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Objective: To evaluate patients with arthrogryposis submitted to extensive surgical treatment with a minimum of 10 years of follow-up regarding the clinical and radiological aspects and the quality of life, using the 36-Item Short Form (SF-36) and the Disease-Specific Instrument (DSI). Methods: A retrospective study selected 33 patients, totaling 64 operated feet. Results: The mean age of the patients was 17.9 years (12-39 years), and the mean follow-up time was 14.8 years (11-17). Amyoplasia represented 78.7% of syndromic diagnoses. Isolated posteromedial lateral release (PMLR) was performed in 21.8% of the feet, 27.2% of which required additional bone surgery, and about 50 feet (78.1%) were submitted to PMLR, lateral column shortening, and/or talectomy. In total, 46 talectomies were performed (71.8% of the feet), out of which 44 were the first procedure of choice. SF-36 questionnaire was evaluated and showed that 93.9% of the patients did not have restrictive and disabling pain, and the same percentage considered themselves as healthy and had good expectations for the future. Conclusion: Arthrogrypotic feet are difficult to treat, require many recurrent surgical procedures, and relapses are the rule. Stiffness is a common feature of these feet, and residual deformities were frequent. Level of Evidence IV; Case Series, Therapeutic Studies.
Objetivo: Avaliar pacientes com artrogripose submetidos a tratamento cirúrgico convencional com um mínimo de 10 anos de seguimento quanto aos aspectos clínicos, radiológicos e qualidade de vida, utilizando o questionário de 36 itens Short Form 36 (SF-36) e o Instrumento específico de Doenças (IED). Método: No estudo retrospectivo foram avaliados 33 pacientes, totalizando 64 pés operados. Resultados: A média de idade foi de 17,9 anos (12-39 anos), e o tempo médio do seguimento foi de 14,8 anos (11-17). A amioplasia representou 78,7% dos diagnósticos sindrômicos. A liberação posteromedial lateral isolada (LP MI) foi realizada em 21,8% dos pés, 27,2%, com cirurgia óssea adicional, e cerca de 50 pés (78,1%) foram submetidos a LPM (liberação póstero medial), encurtamento da coluna lateral e/ou talectomia. Foram realizadas 46 talectomias (71,8% dos pés), sendo em 44 o procedimento de primeira escolha. O questionário SF-36 evidneciou que 93,9% dos pacientes estavam sem dor restritiva e incapacitante, consideravam-se saudáveis, com boas expectativas para o futuro. Conclusão: Os pés artrogripóticos são de difícil tratamento, requerendo muitos procedimentos cirúrgicos recorrentes. A rigidez é uma característica comum desses pés e as deformidades residuais foram frequentes. Estudos futuros poderão mostrar se haverá diferença no resultado do tratamento desses pés aplicando a abordagem inicial atual, mais conservadora. Nível de Evidência: IV; Estudos Terapêuticos; Série de Casos.
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Purpose: The aim of this systematic review was to address the Ponseti method in arthrogrypotic clubfoot treatment and evaluate the success, complication, and recurrence rates. Method: A systematic review was performed in the PubMed, Scopus, Embase, and Web of Science databases on 9 January 2023, according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Success, recurrence, and complication rates were evaluated and analyzed. Risks of bias and the quality of the studies were also evaluated. Results: Five case series, including 53 patients (102 feet), were identified. According to this model, the initial success rate was 91% (95% confidence interval = 0.79-0.96) with I2 = 43%, and the final success was 68% (at 5.8 years of follow-up). Recurrence rate was 30% (95% confidence interval = 0.14-0.52). Conclusion: Ponseti method is indicated in the initial treatment of arthrogrypotic clubfeet, as it is a minimally invasive method with a high correction rate (91%). However, a high recurrence rate (30%) requires early detection and adequate treatment. Level of evidence: Level III. PROSPERO Protocol: CRD42020210373.
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ABSTRACT Objective: To evaluate patients with arthrogryposis submitted to extensive surgical treatment with a minimum of 10 years of follow-up regarding the clinical and radiological aspects and the quality of life, using the 36-Item Short Form (SF-36) and the Disease-Specific Instrument (DSI). Methods: A retrospective study selected 33 patients, totaling 64 operated feet. Results: The mean age of the patients was 17.9 years (12-39 years), and the mean follow-up time was 14.8 years (11-17). Amyoplasia represented 78.7% of syndromic diagnoses. Isolated posteromedial lateral release (PMLR) was performed in 21.8% of the feet, 27.2% of which required additional bone surgery, and about 50 feet (78.1%) were submitted to PMLR, lateral column shortening, and/or talectomy. In total, 46 talectomies were performed (71.8% of the feet), out of which 44 were the first procedure of choice. SF-36 questionnaire was evaluated and showed that 93.9% of the patients did not have restrictive and disabling pain, and the same percentage considered themselves as healthy and had good expectations for the future. Conclusion: Arthrogrypotic feet are difficult to treat, require many recurrent surgical procedures, and relapses are the rule. Stiffness is a common feature of these feet, and residual deformities were frequent. Level of Evidence IV; Case Series, Therapeutic Studies.
RESUMO Objetivo: Avaliar pacientes com artrogripose submetidos a tratamento cirúrgico convencional com um mínimo de 10 anos de seguimento quanto aos aspectos clínicos, radiológicos e qualidade de vida, utilizando o questionário de 36 itens Short Form 36 (SF-36) e o Instrumento específico de Doenças (IED). Método: No estudo retrospectivo foram avaliados 33 pacientes, totalizando 64 pés operados. Resultados: A média de idade foi de 17,9 anos (12-39 anos), e o tempo médio do seguimento foi de 14,8 anos (11-17). A amioplasia representou 78,7% dos diagnósticos sindrômicos. A liberação posteromedial lateral isolada (LP MI) foi realizada em 21,8% dos pés, 27,2%, com cirurgia óssea adicional, e cerca de 50 pés (78,1%) foram submetidos a LPM (liberação póstero medial), encurtamento da coluna lateral e/ou talectomia. Foram realizadas 46 talectomias (71,8% dos pés), sendo em 44 o procedimento de primeira escolha. O questionário SF-36 evidneciou que 93,9% dos pacientes estavam sem dor restritiva e incapacitante, consideravam-se saudáveis, com boas expectativas para o futuro. Conclusão: Os pés artrogripóticos são de difícil tratamento, requerendo muitos procedimentos cirúrgicos recorrentes. A rigidez é uma característica comum desses pés e as deformidades residuais foram frequentes. Estudos futuros poderão mostrar se haverá diferença no resultado do tratamento desses pés aplicando a abordagem inicial atual, mais conservadora. Nível de Evidência: IV; Estudos Terapêuticos; Série de Casos.
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Objetivos: Describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: Mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: La realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.
Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old woman currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.
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Humanos , Femenino , Embarazo , Diagnóstico Prenatal , Artrogriposis , Síndrome , Exoma , Pie ZamboRESUMEN
BACKGROUND: Wieacker-Wolff syndrome is an ultra-rare disease with X-linked inheritance characterized by arthrogryposis, intellectual disability, microcephaly, and distal limb muscle atrophy. Ophthalmic abnormalities such as ptosis, strabismus, and oculomotor apraxia have been reported in half of the patients. Wieacker-Wolff syndrome female-restricted (WRWFFR) is an even rarer disease recently used for females with a more severe phenotype. MATERIALS AND METHODS: Clinical geneticist and ophthalmic examination, neuroimaging, and exome sequencing. RESULTS: A 4 years-old girl with developmental and language delay, microcephaly, camptodactyly, digital pads, and arthrogryposis was identified by the clinical geneticist. Ophthalmic examination revealed deep-set eyes, high hyperopic astigmatism in both eyes, and reduced retinal nerve fiber layer thickness measured by optical coherence tomography. Exome sequencing identified a novel, probably pathogenic variant in the ZC4H2 gene NM_018684.3:c.145A>T p. (Lys49*) in heterozygosis. DISCUSSION: WRWFFR is an ultra-rare disease with X-linked inheritance by variants in the ZC4H2 gene. This case reports a girl with a novel nonsense variant in the ZC4H2 gene and a severe phenotype; previous reports have identified WRWFFR in females with large deletions and nonsense mutations which could explain the manifestations in the current case report. A complete ophthalmic examination should be considered in patients with WRWFFR to detect the possibly associated optic nerve involvement and other previously described manifestations such as ptosis and strabismus.
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Artrogriposis , Discapacidad Intelectual , Microcefalia , Estrabismo , Humanos , Femenino , Preescolar , Artrogriposis/genética , Microcefalia/genética , Enfermedades Raras , Discapacidad Intelectual/genética , Nervio Óptico , Proteínas Nucleares , Péptidos y Proteínas de Señalización IntracelularRESUMEN
Introducción: Los trastornos congénitos músculo-esqueléticos presentan frecuentemente malformaciones de cadera que afectan la marcha y actividades funcionales, por ello la importancia de detectarlas oportunamente. Objetivo: Determinar la presencia de displasia y luxación de la cadera en niños con alteraciones congénitas que asisten a un instituto nacional de rehabilitación. Material y Métodos: Estudio observacional, descriptivo, retrospectivo y transversal con 150 historias clínicas de niños de 0 a 2 años con alteraciones congénitas con afectación músculo-esquelética. Resultados: Los pacientes presentaron una mediana de edad de 11 meses y 64 % fue del sexo femenino. La alteración más frecuente fue la deformidad congénita de la cadera con 52 %, seguida de la espina bífida, deformidad congénita del ECOM, artrogriposis múltiple y deformidad congénita de los pies con 23,3 por ciento, 6,7 por ciento, 5,3 por ciento y 4 por ciento respectivamente. El 17,3 por ciento de los pacientes con alteraciones congénitas tenía luxación, 56,7 por ciento displasia y 72,7 por ciento alguna de las dos. En los pacientes con deformidad congénita de la cadera, 100 por ciento tenía displasia y/o luxación. En los pacientes con espina bífida, 54,3 por ciento al menos una de ellas. El 75 por ciento de los pacientes con artrogriposis múltiple y 33,3 por ciento de los que tenían deformidades congénitas de los pies presentaron displasia y/o luxación. Conclusiones: La displasia y/o luxación de cadera son frecuentes en niños con diagnóstico de deformidad congénita de cadera, espina bífida, artrogriposis múltiple congénita y deformidades congénitas de los pies(AU)
Introduction: Congenital musculoskeletal disorders often present hip malformations that affect gait and functional activities, therefore the importance of detecting them in a timely manner. Objective: To determine the presence of dysplasia and hip dislocation in children with congenital disorders who attend a national rehabilitation institute. Material and Methods: An observational, descriptive, retrospective and cross-sectional study was conducted using 150 medical records of children from 0 to 2 years of age with congenital disorders with musculoskeletal involvement. Results: The patients had a median age of 11 months and 64 percen were female. The most frequent alteration was congenital deformity of the hip (52 percent), followed by spina bifida, congenital deformity of the ECOM, multiple arthrogryposis, and congenital deformity of the feet (23.3 percen, 6.7 percen, 5.3 percen and 4 percen, respectively). In addition, 17.3 percen of patients with congenital abnormalities had dislocation, 56.7 percen had dysplasia and 72.7 percen had either of the two. In patients with congenital hip deformity, 100% had dysplasia and/or dislocation. In patients with spina bifida, 54.3 percen had at least one of them. Moreover, 75 percen of patients with arthrogryposis multiplex and 33.3 percen of those with congenital deformities of the feet presented dysplasia and/or dislocation. Conclusions: Dysplasia and/or dislocation of the hip are common in children with a diagnosis of congenital hip deformity, spina bifida, congenital arthrogryposis multiplex, and congenital foot deformities(AU)
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Humanos , Recién Nacido , Lactante , Preescolar , Epidemiología DescriptivaRESUMEN
Objectives: To describe a case of prenatal diagnosis of Freeman-Sheldon syndrome based on ultrasound findings and complete fetal exome sequencing. Materials and methods: A 33-year-old patient currently on treatment for hypothyroidism in whom a 19-week detailed anatomical ultrasound scan showed fetal deformities in more than two body areas (upper and lower limbs), suggesting a diagnosis of arthrogryposis. Genetic counseling was provided and amniocentesis was performed at 20 weeks for fluorescence in situ hybridization (FISH) analysis and complete fetal exome sequencing, with the latter allowing the identification of a heterozygous pathogenic variant of the MYH3 gene which is associated with type 2A distal arthrogryposis. Conclusions: Complete fetal exome sequencing was a key factor in identifying the MYH3 gene mutation and confirmed that the deformities seen on ultrasound were associated with type 2A distal arthrogryposis. It is important to perform complete fetal exome sequencing in cases of joint malformations seen on prenatal ultrasound.
Objetivos: describir un caso de diagnóstico prenatal de síndrome de Freeman-Sheldon mediante hallazgos ecográficos y secuenciación completa del exoma fetal. Materiales y métodos: mujer de 33 años, con antecedentes de hipotiroidismo en tratamiento, a quien en semana 19 se realizó ecografía de detalle anatómico, en la cual se observaron deformidades en el feto en más de dos áreas corporales (extremidades superiores e inferiores), sugiriendo el diagnóstico de artrogriposis. Posteriormente, se brindó asesoría genética y se realizó amniocentesis en semana 20 de gestación, con análisis de la hibridación in situ por fluorescencia, seguido de secuenciación completa del exoma fetal. Este último examen permitió identificar una variante patogénica heterocigota en el gen MYH3, la cual se asocia con la artrogriposis distal tipo 2A. Conclusiones: la realización de la secuenciación completa de exoma fetal es un factor clave para identificar la mutación del gen MYH3, y confirma que las deformidades evidenciadas por ultrasonido estaban relacionadas con la artrogriposis distal tipo 2A. Es importante hacer la secuenciación de exoma fetal en fetos que muestren hallazgos de malformaciones articulares en el ultrasonido prenatal.
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RESUMEN Introducción: El síndrome de Freeman-Sheldon es un síndrome hereditario raro, de severidad variable que afecta principalmente la cara, manos y pies, sin preferencia de género, étnica o geográfica. Objetivo: Caracterizar clínicamente a un paciente con síndrome Freeman-Sheldon. Presentación del caso: Niña ecuatoriana de 6 años de edad, hija de madre de 43 años y padre de 42 años, la cuarta de 6 hermanos, todos sanos, no historia de consanguinidad. La cual presenta cara parecida a una máscara, ojos hundidos, puente nasal ancho, boca pequeña con apariencia de silbador, hoyuelo cutáneo en mentón en forma de H, defecto en las manos, contractura de los dedos con desviación cubital y pies equinovaro, dificultad para la marcha y baja talla. Conclusiones: El síndrome de Freeman-Sheldon es un síndrome raro que afecta principalmente la cara y las extremidades de los pacientes, cuyo diagnóstico clínico es posible luego de un examen físico exhaustivo.
ABSTRACT Introduction: Freeman-Sheldon syndrome is a rare hereditary syndrome of varying severity that mainly affects the face, hands and feet, without gender, ethnic or geographical preference. Objective: Clinically characterize a patient with Freeman-Sheldon syndrome. Presentation of the case: Ecuadorian girl, 6 years old, daughter of mother of 43 years and father of 42 years, the fourth of 6 brothers, all healthy, not history of consanguinity. She presents mask-like face, sunken eyes, wide nasal bridge, small mouth with the appearance of a whistler, skin dimple on the chin in the shape of an H, defect in the hands, contracture of the fingers with ulnar deviation and clubfoot, also walking difficulty and short height. Conclusions: Freeman-Sheldon syndrome is a rare syndrome that mainly affects the face and limbs of patients, whose clinical diagnosis is possible after a thorough physical examination.
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The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death. Additional features include ichthyosis, central nervous system malformations, platelet dysfunction, and severe failure to thrive. We studied three patients with cholestasis, increased aminotransferases, normal gamma-glutamyl transferase, and developmental and language delay. Whole exome sequencing analysis identified VPS33B variants in all patients: patients 1 and 2 presented a novel homozygous variant at position c.1148T>A. p.(Ile383Asn), and patient 3 was compound heterozygous for the same c.1148T>A. variant, in addition to the c.940-2A>G. variant. ARCS is compatible with the symptomatology presented by the studied patients. However, most patients that have been described in the literature with ARCS had severe failure to thrive and died in the first 6 months of life. The three patients studied here have a mild ARCS phenotype with prolonged survival. Consequently, we believe that the molecular analysis of the VPS33B and VIPAS39 should be considered in patients with normal gamma-glutamyl transferase cholestasis.
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BACKGROUND: Platelet α-granule biogenesis in precursor megakaryocytes is critically dependent on VPS33B and VPS16B, as demonstrated by the platelet α-granule deficiency seen in the rare multisystem disorder arthrogryposis, renal dysfunction, and cholestasis (ARC) syndrome associated with biallelic pathogenic variants in VPS33B and VIPAS39 (encoding VPS16B). VPS33B and VPS16B are ubiquitously expressed proteins that are known to interact and play key roles in protein sorting and trafficking between subcellular locations. However, there remain significant gaps in our knowledge of the nature of these interactions in primary cells from patients with ARC syndrome. OBJECTIVES: To use primary cells from patients with ARC syndrome to better understand the interactions and roles of VPS33B and VPS16B in platelets and precursor megakaryocytes. PATIENTS/METHODS: The proband and his male sibling were clinically suspected to have ARC syndrome. Confirmatory genetic testing and platelet phenotyping, including electron microscopy and protein expression analysis, was performed with consent in a research setting. RESULTS: We describe the first case of ARC syndrome identified in Costa Rica, associated with a novel homozygous nonsense VPS33B variant that is linked with loss of expression of both VPS33B and VPS16B in platelets. CONCLUSION: These results indicate that stable expression of VPS16B in platelets, their precursor megakaryocytes, and other cells is dependent on VPS33B. We suggest that systematic evaluation of primary cells from patients with a range of VPS33B and VIPAS39 variants would help to elucidate the interactions and functions of these proteins.
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Artrogriposis , Colestasis , Artrogriposis/diagnóstico , Artrogriposis/genética , Artrogriposis/metabolismo , Plaquetas/metabolismo , Colestasis/diagnóstico , Colestasis/genética , Colestasis/metabolismo , Humanos , Masculino , Insuficiencia Renal , Hermanos , Proteínas de Transporte Vesicular/genética , Proteínas de Transporte Vesicular/metabolismoRESUMEN
RESUMEN La artrogriposis múltiple congénita es una enfermedad de baja frecuencia, esporádica, no progresiva, que aparece en el período prenatal y se caracteriza por varias contracturas articulares presentes al nacimiento en los cuatro miembros. Se estima una incidencia de 1/10 000 nacidos vivos. El diagnóstico es posible al realizar los ultrasonidos en un feto que tiene posiciones viciosas y que no se mueve. La prevalencia de la artrogriposis múltiple congénita es variable, resultando la más frecuente la artrogriposis múltiple clásica (amioplasia), presente entre el 40 y el 50 % de los afectados. La búsqueda ultrasonográfica en el tercer trimestre del embarazo es fundamental con fines diagnósticos, para brindar asesoramiento genético y preparar un equipo para el nacimiento. Es importante tener sospecha diagnóstica para sugerir la vía alta por cesárea, para bienestar fetal. Un grupo multidisciplinario debe llevar a cabo el manejo y tratamiento de estos enfermos. Se presenta el caso de un neonato nacido a las 39 semanas por parto eutócico prolongado por presentación de cara, con sufrimiento fetal agudo, meconio ++++, apgar 5-7, con peso de 3 300 g, que presentó luxación y contractura generalizada de hombros, codos, así como de caderas, rodillas y tobillos, con dedos de manos y pies en flexión.
ABSTRACT Congenital multiple arthrogryposis is a low-frequency, sporadic, non-progressive disease that appears in the prenatal period, and is characterized by several contractures present at birth in the four limbs. The estimated incidence is 1/10 000 born alive. The diagnosis is possible performing ultrasounds on a fetus that has vicious positions and does not move. The prevalence of congenital multiple arthrogryposis is variable, being classical multiple arthrogryposis (amyoplasia) the most frequent one, present in between 40 and 50 % of the affected persons. Ultrasonographic search in the third semester of pregnancy is essential for diagnostic purposes to provide genetic counseling and to prepare a ream for birth. It is important to have diagnostic suspicion to suggest the high cesarean way for fetal well-being. A multidisciplinary group should carry out the management and treatment of these patients. The case of a newborn is presented, who was born at 39 weeks by prolonged eutocic delivery due to presenting face, with acute fetal suffering, meconium ++++, apgar 5-7, weighing 3 300 g, that presented luxation and general contracture of shoulders, elbows, and also hips, knees and ankles, with fingers and toes in flexion.
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Humanos , Recién Nacido , Artrogriposis/diagnóstico , Artrogriposis/etiología , Artrogriposis/fisiopatología , Pediatría , Artrogriposis/sangre , Artrogriposis/epidemiología , Asesoramiento Genético , Genética Médica , NeurologíaRESUMEN
Background: Congenital malformations are anomalies, structural or functional, that occur during the embryonic or fetal phase. There are several causes, one of which is the ingestion of toxic plants. Considering the importance of native toxic plants in the Central Backlands of Ceará state - Brazil, this paper reports cases of congenital malformations in sheep due to ingestion of Mimosa tenuiflora. Cases: Cases of abortion and malformations in sheep, were monitored in a rural property in the municipality of Piquet Carneiro with 20 ruminants (15 sheep and 5 cows) raised on a semi-intensive regime. The animals grazed during the day and were supplemented with corn, having unrestricted access to dam water. On its margins, there was a large amount of jurema preta (Mimosa tenuiflora), which the owner reported that the sheep consumed daily. The owner was unaware of the toxicity of M. tenuiflora but reported that cases of malformations had already occurred on his property some time ago. In an interval of approximately 12 days, 3 sheep miscarriage fetuses with multiple malformations. Malformed fetuses were referred for anatomopathological examination at the Animal Pathology Laboratory of the Veterinary Hospital of Federal University of Campina Grande (UFCG), Campus Patos, Paraíba, Brazil. The fetuses were necropsied and tissue samples of the nervous system and organs from the thoracic and abdominal cavities were collected, fixed in 10% neutral buffered formalin, routinely processed for histopathology, included in paraffin, cut into 3 µm sections and stained with hematoxylin and eosin (HE). At necropsies were observed permanent contracture of the thoracic limb joints (arthrogryposis), particularly at the radio-carpal joints; incomplete medial fusion of the palatal bone, with communication between the oral and nasal cavities (palatoschisis); hypoplasia of the mandibular bone (micrognathia); unilateral hypoplasia of the incisive bone with discontinuity of the upper lip (cheiloschisis); unilateral hypoplasia of the eyeball (microphthalmia); lateral curvature of the cervical spine (scoliosis); and chest deformity characterized by ventral protrusion of the sternum and ribs (Pectus carinatum). At the histopathological evaluation of the tissues, no alterations were observed. Discussion: The diagnosis was based on the epidemiological, clinical, and anatomopathological findings. The semi-intensive management system applied on the property predisposed the sheep to ingestion of M. tenuiflora, which grows abundantly on the property and throughout the Central Backlands of Ceará, Brazil, with a high rate of geographical coverage. Despite that, most rural producers, especially subsistence farmers, are unaware of the toxic and teratogenic properties of the plant. In the northeastern, where there are long periods of drought coupled with forage shortages, poisoning by M. tenuiflora is a common cause of malformation and mortality in lambs. Therefore, it is necessary to adopt preventive measures in herds, such as raising awareness among producers about the toxic potential of some native plants and the practice of producing and supplying silage to animals, so that native toxic plants are not the only food source during the scarcity period.
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Animales , Femenino , Artrogriposis/veterinaria , Ovinos/anomalías , Labio Leporino/veterinaria , Mimosa/toxicidad , Plantas Tóxicas , Anomalías Congénitas/veterinariaRESUMEN
Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.
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Zika virus was recognized as a teratogen in 2015, when prenatal Zika infection was associated with neonatal microcephaly. The transmission, virulence, tropism, and consequences of Zika virus infection during pregnancy are currently studied. Decreased neural progenitor cells, arrest in neuronal migration and/or disruption of the maturation process of the fetus central nervous system have been associated. Congenital Zika Syndrome produces a fetal brain disruption sequence resulting in structural brain abnormalities, microcephaly, intracranial calcifications, fetal akinesia and arthrogryposis. Vascular abnormalities like unique umbilical artery and decreased cerebral vascular flow have been described in some patients. This article reports a Zika positive patient with sequence of fetal brain disruption, arthrogryposis and absence of distal third of the right forearm. This report expands the clinical observations of congenital Zika syndrome that may be related to disruptive vascular events.
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Fetal akinesia deformation sequence (FADS), or Pena-Shokeir phenotype is a constellation of deformational changes resulting from decreased or absent fetal movement, and include arthrogryposis, and craniofacial and central nervous system anomalies. We report an autopsy case of a 36-6/7week female neonate with a normal female karyotype and chromosome microarray demonstrating findings consistent with FADS. We provide a detailed examination of the severe and complex central nervous system abnormalities, including marked pontocerebellar hypoplasia and cortical and cerebellar migration and gyration defects. This case represents a rare detailed examination of the central nervous system of a patient with FADS.
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Humanos , Femenino , Recién Nacido , Artrogriposis/patología , Fenotipo , Autopsia , Sistema Nervioso Central/anomalías , Cuerpo Calloso/patología , Movimiento Fetal , CariotipoRESUMEN
ABSTRACT Introduction: Arthrogryposis multiplex congenita is a disorder characterized by non-progressive joint contractures. It has an estimated prevalence of 1 in every 3 000-5 000 live births, with the same male-to-female ratio. Case presentation: This is the case of a male newborn with adequate prenatal care checkup appointments, who presented with a congenital deformity of the lower limbs. On physical examination, he had hyperextension of the knees (passive flexion of 20° in the left leg and 30° in the right leg), and painful active movement. On admission, peripheral pulses had good intensity, and adequate distal perfusion was found. Barlow and Ortolani maneuvers were negative, and no midline lesions were observed in the spine. The patient was diagnosed with arthrogryposis multiplex congenita and received multidisciplinary treatment to avoid early morbidity and mortality. Conclusion: To attain satisfactory clinical development in patients with arthrogryposis, it is essential to have a high level of antenatal suspicion, as well as appropriate prenatal checkups. All this allows for proper management, minimizing diagnostic errors, avoiding unnecessary procedures, and performing effective and timely treatment with outstanding results.
RESUMEN Introducción. La artrogriposis múltiple congénita es un desorden caracterizado por contracturas articulares no progresivas y que tiene una prevalencia estimada de 1 caso por cada 3 000-5 000 nacidos vivos con igual proporción entre géneros. Presentación del caso. Paciente masculino recién nacido con adecuados controles prenatales, quien al nacimiento presentó deformidad en miembros inferiores debido a hiperextensión de las rodillas (flexión pasiva de 20° en pierna izquierda y 30° en pierna derecha) que provocaba dolor a la movilización activa. Al ingreso se registró perfusión distal adecuada y pulsos periféricos simétricos y de buena intensidad; las maniobras de Ortolani y Barlow fueron negativas y no se evidenciaron lesiones en la línea media del dorso. El paciente fue diagnosticado con artrogriposis múltiple congénita y recibió tratamiento multidisciplinario que evitó morbi-mortalidad temprana. Conclusión. La sospecha prenatal, el examen físico exhaustivo y el diagnóstico diferencial son de vital importancia para lograr una evolución clínica satisfactoria en la artrogriposis múltiple congénita; con esto es posible hacer un manejo adecuado, minimizar los errores diagnósticos, evitar procedimientos innecesarios y realizar un tratamiento efectivo y oportuno con excelentes resultados.
RESUMEN
Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)
Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)
Asunto(s)
Animales , Bovinos , Artrogriposis/patología , Artrogriposis/veterinaria , Enfermedades de los Bovinos/congénito , Uruguay , Atrofia Muscular/veterinariaRESUMEN
Arthrogryposis multiplex congenita is reported for the first time in the Aberdeen Angus (AA) breed in Uruguay. In a commercial herd of 30 purebred Aberdeen Angus cows, two calves with severe musculoskeletal malformations died at birth. The cows had been inseminated using semen imported from Argentina from one elite AA sire only. At necropsy, one calf showed severe muscular atrophy, arthrogryposis affecting all four limbs and the spine, kyphoscoliosis and torticollis. Histopathology showed muscular atrophy with marked fiber size variation and abundant fibroadipose fibers. The central nervous system only showed congestion and edema due to dystocia, whereas the peripheral nerves and the number of motor neurons in the spinal appeared normal. DNA analysis confirmed arthrogryposis multiplex congenita. It is concluded that disease in Aberdeen Angus cattle is due to failure in the neuromuscular junction.(AU)
Artrogripose múltipla congênita é relatada pela primeira vez em bovinos Aberdeen Angus (AA) no Uruguai. Num rebanho comercial de 30 vacas a Aberdeen Angus, dois bezerros com graves malformações musculoesqueléticas morreram logo após o nascimento. As vacas foram inseminadas utilizando sêmen importado da Argentina, de apenas um touro de elite de AA. Na necropsia, um dos bezerros apresentava atrofia muscular grave, artrogripose afetando todos os quatro membros e a coluna vertebral, cifoscoliose e torcicolo. A histopatologia demonstrou atrofia muscular com acentuadas variações no tamanho das fibras e abundantes fibras fibroadiposas. O sistema nervoso central apresentava apenas congestão e edema devido à distocia, enquanto os nervos periféricos e o número de neurônios motores na medula espinhal pareciam normais. A análise de DNA confirmou artrogripose múltipla congênita. Concluiu-se que a doença em bovinos Aberdeen Angus se deve a falha na junção neuromuscular.(AU)
Asunto(s)
Animales , Bovinos , Artrogriposis/patología , Artrogriposis/veterinaria , Enfermedades de los Bovinos/congénito , Uruguay , Atrofia Muscular/veterinariaRESUMEN
BACKGROUND: Congenital arthrogryposis (CA) consists of congenital joint contractures that affect at least two joints in different parts of the body. Approximately, 80% of CA cases are neurogenic, with changes to the formation, structure or functioning of the central and/or peripheral nervous systems. Most abnormalities are triggered either by motoneurons decreased activation in the corticospinal tract or by direct motoneurons injury. There had been few reports in the literature correlating congenital infection in humans with arthrogryposis until 2015. CA has recently been described associated with congenital Zika syndrome (CZS). METHODS: The objective of this study was to investigate and describe accurately the arthrogrypotic alterations in infants diagnosed with CZS and thus, suggest a possible pattern of orthopedic impairment. A total of 198 medical records of infants with CZS were evaluated. According to inclusion and exclusion criteria, 17 infants were included in the present study. Arthrogrypotic joints were orthopedically evaluated in four segments: right, left, upper, and lower limbs. All the four segments were assessed independently. RESULTS: Flexed wrists were the most frequently observed manifestation, associated with ulnar deviation (35.29%). Deformities were also commonly found in the third and fourth fingers (64.70%). Hip dislocation was found in 58.82% of the patients and talipes equinovarus and equinovalgus ankles were found in 29.41 and 23.52%. CONCLUSION: There was a particular pattern of joint impairment related to CZS and arthogrypotic alterations of infants evaluated in this study.
Asunto(s)
Artrogriposis/complicaciones , Artrogriposis/fisiopatología , Infección por el Virus Zika/complicaciones , Artrogriposis/virología , Brasil/epidemiología , Femenino , Enfermedades Fetales , Humanos , Lactante , Recién Nacido , Masculino , Embarazo , Complicaciones Infecciosas del Embarazo , Virus Zika/patogenicidad , Infección por el Virus Zika/fisiopatología , Infección por el Virus Zika/virologíaRESUMEN
The Na+/K+- ATPase acts as an ion pump maintaining the essential plasma membrane potential in all mammalian cell types, and is essential for many cellular functions. There are four α isoforms (α1, α2, α3 and α4) with distinct expression patterns, kinetic properties and substrate affinity. The α2-isoform is encoded by ATP1A2 and evidence supports its utmost importance in Cl- homeostasis in neurons, and in the function of respiratory neurons at birth. Monallelic pathogenic variants in ATP1A2 are associated with familial hemiplegic migraine type 2 (FHM2) and on rare occasions with alternating hemiplegia of childhood 1 (AHC1). To date, no instances of biallelic loss of function variants have been reported in humans. However, Atp1a2 homozygous loss of function knockout mice (α2-/- mice) show severe motor deficits, with lack of spontaneous movements, and are perinatally lethal due to absent respiratory activity. In this report we describe three newborns from two unrelated families, who died neonatally, presenting in utero with an unusual form of fetal hydrops, seizures and polyhydramnios. At birth they had multiple joint contractures (e.g. arthrogryposis), microcephaly, malformations of cortical development, dysmorphic features and severe respiratory insufficiency. Biallelic loss of function variants in ATP1A2, predicted to be pathogenic were found on whole exome sequencing. We propose that this is a distinctive new syndrome caused by complete absence of Na+/K+- ATPase α2-isoform expression.