Observed Frequency and Characteristics of Hearing Loss in Osteogenesis Imperfecta

ABSTRACT Background: Osteogenesis imperfecta (OI) is a rare group of genetic disorders affecting connective tissue, with consequent bone fragility, frequent fractures and skeletal deformity. Depending on the type, patients can have blue sclera, dentinogenesis imperfecta, and hearing loss. Aim: To determine the frequency, type and audiometric characteristics of hearing loss in a group of patients with OI. Material and Methods: A prospective cohort study was completed. A clinical and diagnostic hearing evaluation with tympanometry, acoustic stapedial reflex, pure-tone and speech audiometry were performed. Results: Thirty patients completed the study; mean age of 22 years (range 6-63 years). Sixty seven percent had a type I OI. Overall, nine (30%) patients had hearing loss (15/60 ears). Of these, six had bilateral hearing loss. Of the 15 affected ears, six showed conductive hearing loss, five sensorineural hearing loss, and four mixed hearing loss. Patients with hearing loss were older than patients with normal hearing. Only one pediatric patient developed hearing loss. Of the ears without hearing loss, 13% did not have an acoustic stapedial reflex. Conclusions: In this group of patients with OI, 30% had hearing loss and among those ears with normal hearing, 13% did not have an acoustic stapedial reflex. Patients with OI should be monitored for hearing loss.

Antecedentes: La osteogénesis imperfecta (OI) es un grupo raro de trastornos genéticos que afectan al tejido conectivo, con la consiguiente fragilidad ósea, fracturas frecuentes y deformidad esquelética. Según el tipo, los pacientes pueden presentar escleras azules, dentinogénesis imperfecta e hipoacusia. Objetivos: Determinar la frecuencia, tipo y características audiométricas de la hipoacusia en un grupo de pacientes con OI. Material y Métodos: Se completó un estudio de cohorte prospectivo. Se realizó una evaluación clínica, y de la audición con timpanometría, reflejo estapedial, audiometría tonal y logoaudiometría. Resultados: Treinta pacientes completaron el estudio; edad media de 22 años (rango 6-63 años). El 67% tenía una OI tipo I. Nueve pacientes (30%) tuvieron hipoacusia (15/60 oídos). De estos, seis tenían hipoacusia bilateral. De los 15 oídos afectados, seis tenían hipoacusia de conducción, cinco hipoacusia neurosensorial y cuatro hipoacusia mixta. Los pacientes con hipoacusia eran mayores que los pacientes con audición conservada. Sólo un paciente pediátrico desarrolló hipoacusia. De los oídos sin hipoacusia, el 13% tenía un reflejo estapedial ausente. Conclusiones: En este grupo de pacientes con OI, el 30% tenía hipoacusia. Además, el 13% de los oídos con audición normal no tenía reflejo acústico estapedial. Los pacientes con OI deben ser monitoreados para detectar hipoacusia.

Bladder and bowel symptoms experienced by children with osteogenesis imperfecta / Sintomas urinários e intestinais apresentados por crianças com osteogênese imperfeita

Abstract Objective: To estimate the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms experienced by children with osteogenesis imperfecta and to describe the socio-demographic and clinical profile of these children. Method: A descriptive study was conducted with a convenience sample of parent-child pairs of toilet-trained children aged from 3 to 18 years. Pairs were interviewed using three tools: (1) Socio-Demographic and Clinical Questionnaire; (2) Dysfunctional Voiding Scoring System; (3) Rome III Criteria along with the Bristol Stool Scale. Data were stratified by socio-demographic and clinical variables and analyzed using descriptive statistics. Results: Thirty-one parent-child pairs participated in the study; 38.7% (n = 12) children reported bowel symptoms, 19.4% (n = 6) reported a combination of bladder issues (such as holding maneuvers and urgency) and bowel symptoms (such as hard or painful bowel movements and large diameter stools). There were no reports of isolated bladder issues. Among the child participants, 16 (51.7%) identified as female and 20 (64.5%) were 5-14 years old. The most prevalent type of osteogenesis imperfecta was type III (n = 12; 38.7%) and eight (25.8%) children reported using a wheelchair. Conclusion: This is the first study to examine the prevalence and presentation of bladder, bowel, and combined bladder and bowel symptoms in children with osteogenesis imperfecta, offering a preliminary socio-demographic and clinical profile of these children. This research is an important step toward effective screening, detection, and access to care and treatment, especially for clinicians working with this group of very fragile patients.

Resumo Objetivo: Estimar a prevalência e a apresentação de sintomas urinários, intestinais e urinários e intestinais combinados sofridos por crianças com osteogênese imperfeita e descrever o perfil sociodemográfico e clínico dessas crianças. Método: Foi realizado um estudo descritivo com uma amostra de conveniência de pares de pais-filhos de crianças treinadas para usar o banheiro com idades entre três e 18 anos. Os pares foram entrevistados utilizando três instrumentos: 1) o Questionário Sociodemográfico e Clínico; 2) o questionário Dysfunctional Voiding Scoring System; 3) os Critérios de Roma III juntamente com a Escala de Bristol para Consistência de Fezes. Os dados foram estratificados por variáveis sociodemográficas e clínicas e analisados com estatísticas descritivas. Resultados: Participaram do estudo 31 pares de pais-filhos, 38,7% (n = 12) crianças relataram sintomas intestinais, 19,4% (n = 6) relataram uma combinação de problemas urinários (como segurar e urgência miccional) e sintomas intestinais (como fezes duras ou evacuações dolorosas e fezes de grande dimensão). Não houve relatos de problemas urinários isolados. Entre as crianças, 16 (51,7%) eram meninas e 20 (64,5%) tinham entre 5 e 14 anos. O tipo mais prevalente de osteogênese imperfeita foi o III (n = 12; 38,7%) e 8 (25,8%) crianças relataram usar cadeira de rodas. Conclusão: Este é o primeiro estudo a examinar a prevalência e a apresentação de sintomas urinários, intestinais e urinários e intestinais combinados em crianças com osteogênese imperfeita e que mostra um perfil sociodemográfico e clínico preliminar dessas crianças. Nossa pesquisa é um passo importante com relação ao efetivo rastreamento, detecção e acesso ao cuidado e tratamento, principalmente para os profissionais de saúde que trabalham com esse grupo de pacientes tão frágeis.

Osteogénesis imperfecta: hallazgos clínicos y epidemiológicos en una serie de pacientes pediátricos / Osteogenesis imperfect: clinical and epidemiological findings in a series of pediatric patients

Resumen Introducción: La osteogénesis imperfecta (OI) es el trastorno óseo hereditario más común, con una incidencia de 1 en 10,000 a 25,000 nacimientos. Este trastorno está causado principalmente por mutaciones de los genes que codifican las cadenas del colágeno tipo I. En la mayoría de los casos, se presenta un patrón de herencia autosómico dominante. La OI se caracteriza principalmente por un aumento en la fragilidad ósea que da lugar a fracturas frecuentes que producen dolor, deformidad y discapacidad asociada con otras alteraciones. El objetivo del estudio fue exponer las características clínicas y epidemiológicas de una serie de pacientes pediátricos con diagnóstico de OI evaluados en la Universidad de Los Andes. Métodos: El presente trabajo consiste en el análisis de una serie de 37 casos pediátricos con diagnóstico de OI, de acuerdo a la clasificación clínica y radiológica de Sillence, evaluados en la consulta de la Unidad de Genética Médica de la Universidad de Los Andes, entre enero de 2006 y diciembre de 2018. Resultados: La OI tipo I fue la de presentación más frecuente, con 31 pacientes (83.78%). El fémur fue el hueso más afectado de manera conjunta. Las escleras azules fueron el hallazgo adicional más frecuente, en 32 pacientes (86.49%). Conclusiones: La OI representa el principal motivo de consulta por alteraciones en el sistema esquelético en la Unidad de Genética Médica de la Universidad de Los Andes. Ante la amplia forma clínica de presentación, la evaluación debe ser individual e interdisciplinaria. A través de un estudio más profundo se podrá brindar el oportuno asesoramiento genético familiar.

Abstract Background: Osteogenesis imperfecta (OI) is the most common hereditary bone disorder with an incidence of one in 10,000-25,000 births. It is caused mainly by mutations in the genes that code for Type I collagen chains. In most cases, it shows an autosomal dominant inheritance pattern. OI is characterized by an increase in bone fragility that leads to frequent fractures, which cause pain, deformity and disability associated with other alterations. The objective of this study was to present the clinical and epidemiological characteristics of a series of pediatric patients diagnosed with OI evaluated at the University of Los Andes. Methods: A series of 37 pediatric cases with diagnosis of OI according to the clinical and radiological classification of sillence is analyzed, which were evaluated in the medical genetics unit of the University of Los Andes consultation between January 2006 and December 2018. Results: Type I was the most frequent OI type, with 31 patients (83.78%). Additionally, the femur was the most affected bone. Blue scleras were the most frequent additional finding in 32 patients (86.49%). Conclusions: OI represents the main reason for consultation of alterations in the skeletal system in the medical genetics unit of the University of Los Andes. Given the broad clinical presentation, the evaluation must be individual and interdisciplinary. Further study will provide timely family genetic counseling.

El tratamiento con bifosfonatos mejora la calidad de vida en pacientes con diagnóstico de osteogénesis imperfecta / Treatment with bisphosphonates improves the quality of life in patients with diagnosis of osteogenesis imperfecta

Resumen: Introducción: La osteogénesis imperfecta (OI) es un grupo heterogéneo de enfermedades hereditarias, las cuales cursan con la presencia de fragilidad ósea, fracturas frecuentes, deformidades óseas y talla baja. El tratamiento con bifosfonatos en los pacientes con diagnóstico de OI ha demostrado un decremento en la frecuencia de fracturas, así como una mejoría en la densidad ósea vertebral. Existe poca evidencia sobre la calidad de vida en pacientes con OI posterior al tratamiento con bifosfonatos. ¿Los bifosfonatos mejoran la calidad de vida de los pacientes con OI? Material y métodos: Se trata de un ensayo prospectivo, de intervención deliberada, ensayo clínico autocontrolado. Nueve pacientes que se encontraban entre las edades de dos y 13 años con diagnóstico de OI fueron tratados con ácido zolendrónico. Se realizó una medición de la calidad de vida en los pacientes previa y posteriormente. Para la medición de la calidad de vida de los pacientes utilizamos la encuesta de calidad de vida PedsQL 4.0 que fue aplicada tanto a los niños como a los padres. Resultados: En la encuesta de calidad de vida efectuada a los padres se observó un incremento en las cuatro dimensiones evaluadas. En la encuesta realizada a los niños se apreció un aumento en dos dimensiones. El número de fracturas disminuyó posterior al tratamiento. Conclusiones: Existe una correlación entre la disminución del número de fracturas y la percepción que tienen tanto los padres como los niños en la calidad de vida posterior al tratamiento con bifosfonatos.

Abstract: Introduction: Osteogenesis imperfeta (OI) is defined as a heterogeneous group of hereditary diseases, which present with the presence of bone fragility, frequent fractures, bone deformities and short stature. Treatment with biphosfonates in patients with diagnosis of OI has shown a decrease in the frecuency of fractures, as well as an improvement in vertebral bone density. There is little evidence on quality of life in patients diagnosed with OI treated with bisphosphonates, Therefore this study evaluated the quality of life of patients diagnosed with OI after treatment with bisphosphonates. Material and methods: It is a prospective, deliberate intervention, self-controlled clinical trial. Nine patients with ages between two and thirteen ages and diagnosed with OI were treated with Zolendronic, a quality of life measurement was performed in the patients before and after the application. For measuring the quality of life in the patients we used the PedsQL 4.0 quality of life survey that was applied to both children and parents. Results: In the quality of life survey performed on the parents, an increase was observed in the four dimensions evaluated. In the survey made on the children two dimensions showed a significant increase. The number of fractures decreased after the treatment. Conclusions: There is a correlation between the decrease in the number of fractures and the perception that both parents and children have in the quality of life after treatment with bisphosphonates.

Vertebroplastia percutánea / Percutaneous vertebroplasty

La vertebroplastia percutánea es una técnica aplicable a pacientes con fractura vertebral con síndrome doloroso importante y que no mejora con un manejo ortopédico y clínico integral. Se incluye una apretada historia del procedimiento, y se revisan sus indicaciones y contraindicaciones, así como las publicaciones que analizan sus ventajas y riesgos (AU)

Percutaneous vertebroplasty is a technique for the treatment of patients with vertebral fracture who have persistent pain even after orthopedic and clinical therapeutic measures. A brief historical note of the procedure is presented, and its indications and contraindications are outlined, along with a literature overview of its advantages and risks (AU)

Embarazada con Osteogénesis Imperfecta tipo IV / Osteogenesis Imperfect Type IV in a Preganant

La osteogénesis imperfecta o huesos de cristal es una enfermedad genética de transmisión autosómica dominante; en específico la tipo IV. Las pacientes nacen con fracturas y curvaturas de los huesos largos de los miembros inferiores, muestran dentinogénesis imperfecta, escleróticas grises o blancas, no hay sordera y suele presentar cifoescoliosis y laxitud ligamentosa. Se reporta el caso de una paciente embarazada 24 años de edad, blanca. Los síntomas principalmente se observan en el sistema musculoesquelético, visión, neurológico. Se le realizó una cesárea primitiva electiva, bebé sano, buena puntuación de Apgar. No hubo complicaciones maternas ni neonatales, transoperatorio y puerperio quirúrgico: inmediato, mediato y tardío sin complicaciones. El propósito de escribir el artículo fue reportar el caso de una embarazada con enfermedad de amplia heterogeneidad genética que determina también variabilidad fenotípica, que permite encarar una certera atención prenatal a partir de mostrar las manifestaciones clínicas de la osteogénesis imperfecta tipo IV observadas en ésta embarazada(AU)

Osteogenesis imperfecta or crystal bones is a genetic disease of autosomal dominant transmission, particularly type IV. Patients are born with fractures and curvatures of the long bones of the lower limbs, they show dentinogenesis imperfecta, gray or white sclerotic, there is no deafness and usually kyphoscoliosis and ligamentous laxity are present. We report the case of a white 24-year-old pregnant patient. Symptoms are mainly observed in the vision and in musculoskeletal and neurological system. An elective caesarean section was performed, which resulted in a healthy baby with a good Apgar score. There were no maternal or neonatal complications. The transoperative, immediate, middle and late surgical puerperium did not have complications. The purpose of this article is to report a case of a pregnant woman with a genetic wide heterogeneity illness that determines the phenotype variability allowing facing a prenatal good care from showing the clinical manifestations of OI type IV in this patient(AU)

Manejo estomatológico del paciente con osteogénesis imperfecta: presentación de un caso / Dentistry handling patient with osteogenesis imperfecta. Report of a case

La osteogénesis imperfecta es un desorden hereditario que comprende unamplio espectro de presentaciones fenotípicas cuya principal característicaes la fragilidad ósea. La dentinogénesis imperfecta es un trastorno de origen hereditario en el desarrollo de la dentina, cuya incidencia se estimaen alrededor de 1:8,000. Objetivo: Implementar un abordaje estomatoló-gico con enfoque en nuevas tendencias rehabilitadoras y preventivas entratamientos para pacientes con dentinogénesis imperfecta. Presentación del caso: Paciente masculino de tres años de edad que acude al Servicio de Estomatología del Instituto Nacional de Pediatría, diagnosticado con osteogénesis imperfecta tipo IV. Se observan las coronas con coloración ámbar generalizada, atrición y pérdida de la estructura dentaria por caries en diversos órganos dentarios. Se realiza la rehabilitación bucal bajo anestesia general, restaurando los dientes afectados con coronas de acero cromoy colocando selladores de fosetas y fi suras en molares con esmalte íntegro así como fluoruro en barniz al 5 por ciento. Conclusiones: El tratamientode la dentinogénesis imperfecta depende de la severidad que presente elpaciente. Es esencial dar un seguimiento estrecho, resolviendo de manera oportuna las necesidades que vayan surgiendo con un tratamiento no tan radical como se recomendaba anteriormente.

Osteogenesis imperfecta is a hereditary disorder that encompasses abroad spectrum of phenotypic presentations whose main characteristicis bone fragility. Dentinogenesis imperfecta is a disorder in developinghereditary dentin whose incidence is estimated to about 1:8,000.Objective: Implement a focused approach dentistry new trends inrehabilitative and preventive treatments for patients with dentinogenesisimperfecta. Case report: Male patient age three who comes toDentistry Service of the National Institute of Pediatrics, diagnosed withosteogenesis imperfecta type IV. Crowns with generalized amber colorobserved oral rehabilitation is performed under general anesthesia,restoring the aff ected teeth with stainless steel crown and placingsealant in the molar pit and fi ssure enamel integral and placementof fl uoride varnish to 5%. Conclusions: Dentinogenesis imperfectatreatment depends on the severity with which the patient presents. Itis very important to closely monitor, timely meeting the needs as theyarise, conducting a treatment not as radical as it was in the beginning.

Artroplastía total de cadera en osteogénesis imperfecta. A propósito de un caso / Case report: total hip replacement in osteogenesis imperfecta

Resumen: En este trabajo se ha estudiado, a propósito de un caso, la cirugía de artroplastía total de cadera en un paciente con osteogénesis imperfecta. Las características propias de esta enfermedad, como son el elevado riesgo de fractura y la presencia de deformidades, convierten esta cirugía en un reto para el cirujano ortopédico. En este manuscrito se revisa, de forma inédita para esta indicación, la planificación preoperatoria y la elección del tipo de implantes, con especial interés en las medidas para la prevención de complicaciones.

Abstract: We study, apropos of a case, a total hip arthroplasty in a patient with osteogenesis imperfecta. The characteristics of this disease, such as high risk of fracture and the presence of deformities, make this surgery a challenge for the orthopedic surgeon. In this manuscript, we review for the first time in this indication the preoperative planning and the selection of implants, with special emphasis on measures for the prevention of complications.

Características clínicas e padrão de fraturas no momento do diagnóstico de osteogênese imperfeita em crianças / Clinical features and pattern of fractures at the time of diagnosis of osteogenesis imperfecta in children

RESUMO Objetivo: Caracterizar o padrão de fraturas e a história clínica no momento do diagnóstico de osteogênese imperfeita. Métodos: Neste estudo retrospectivo, foram incluídos todos os pacientes com osteogênese imperfeita de ambos os sexos, com idades entre 0 e 18 anos, que realizaram tratamento entre 2002 e 2014. Os prontuários médicos foram revisados para coleta de dados clínicos, incluindo presença de escleras azuladas, dentinogênese imperfeita, história familiar positiva para a doença e locais das fraturas, além de achados radiográficos no momento do diagnóstico. Resultados: Foram incluídos no estudo 76 pacientes (42 do sexo feminino), com idade, no momento do diagnóstico, entre 0 e 114 meses [mediana (p25-p75) de idade de 38 (6-96) meses]. Escleras azuladas estavam presentes em 93,4% dos pacientes, dentinogênese imperfeita foi observada em 27,6% e ossos wormianos em 29,4%. O número de fraturas ao diagnóstico variou entre 0 e 17, com uma mediana de 3 (2-8) fraturas. Em 40 (57%) pacientes, as fraturas eram de membros superiores e inferiores no momento do diagnóstico e, em 9 pacientes também havia fratura vertebral. O diagnóstico foi realizado ao nascimento em 85,7% dos pacientes com o tipo 3 e em 39,3% daqueles com tipo 4/5 da doença. Conclusões: Osteogênese imperfeita é uma doença genética com características clínicas distintas, tais como fragilidade óssea, fraturas recorrentes, escleras azuladas e dentinogênese imperfeita. É importante saber identificar essas características, facilitando o diagnóstico, otimizando o tratamento e diferenciando de outras doenças que também podem causar fraturas.

ABSTRACT Objective: To characterize the fracture pattern and the clinical history at the time of diagnosis of osteogenesis imperfecta. Methods: In this retrospective study, all patients with osteogenesis imperfecta, of both genders, aged 0-18 years, who were treated between 2002 and 2014 were included. Medical records were assessed to collect clinical data, including the presence of blue sclerae, dentinogenesis imperfecta, positive familial history of osteogenesis imperfecta, and the site of the fractures. In addition, radiographic findings at the time of the diagnosis were reviewed. Results: Seventy-six patients (42 females) were included in the study. Individuals' age ranged from 0 to 114 months, with a median (interquartile range) age of 38 (6-96) months. Blue sclerae were present in 93.4% of patients, dentinogenesis imperfecta was observed in 27.6% of patients, and wormian bones in 29.4% of them. The number of fractures at diagnosis ranged from 0 to 17, with a median of 3 (2-8) fractures. Forty (57%) patients had fractures of the upper and lower extremities, and 9 patients also had spinal fractures. The diagnosis was performed at birth in 85.7% of patients with type 3, and 39.3% of those with type 4/5 of the disorder. Conclusions: Osteogenesis imperfecta is a genetic disorder with distinctive clinical features such as bone fragility, recurrent fractures, blue sclerae, and dentinogenesis imperfecta. It is important to know how to identify these characteristics in order to facilitate the diagnosis, optimize the treatment, and differentiate osteogenesis imperfecta from other disorders that also can lead to fractures.

Fracturas vertebrales en niños con osteogénesis imperfecta tipo I / Vertebral fractures in children with Type I Osteogenesis imperfecta

La Osteogénesis imperfecta (OI) es una enfermedad hereditaria del tejido conectivo, que se caracteriza principalmente por fragilidad ósea, deformidad y alteración del crecimiento. La OI tipo I (OI tipo I) es la más frecuente, leve y clínicamente homogénea. Su mayor complicación es la presencia de fracturas vertebrales, asociadas a morbilidad esquelética y cardiopulmonar. Objetivo: Caracterizar clinicamente una cohorte de niños con OI tipo I. Pacientes y Método: Se examinó una cohorte histórica de pacientes menores de 20 años mediante la revisión de fichas clínicas, rescatando las características demográficas, clínicas, bioquímicas y radiológicas. Resultados: Se incluyeron 67 pacientes, 55% varones, 69% de la Región Metropolitana. La edad media de diagnóstico fue de 2,9 años, el 70% de los pacientes presentó fracturas vertebrales de predominio torácico, y el 50% lo hizo antes de los 5 años. Un 15% presentó fracturas al momento del diagnóstico, siendo en ellos el diagnóstico de OI tipo I cerca de los 5 años. Los parámetros metabólicos óseos estuvieron en rangos adecuados durante el seguimiento, sin cambios significativos al diagnóstico de las fracturas vertebrales, excepto una disminución de la ingesta recomendada de calcio. Conclusiones: En este estudio, la OI tipo I presenta un diagnóstico precoz, principalmente en preescolares, y se asocia a alta frecuencia de fracturas vertebrales. La disminución en la ingesta de calcio demostrada al momento de la primera fractura requiere especial atención en estos pacientes.

Osteogenesis imperfecta (OI) is an hereditary disease affecting conective tissue, mainly associated to growth retardation and pathological fractures. OI type I (OI type I), is the mildest, most often, and homogeneous in its fenotype. Vertebral fractures are the most significant complications, associated to skeletical and cardiopulmonary morbidity. Objectives: To characterize clinically a cohort of children with OI type I. Patients and Methods: A cohort of OI type I children younger than 20 year old was evaluated. Demographic, clinical, biochemical and radiological data were registered. Results: Sixty seven patients were included, 55% male, 69% resident in the Metropolitan Region. The mean age of diagnose was 2.9 years, 70% presented vertebral fractures on follow-up, mostly thoracic, and 50% before the age of 5 years. Fifty percentage presented vertebral fractures at diagnose, which was about the age of 5 years. Bone metabolic parameters were in the normal range, without significant change at the moment of vertebral fractures. Calcium intake was found to be below American Academy of Pediatrics recommendations at the time of the first fracture. Conclusions: In this study OI type I has an early diagnose, and vertebral fractures show a high incidence, mostly in toddlers. Calcium intake was found to be below reccomended values, and should be closely supervised in these patients.

Occipito-thoracic Fusion in Incidental Dystropic Os Odontoideum in a patient suspected with Osteogenesis Imperfecta: A Case Report.

Introduction: Os odontoideum is a rare lesion of the axis. Described as an ossicle, consisting of smooth and separate caudal portions of the odontoid process wherein its etiology has remained controversial. Os odontoideum complicating a possible osteogenesis imperfecta has not been reported before in the literature. Methods: We report the case of a 14-yr male patient presented with progressive weakness of both lower and upper extremities after a head trauma 10 months prior to admission, which presented as transient quadreparesis. Results: Magnetic resonance imaging of cervical spine showing cervicomedullary junction compression. Patient underwent surgical intervention and 3 months post operation, patient was reported to have steady gait and muscle grading of 5/5 on all extremities. Conclusion: Surgical fi xation and fusion in patients with instability may prevent catastrophic neurologic insult after minor trauma in the future.

Caso atípico de osteoporosis idiopática juvenil / Atypical case of juvenile idiopathic osteoporosis

La osteoporosis idiopática juvenil es una enfermedad que aparece en niños y adolescentes, autolimitada, caracterizada por osteoporosis axial y de extremidades, en ocasiones asociada a colapso vertebral, lo que resulta finalmente en cifosis torácica. No se tiene conocimiento, hasta la fecha, de su asociación a alteraciones de la dentición. Se presenta el caso de un adolescente masculino, con historia de retraso en el cambio a la dentición permanente y osteopenia, valorado por varias especialidades médicas como: Medicina Interna, Estomatología, Ortopedia, Endocrinología y Nefrología. Se plantea el diagnóstico de osteoporosis idiopática juvenil, y se descartan, a partir del cuadro sintomatológico y los numerosos complementarios realizados, varias enfermedades hereditarias y adquiridas, entre ellas, la osteogénesis imperfecta tardía y el hiperparatiroidismo. Se destacan en este caso la presencia de alteraciones en la dentición y la poca afectación vertebral

Juvenile idiopathic osteoporosis is a disease seen in children and adolescents, it is self-limited, characterized by axial and limb osteoporosis, occasionally related to vertebral collapse, which finally resulted in thoracic kyphosis. To date, the association between this disease and dental impairments is not known. Here is the case of a male adolescent, with history of delayed change to permanent dentition and osteopenia; he was evaluated by several medical specialists as internal medicine, odontology, orthopedics, endocrinology and nephrology. He was diagnosed as juvenile idiopathic osteoporosis case, and on the basis of the symptom picture and the numerous supplementary tests, it was possible to rule out several hereditary and acquired illnesses such as late imperfect osteogenesis and hyperparathyroidism. This case stressed the presence of dentition impairments and little vertebral effect

Living Donor Liver Transplantation for an Infant with Osteogenesis Imperfecta and Intrahepatic Cholestasis: Report of a Case

Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility and connective tissue manifestations. We report a successful liver transplantation (LT) in an 8-month-old boy with OI and cholestatic biliary cirrhosis. After 4 cycles of intravenous pamidronate, LT was performed under intravenous anesthesia using a left lateral section from his mother without mechanical retractors. The operation time was 420 min and estimated blood loss was 520 mL requiring one unit of RBC transfusion. He was discharged without surgical complications. Therefore, LT should be considered for patients with end stage liver disease and OI under organic multidisciplinary cooperation.

Associação entre artrite idiopática juvenil e osteogenesis imperfecta: relato de caso / Association between Juvenile idiopathic arthritis and osteogenesis imperfecta: case report

Os autores relatam o caso de uma paciente de 53 anos que apresenta uma rara associação entre artrite idiopática juvenil (AIJ) e osteogenesis imperfecta (OI), com acometimento poliarticular, incluindo a articulação temporomandibular. Apresentam uma revisão da literatura e uma discussão dos aspectos radiológicos do acometimento da referida articulação. Não foram encontrados relatos de casos com semelhante associação de doenças na literatura especializada.

The authors report a rare association case of juvenile idiopathic arthritis (JIA) and osteogenesis imperfecta (OI) in a 53 years-old female patient, present a literature review and discuss the radiological aspects of the temporo-mandibular joint involvement. To our knowledge, this is the first case report of JIA an OI association.

Conduta anestésica em criança com osteogênese imperfeita e hemorragia epidural / Anesthesia management in a child with osteogenesis imperfecta and epidural / Hemorrhage conducta anestésica en niño con osteogénesis imperfecta y hemorragia epidural

Osteogênese imperfeita (OI) é o resultado de uma mutação genética que causa a formação defeituosa ou insuficiente de colágeno. OI pode causar várias complicações anestésicas por causa do manejo difícil das vias aéreas, da presença de deformidade da coluna vertebral, de doenças respiratórias, anomalias cardíacas, distúrbio da função plaquetária, risco de hipertermia, invaginação bacilar, deformidades ósseas e distúrbios metabólicos. A abordagem anestésica de pacientes com OI deve ser feita com cautela, por causa do risco de certas complicações respiratórias. Esses riscos são causados por deformidade do tórax, fraturas ósseas durante o movimento ou mudança de posição, fraturas mandibulares e cervicais relacionadas à intubação, intubação difícil e hipertermia maligna. As técnicas anestésicas com o uso de anestesia venosa total (AVT) e máscara laríngea são adequadas para o manejo de paciente pediátrico com OI. No entanto, essas técnicas ainda não foram mencionadas como úteis em relatos de casos neurocirúrgicos. Neste estudo, apresentamos o uso de AVT e máscara laríngea ProSeal (MLP) em uma criança com OI e hemorragia epidural. Concluímos que a MLP e a AVT podem ser usadas com segurança no manejo anestésico de pacientes com OI e problemas anestésicos graves.

Osteogenesis Imperfecta (OI) results from gene mutation that causes defective or insuffi cient collagen formation. It may cause various anesthetic complications due to the diffi culty in airway management, existence of spinal deformity, respiratory disorders, cardiac anomalies, thrombocyte function disorder, risk of hyperthermia, bacillary invagination, bone deformities and metabolic disorders. The anesthesia management of OI patients should be exercised with caution given certain risks of respiratory disorders. These risks are due to thorax deformity, bone fractures during moving or changing position, mandibular and cervical fractures related with intubation, diffi cult intubation and malignant hyperthermia. The anesthetic technique using Total Intravenous Anesthesia (TIVA) and laryngeal mask airway is suitable for pediatric patient care with OI. However, these techniques have not yet been reported as useful in neurosurgery case reports. In this study, we present the use of TIVA and ProSeal Laringeal Mask in a child with OI and epidural hemorrhage. We came to the conclusion that LMA and TIVA can safely be used in the anesthetic management of OI patients with severe anesthetic problems.

La osteogénesis imperfecta (OI) es el resultado de una mutación genética que causa la formación defectuosa o insufi ciente de colágeno. La OI puede causar varias complicaciones anestésicas a causa del manejo difícil de las vías aéreas, de la presencia de deformidad de la columna vertebral, de enfermedades respiratorias, anomalías cardíacas, trastorno de la función plaquetaria, riesgo de hipertermia, invaginación bacilar, deformidades óseas y trastornos metabólicos. El abordaje anestésico de pacientes con OI debe ser hecho con cautela, ya que existe un riesgo de ciertas complicaciones respiratorias. Esos riesgos son causados por deformidad del tórax, fracturas óseas durante el movimiento o el cambio de posición, fracturas mandibulares y cervicales relacionadas con la intubación, intubación difícil e hipertermia maligna. Las técnicas anestésicas con el uso de anestesia venosa total (AVT) y mascarilla laríngea, son adecuadas para el manejo de paciente pediátrico con OI. Sin embargo, esas técnicas todavía no han sido mencionadas como útiles en relatos de casos neuroquirúrgicos. En este estudio, presentamos el uso de AVT y mascarilla laríngea ProSeal (MLP) en un niño con OI y hemorragia epidural. Concluimos que la MLP y la AVT pueden ser usadas con seguridad en el manejo anestésico de pacientes con OI y problemas anestésicos graves.

Clinical manifestations and dental management of dentinogenesis imperfecta associated with osteogenesis imperfecta: case report

Dentinogenesis imperfecta [DI] associated with osteogenesis imperfecta [DI] is a genetic disorder that affects the connective tissues and results in dentine dysplasia. This case report dis [DI]; cusses the systemic and dental manifestations of DI and DI in a 4-year-old child, with moderate presentation of both disorders, who was treated at King Fahd Military Medical Complex in Dhah- ran. Dental treatment included the use of strip and stainless-steel crowns under local anesthesia, as; well as behavior modification techniques. Rigorous home care instructions, including reinforcement of the oral hygiene practice and avoidance of any episode that may lead to bone fracture, were disscussed with the parents. The case was reevaluated at 3-month follow-up visits, wherein the medical and dental histories were updated, the child's growth was monitored, periodic clinical and radio-graphic examinations were performed, and the oral hygiene was evaluated via the debris index score and caries risk assessment. Further treatment of the permanent dentition may be needed in the future

Implantes dentales en osteogénesis imperfecta. Niños con huesos de cristal: algo más que un caso clínico / Dental implants in osteogenesis imperfecta. Children with crystal bones: more than a clinical case

La osteogénesis imperfecta, también llamada enfermedad de los niños con huesos de cirstal, es una enfermedad genética. La misma se caracteriza porque los huesos se rompen tras un mínimo traumatismo e incluso sin causa. Su incidencia es alta. Puede no sercongénita. Se debe a la insuficiente y/o defectuosa formación del colágeno tipo I, que constituye el 85 a 90 por ciento del hueso. En tipos severos causa la muerte al nacer. Ha sido contraindicada la colocación de implantes. Este caso clínico de implantes fue exitoso en un Tipo moderado (IV) y se realizó a pedido del paciente, luego de explicársele la falta de antecedentesen la bibliografía y la contraindicación teórica.

Intravitreal bevacizumab for treatment of choroidal neovascularization associated with osteogenesis imperfecta.

A 12-year-old girl, diagnosed of osteogenesis imperfecta, presented with sudden visual loss in the left eye. Investigations revealed an active choroidal neovascular membrane. She underwent treatment with intravitreal Bevacizumab (1.25 mg/0.05 ml). Follow-up at 1 month revealed the development of lacquer crack running through the macula, underlying the fovea. The patient received two re-treatments at 1-month intervals, following which the choroidal neovascularization (CNV) regressed completely. However, further progression of lacquer cracks was noted. At the last follow-up, 6 months following the last injection, the fundus remained stable and vision was maintained at 20/200. Considering the natural history of the disease and the increased risk of rupture of the Bruch's membrane in such eyes, the possible complication of a lacquer crack developing must be borne in mind, before initiating treatment.

Anesthetic management for combined mitral valve replacement and aortic valve repair in a patient with osteogenesis imperfecta.

Osteogenesis imperfecta is a rare disorder of connective tissues and presents multiple challenges, including difficult airway, hyperthermia, coagulopathy and respiratory dysfunction, for anesthesiologists, especially during cardiac surgery. We present anesthetic management of a patient with osteogenesis impertecta during double valve surgery. Dexmedetomidine infusion minimized the risks of malignant hyperthermia. Glidescope and in-line stabilization facilitated endotracheal intubation and protected his oral structures and cervical spine. Transesophageal echocardiography (TEE) diagnosed a flail A3 segment and redundant left coronary cusp causing mitral and aortic regurgitation. The mitral valve was replaced and the aortic valve repaired. Coagulopathy was corrected according to comprehensive coagulation analysis. Glidescope, dexmedetomidine, coagulation analysis and TEE could facilitate anesthetic management in these patients.