve injury and popliteal cyst. INTERVENTIONS: The patient was performed peroneal nerve decompression and popliteal cyst excision surgery. We excised the cyst completely and soluted the common peroneal nerve thoroughly. The cyst was filled with thick mucinous material. OUTCOMES: The pathological report showed that the excised mass was a popliteal cyst. There were no postoperative complications. Pain and hypoesthesia resolved 6 months after surgery. LESSONS: In this case, compression of the common peroneal nerve was due to an extraneural popliteal cyst, a situation rarely encountered. MRI can show in better detail their size and internal contents as well as their relation with surrounding anatomic structures. Patients with nerve entrapment caused by enlarged or ruptured cysts must be microsurgically excised if symptomatic.


Assuntos
Artrogripose , Neuropatia Hereditária Motora e Sensorial , Procedimentos Ortopédicos/métodos , Neuropatias Fibulares , Cisto Popliteal , Artrogripose/diagnóstico , Artrogripose/etiologia , Artrogripose/fisiopatologia , Artrogripose/cirurgia , Descompressão Cirúrgica/métodos , Dissecação/métodos , Eletromiografia/métodos , Feminino , Neuropatia Hereditária Motora e Sensorial/diagnóstico , Neuropatia Hereditária Motora e Sensorial/etiologia , Neuropatia Hereditária Motora e Sensorial/fisiopatologia , Neuropatia Hereditária Motora e Sensorial/cirurgia , Humanos , Imagem por Ressonância Magnética/métodos , Pessoa de Meia-Idade , Neuropatias Fibulares/diagnóstico , Neuropatias Fibulares/etiologia , Neuropatias Fibulares/fisiopatologia , Neuropatias Fibulares/cirurgia , Cisto Popliteal/complicações , Cisto Popliteal/diagnóstico , Cisto Popliteal/diagnóstico por imagem , Recuperação de Função Fisiológica , Resultado do Tratamento
19.
Neurology ; 90(18): e1596-e1604, 2018 05 01.
Artigo em Inglês | MEDLINE | ID: mdl-29626181

RESUMO

OBJECTIVE: To understand the disability of adults with arthrogryposis multiplex congenita (AMC), a rare disease spectrum characterized by at least 2 joint contractures at birth in different body areas. METHODS: This is a retrospective analysis of data for unselected persons with AMC referred to the French center for adults with AMC from 2010 to 2016. All underwent a pluriprofessional systematic and comprehensive investigation of deficits, activity limitation, and participation restriction according to the International Classification of Functioning, Disability and Health and genetic analysis when indicated. Participants were divided by amyoplasia and other AMC types. RESULTS: Mean (SD) age of the 43 participants (27 female) was 33.2 (13.4) years; 28 had amyoplasia and 15 other types of AMC. Beyond joint stiffness, deformities, and muscle weakness, the well-known core symptoms that we quantified and for which first-line treatment involved technical aids, other less visible disorders that could contribute to severe participation restriction were particularly pain and psychological problems including anxiety, fatigue, difficulty in sexual life, altered self-esteem, and feelings of solitude. Severe respiratory disorders were infrequent and were linked to PIEZO2 mutations. Gait disorders were not due to respiratory impairment but to skeletal problems and were always associated with amyoplasia when severe. Functional independence was worse but respiratory and swallowing capacities were better with amyoplasia than other AMC types. CONCLUSION: This study describes disability patterns of a cohort of adults with AMC by genotype. The disability of adults with AMC is influenced by genotype, with important invisible disability.


Assuntos
Artrogripose/diagnóstico , Artrogripose/genética , Adulto , Artrogripose/epidemiologia , Artrogripose/fisiopatologia , Avaliação da Deficiência , Feminino , Humanos , Canais Iônicos/genética , Masculino , Mutação , Estudos Prospectivos , Estudos Retrospectivos
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