Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 108
Filter
1.
Immunohematology ; 37(3): 122-125, 2021 Sep.
Article in English | MEDLINE | ID: mdl-34591375

ABSTRACT

We report the case of a newborn girl with jaundice due to increased indirect bilirubin with a positive direct antiglobulin test (DAT) and compensated hemolysis. The result of the newborn's DAT was discrepant with the negative result of the mother's indirect antiglobulin test. The multiparous mother had a previous history of fetal hydrops miscarriage, with no known cause, and no record of the cause was found at the hospital where she was treated. After referring samples from the mother and newborn to a reference laboratory, the rare alloanti-Sc2 was identified in the mother's plasma and in the newborn's eluate. HEA BeadChip genotyping of the newborn's DNA sample predicted the SC:1,2 phenotype.We report the case of a newborn girl with jaundice due to increased indirect bilirubin with a positive direct antiglobulin test (DAT) and compensated hemolysis. The result of the newborn's DAT was discrepant with the negative result of the mother's indirect antiglobulin test. The multiparous mother had a previous history of fetal hydrops miscarriage, with no known cause, and no record of the cause was found at the hospital where she was treated. After referring samples from the mother and newborn to a reference laboratory, the rare alloanti-Sc2 was identified in the mother's plasma and in the newborn's eluate. HEA BeadChip genotyping of the newborn's DNA sample predicted the SC:1,2 phenotype.


Subject(s)
Erythroblastosis, Fetal , Hemolysis , Female , Fetus , Humans , Infant, Newborn , Isoantibodies
2.
Pediatr Radiol ; 51(9): 1597-1607, 2021 08.
Article in English | MEDLINE | ID: mdl-33791841

ABSTRACT

BACKGROUND: The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), which resulted in the worldwide coronavirus disease 2019 (COVID-19) pandemic of 2020, has particularly affected Latin America. OBJECTIVE: The purpose of the study was to analyze the imaging findings of pulmonary COVID-19 in a large pediatric series. MATERIALS AND METHODS: Children with SARS-CoV-2 infection confirmed by either quantitative reverse transcription-polymerase chain reaction from nasopharyngeal swabs or presence of circulating immunoglobulin M (IgM) antibodies and who underwent chest radiograph or CT or both were included in this retrospective multicenter study. Three pediatric radiologists independently reviewed radiographs and CTs to identify the presence, localization, distribution and extension of pulmonary lesions. RESULTS: We included 140 children (71 female; median age 6.3 years, interquartile range 1.6-12.1 years) in the study. Peribronchial thickening (93%), ground-glass opacities (79%) and vascular engorgement (63%) were the most frequent findings on 131 radiographs. Ground-glass opacities (91%), vascular engorgement (84%) and peribronchial thickening (72%) were the most frequent findings on 32 CTs. Peribronchial thickening (100%), ground-glass opacities (83%) and pulmonary vascular engorgement (79%) were common radiograph findings in asymptomatic children (n=25). Ground-glass opacity and consolidation were significantly higher in children who needed intensive care admission or died (92% and 48%), in contrast with children with a favorable outcome (71% and 24%, respectively; P<0.05). CONCLUSION: Asymptomatic children and those with mild symptoms of COVID-19 showed mainly peribronchial thickening, ground-glass opacities and pulmonary vascular engorgement on radiographs. Ground-glass opacity and consolidation were more common in children who required intensive care admission or died.


Subject(s)
COVID-19/diagnosis , Lung/diagnostic imaging , SARS-CoV-2/isolation & purification , Tomography, X-Ray Computed/methods , Adult , COVID-19/epidemiology , COVID-19 Nucleic Acid Testing , Child , Child, Preschool , Female , Humans , Infant , Latin America , Male , Mexico/epidemiology , Retrospective Studies , SARS-CoV-2/genetics
3.
Rev. chil. enferm. respir ; 28(3): 212-221, set. 2012. ilus
Article in Spanish | LILACS | ID: lil-656315

ABSTRACT

Different causes leading to an hyperlucent hemithorax in radiographs are revised, complementing the study with computed tomography for further precision. Pathological characteristics and their images are analyzed.


Se revisan las diferentes causas que pueden determinar un torax hiperlúcido unilateral en estudio radiológico simple de torax, complementando el estudio con tomografía computarizada para una mejor precisión. Se analizan sus características patológicas y su representación en imágenes.


Subject(s)
Child , Thoracic Diseases/etiology , Thoracic Diseases , Radiography, Thoracic , Tomography, X-Ray Computed , Pediatrics
5.
An. pediatr. (2003, Ed. impr.) ; 76(1): 38-40, ene. 2012. tab
Article in Spanish | IBECS | ID: ibc-96332

ABSTRACT

La distrofia simpático-refleja es una patología infrecuente en la edad pediátrica, que no se relaciona con un trastorno orgánico subyacente y que requiere un tratamiento multidisciplinar debido al importante componente psicosomático que lo acompaña y al difícil control de los síntomas en este cuadro. Por otro lado, las mioclonías tienen un amplio espectro de diagnósticos diferenciales, siendo muy importante descartar enfermedades neurológicas y degenerativas subyacentes. Presentamos el caso de un varón adolescente con dolor neuropático en una localización atípica y con una presentación compleja al asociar mioclonías y distonías a lo largo de su evolución, que obliga a la revisión de ambos cuadros y a realizar un amplio diagnóstico diferencial (AU)


Complex regional pain syndrome (CRPS) is quite uncommon in paediatric patients.There is no identified organic aetiology. CRPS has a very significant psychosomatic component; therefore it is necessary to take a multidisciplinary approach to its treatment, which should include psychiatric assessment. CRPS is very difficult to diagnose, and can take months to control its symptoms. The association with myoclonus is rare, and since myoclonus is the clinical manifestation of a vast spectrum of different neurological disorders, some of which are degenerative, it is important to make a diagnosis as quickly as possible.We present the case of an adolescent male with an atypical presentation of CRPS. CRPS was located in the thorax, which is very unusual and was associated with myoclonus and dystonias.This made the diagnosis harder and widened the aetiological spectrum (AU)


Subject(s)
Humans , Male , Adolescent , Myoclonus/complications , Reflex Sympathetic Dystrophy/complications , Thoracic Injuries/complications , Chest Pain/etiology , Diagnosis, Differential , Complex Regional Pain Syndromes/diagnosis
6.
An Pediatr (Barc) ; 76(1): 38-40, 2012 Jan.
Article in Spanish | MEDLINE | ID: mdl-22015053

ABSTRACT

Complex regional pain syndrome (CRPS) is quite uncommon in paediatric patients. There is no identified organic aetiology. CRPS has a very significant psychosomatic component; therefore it is necessary to take a multidisciplinary approach to its treatment, which should include psychiatric assessment. CRPS is very difficult to diagnose, and can take months to control its symptoms. The association with myoclonus is rare, and since myoclonus is the clinical manifestation of a vast spectrum of different neurological disorders, some of which are degenerative, it is important to make a diagnosis as quickly as possible. We present the case of an adolescent male with an atypical presentation of CRPS. CRPS was located in the thorax, which is very unusual and was associated with myoclonus and dystonias. This made the diagnosis harder and widened the aetiological spectrum.


Subject(s)
Complex Regional Pain Syndromes/complications , Myoclonus/complications , Adolescent , Humans , Male
7.
Rev. chil. infectol ; 28(4): 369-373, ago. 2011. ilus
Article in Spanish | LILACS | ID: lil-603069

ABSTRACT

During the last years, spondilodiskitis due to Kingella kingae has been a new target of interest, since it is the second agent that causes non tuberculous espondilodiskitis in children, after Staphylococcus aureus. Its clinical presentation is very inespecific, sometimes with fever, abdominal or lumbar disconfort, nocturnal pain, altered walking and sedestation. Images, culture methods and PCR (polymerase chain reaction) can be helpful for diagnosis, although in an important percent of the cases, etiology cannot be determined. Although there are no established guidelines for treatment, before the suspicion, empiric antibiotic treatment should be started for good prognosis. We describe a case of a 3 year old boy, who had this disease and then a review about spondilodiskitis in childhood and microbiological aspects of Kingella kingae.


La espondilodiscitis por Kingella kingae ha sido blanco de mayor interés en los últimos años, dado que constituye el segundo agente etiológico, luego de Staphylococcus aureus en espondilodiscitis no tuberculosa en niños. Clínicamente presenta sintomatología inespecífica, a veces acompañada de fiebre y de molestias abdominales o lumbares, con dolor de predominio nocturno y con alteraciones en la marcha y en la sedestación. El diagnóstico se puede ayudar con imágenes y métodos de cultivo o RPC (reacción polimerasa en cadena), aunque en un gran porcentaje de los casos no se logra determinar la etiología. Sin embargo, pese a que no exista un protocolo establecido para el tratamiento, ante la sospecha se debe iniciar tratamiento empírico, con buen pronóstico. Describimos un caso de un paciente de tres años que cursó con esta patología y posteriormente se expone una revisión sobre espondilodiscitis en la infancia y los aspectos microbiológicos de K. kingae.


Subject(s)
Child, Preschool , Humans , Male , Discitis/microbiology , Kingella kingae/isolation & purification , Neisseriaceae Infections/microbiology , Magnetic Resonance Imaging , Tomography, X-Ray Computed
8.
Eur Psychiatry ; 26(7): 428-35, 2011 Oct.
Article in English | MEDLINE | ID: mdl-21306876

ABSTRACT

OBJECTIVES: To describe and compare the prevalence of mental disorders across primary care populations, and estimate their impact on quality of life. METHODS: Cross-sectional multilevel analysis of a systematic sample of 2539 attendees to eight primary care centres in different regions of Spain, assessed with the WHO Composite International Diagnostic Interview (CIDI 1.1), the Short Form Health Survey (SF-36) quality of life questionnaire and the SF-6D utility index. RESULTS: The 12-month prevalence of any mental disorder was 23% (95% confidence interval: 21-24%), 10% had mood, 9% anxiety, 5% organic, 4% somatoform, and 1% alcohol use disorders, with a significant between-centre variability (P<0.001). People with mental disorders had one standard deviation lower mental quality of life than the general population. We estimated that 1831 quality-adjusted life-years (QALYs) are lost annually per 100,000 patients due to mental disorders, without considering mortality. Mood disorders have the worst impact with an annual loss of 1124 QALYs per 100,000 patients, excluding mortality (95% confidence interval: 912-1351). CONCLUSIONS: Prevalence rates were similar to those obtained in international studies using the same diagnostic instrument and, given the significant between-centre variability found, it is recommended that mental health statistics be considered at small area level. Mental disorders, and especially mood disorders, are associated with very poor quality of life and higher scores on disability indexes than other common chronic conditions.


Subject(s)
Cost of Illness , Mental Disorders , Primary Health Care/statistics & numerical data , Sickness Impact Profile , Adult , Aged , Cross-Sectional Studies , Female , Humans , Interview, Psychological , Male , Mental Disorders/epidemiology , Mental Disorders/psychology , Mental Disorders/therapy , Middle Aged , Outcome and Process Assessment, Health Care , Prevalence , Quality of Life/psychology , Sex Factors , Socioeconomic Factors , Spain , Surveys and Questionnaires
9.
Acta pediatr. esp ; 68(8): 394-397, sept. 2010. tab, graf
Article in Spanish | IBECS | ID: ibc-83221

ABSTRACT

Introducción: Desde que en 1980 se publicó la Escala de Boyer, se han propuesto muchas herramientas clínicas para distinguir entre meningitis viral (MV) y meningitis bacteriana(MB). En los últimos años se ha validado el Bacterial Meningitis Score (BMS), instrumento que identifica a los niños con muy bajo riesgo de padecer MB. Nuestro objetivo es determinarla eficacia de la Escala de Boyer modificada con la proteína C reactiva (PCR), y validar en nuestra población pediátrica el BMS. Métodos: Se realizó un análisis retrospectivo de los niños de3 meses a 15 años de edad hospitalizados con el diagnóstico de meningitis entre 1994 y 2007. Se aplicó la Escala de Boyer, añadiéndose una puntuación correspondiente a la PCR. La sensibilidad y la especificidad se calcularon en los puntos de corte determinantes para la toma de decisiones (puntuaciones 3 y 5). En el caso del BMS, se valoró su sensibilidad y especificidad a partir del cumplimiento de los criterios de inclusión propuestos por sus autores. Resultados: En total se incluyeron 145 casos, de los cuales46 fueron MB y 99 MV. Se determinó la PCR en 73 de ellos. La modificación de la Escala de Boyer con la PCR aumentó la sensibilidad en el punto de corte 5 de un 83 a un 100%, permaneciendo la sensibilidad en el 100% en ambos casos. En el caso del BMS, el cumplimiento de al menos uno de los cinco criterios de riesgo identificó los casos de MB con una sensibilidad del 100% y una especificidad del 61,22%. Conclusión: Una puntuación de más de 5 en la Escala de Boyer modificada con la PCR identifica de forma precisa los casos de meningitis de etiología bacteriana en nuestro medio. El BMS es muy eficaz para determinar los casos de muy bajo riesgo de MB. La combinación de ambas herramientas resulta muy útil en el manejo de los pacientes con sospecha de meningitis (AU)


Introduction: Since Boyer's Score was published in 1980; many clinical tools have been proposed to distinguish between viral meningitis (VM) and bacterial meningitis (BM). Recently, it has been validated the Bacterial Meningitis Score (BMS), an instrument that identifies children at very low risk of BM. Our objective is to determine the accuracy of Boyer's Score modified with C-reactive protein (CRP) and to validate the BMS in our pediatric population. Methods: A retrospective study analysis of children (aged from 3 months to 15 years) hospitalized with a meningitis diagnosis in our pediatric center between 1994 and 2007. We calculated Boyer's Score and added a punctuation corresponding to CRP. The sensitivity and specificity were estimated in the scores cut off point that determine the taking of decisions (punctuations 3 and 5). We applied the BMS to all children using the inclusion criteria proposed by the authors, and calculated the sensitivity and specificity. Results: Among the 145 cases included, 46 had BM and 99 had VM. CRP was determined in 73 of them. The modification of Boyer's Score with CRP increased the sensibility of punctuation 5 from 83% to 100%; the specificity of this punctuation remained in 100% even if CRP was included or not. In the case of BMS, the fact of presenting at least one of the 5 criteria identified the cases of BM with a sensibility of 100% and a specificity of 61.22%. Conclusion: A punctuation of more than 5 in Boyer's Score modified with CRP identifies with high efficacy the cases of bacterial etiology. The BMS is very accurate for the identification of very low risk cases of BM. The combination of both scales is very useful in the management of patients with suspicion of meningitis ( AU)


Subject(s)
Humans , Male , Female , Child , Meningitis, Bacterial/diagnosis , Meningitis, Viral/diagnosis , C-Reactive Protein/analysis , Retrospective Studies , Anti-Bacterial Agents/therapeutic use , Early Diagnosis
10.
Rev. chil. dermatol ; 26(2): 122-130, 2010. tab, ilus
Article in Spanish | LILACS | ID: lil-569956

ABSTRACT

Las anomalías vasculares de las partes blandas superficiales son frecuentes en el niño y se han clasificado en hemangiomas y malformaciones vasculares, según sus manifestaciones clínicas y hallazgos histológicos. La mayoría corresponde a hemangiomas, se presenta en el recién nacido, desaparece espontáneamente con el tiempo y sólo algunos de ellos requerirán de evaluación médica. Es importante especificar el tipo de lesión vascular para definir el tratamiento, lo que en la mayor parte de los casos es posible con los hallazgos clínicos. Sin embargo, a veces es necesario recurrir a estudios de imágenes para precisar el diagnóstico y los métodos más utilizados son la Ultrasonografía (US) Doppler-color; Resonancia magnética (RM) y Angiografía. La US Doppler-color es un método sencillo, inocuo, no invasivo, que permite diferenciar las lesiones superficiales de aquellas profundas y además permite evaluar la vascularización de la lesión y, de esta manera, lograr una adecuada aproximación diagnóstica. También permite seleccionar aquellos casos que requerirán de métodos más sofisticados, como RM o angiografía. El objetivo de esta revisión es mostrar la utilidad de la US Doppler en el estudio de las anomalías vasculares de las partes blandas superficiales en el niño.


Vascular anomalies of superficial soft tissues are frequent in children and have been classified in hemangiomas and vascular malformations, depending on clinical and histological findings. Most correspond to hemangiomas, present in the newborn period, which disappear spontaneously with time and only some may require an imaging evaluation. It is important to specify the type of vascular anomaly in order to define management, which in most cases is possible with just clinical findings. Nevertheless, some cases may require imaging studies to define diagnosis, and the most utilized methods are Doppler ultrasonography (US), magnetic resonance Imaging (MRI) and angiography. Doppler US is a non invasive, harmless and simple method which allows to differentiate between deep and superficial lesions. It also permits to evaluate vascularization and in this manner; achieve an adequate diagnosis and select those cases that will require more sophisticated methods like MRI or angiography. The main objective of this review is to show the role of Doppler US in the study of superficial soft tissue vascular anomalies in children.


Subject(s)
Humans , Child , Vascular Malformations , Ultrasonography, Doppler, Color , Capillaries/abnormalities , Arteriovenous Fistula , Hemangioma , Arteriovenous Malformations , Vascular Malformations/classification , Soft Tissue Neoplasms , Lymphatic System/abnormalities , Lymphatic System/blood supply , Veins/abnormalities
13.
Rev Neurol ; 48(2): 58-60, 2009.
Article in Spanish | MEDLINE | ID: mdl-19173201

ABSTRACT

AIMS: To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensus basis, to 'reasons for medical consultation', 'diagnoses' and 'procedures' in child neurology. MATERIALS AND METHODS: The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned the most appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system's coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). RESULTS: Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the working group did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. CONCLUSIONS: The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to be retrospectively analyzed and shared by the different health centers.


Subject(s)
International Classification of Diseases , Nervous System Diseases/classification , Neurology/methods , Pediatrics/methods , Adolescent , Child , Child, Preschool , Diagnosis-Related Groups , Disease Management , Hospitals, Urban/statistics & numerical data , Humans , Infant , Infant, Newborn , Nervous System Diseases/diagnosis , Nervous System Diseases/epidemiology , Nervous System Diseases/therapy , Spain/epidemiology
14.
Rev. neurol. (Ed. impr.) ; 48(2): 58-60, 16 ene., 2009.
Article in Es | IBECS | ID: ibc-71855

ABSTRACT

Objetivos. Análisis y adaptación consensuada de la codificación de la Clasificación Internacional de Enfermedades, 9.ª revisión (CIE-9), a los motivos de consulta, diagnósticos y procedimientos en neurología pediátrica. Materiales y métodos. Se seleccionan los motivos de consulta, diagnósticos y procedimientos más frecuentes en neuropediatría y se les asignael código más apropiado de la CIE-9-MC (5.ª ed.) según las normas de codificación de dicho sistema. Se han agrupado las patologías por secciones, las cuales se han adjudicado a los distintos miembros del grupo de trabajo (13 neurólogos pediátricos de 10 hospitales de Madrid capital y área periférica). Resultados. Se exponen en www.neurologia.com/cie-9. Se han asignadocódigos de la CIE-9-MC (5.ª ed.) a 158 motivos de consulta, 886 diagnósticos, 73 procedimientos diagnósticos y 53 procedimientos terapéuticos. Siempre se ha intentado buscar el código de la CIE-9 más apropiado para los distintos diagnósticos.No se han inventado códigos, aunque el grupo de trabajo se ha tomado algunas libertades de interpretación que respetan la filosofía general de la CIE-9-MC y que se describen en el texto. Conclusión. La creación de esta adaptación de la CIE-9 potenciará la codificación diagnóstica en los servicios de neurología pediátrica, dotándolos además de una herramienta útil parala elaboración de bases de datos que permitan el análisis retrospectivo de la información, y compartirla entre los distintos centros


Aims. To analyze International Classification Diseases, 9th revision (ICD-9) coding and adapt it, on a consensusbasis, to ‘reasons for medical consultation’, ‘diagnoses’ and ‘procedures’ in child neurology. Materials and methods. The most frequent reasons for medical consultation, diagnoses and procedures in neuropediatrics were selected and assigned themost appropriate ICD-9, Clinical Modification (5th ed.) (ICD-9-CM) codes in accordance with this system’s coding rules. Disorders were grouped by sections, and allocated to the various members of the working group (13 child neurologists from 10 hospitals in Madrid and environs). Results. Available on the web www.neurologia.com/cie-9. ICD-9-CM codes were assigned to: 158 reasons for medical consultation; 886 diagnoses; 73 diagnostic procedures; and 53 therapeutic procedures. In every case, the most appropriate ICD-9 code was sought for the respective diagnosis. No codes were invented but the workinggroup did take certain liberties with interpretation, which nevertheless showed respect for general ICD-9-CM philosophy and are described in full in the text. Conclusions. The creation of this ICD-9 adaptation will not only enhance diagnostic coding in child neurology departments, but will also provide them with a useful tool for setting up databases to enable information to beretrospectively analyzed and shared by the different health centers


Subject(s)
Humans , Male , Female , Child , International Classification of Diseases , Nervous System Diseases/classification , Nervous System Diseases/diagnosis , Civil Codes
15.
J Endocrinol Invest ; 31(9): 773-8, 2008 Sep.
Article in English | MEDLINE | ID: mdl-18997488

ABSTRACT

Besides its key role in the regulation of muscle growth during development, myostatin also appears to be involved in muscle homeostasis in adults, and its expression is upregulated during muscle atrophy. Since muscle physiology is greatly influenced by thyroid status, and the myostatin promoter region contains several putative thyroid hormone response elements, in the present study we examined the possible role of thyroid hormones in the regulation of myostatin gene expression. Adult male rats were made either hypothyroid or hyperthyroid by means of administration of 0.1% amino- triazole (AMT) in drinking water for 4 weeks, or daily injections of Levo-T4 (L-T4) (100 microg/rat) for 3 weeks, respectively. At the end of the treatment period, both myostatin mRNA and protein content were increased in AMT-treated rats in relation to control rats. In contrast, no changes in myostatin mRNA levels were detected in L-T4-treated rats. The role of thyroid hormones in the regulation of myostatin expression was also investigated in C2C12 cells in vitro. Treatment of C2C12 cells with thyroid hormones stimulated their differentiation into multinucleated myotubes, but did not induce any change in myostatin mRNA abundance. In all, our findings demonstrate that myostatin expression is increased in hypothyroid rats, thus supporting a possible role for this factor in the pathogenesis of the muscle loss that may occur in hypothyroidism.


Subject(s)
Hypothyroidism/metabolism , Myostatin/biosynthesis , Amitrole/pharmacology , Animals , Blotting, Western , Cell Line , Gene Expression Regulation , Hyperthyroidism/genetics , Hyperthyroidism/metabolism , Hypothyroidism/genetics , Male , Mice , Motor Activity , Muscle, Skeletal/metabolism , Myostatin/genetics , RNA, Messenger/biosynthesis , RNA, Messenger/genetics , Rats , Rats, Sprague-Dawley , Reverse Transcriptase Polymerase Chain Reaction , Statistics, Nonparametric , Video Recording
16.
Rev Neurol ; 47(2): 79-82, 2008.
Article in Spanish | MEDLINE | ID: mdl-18623006

ABSTRACT

INTRODUCTION: Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. CASE REPORTS: Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformation and hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right hand and clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. CONCLUSIONS: Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient's life.


Subject(s)
Abnormalities, Multiple/diagnosis , Facial Bones/abnormalities , Foot Deformities, Congenital/diagnosis , Joint Dislocations/congenital , Spinal Cord Compression/diagnosis , Adolescent , Female , Humans , Infant , Male , Syndrome
17.
Rev. neurol. (Ed. impr.) ; 47(2): 79-82, 14 jul., 2008. ilus
Article in Es | IBECS | ID: ibc-69645

ABSTRACT

Introducción. El síndrome de Larsen se caracteriza por luxaciones congénitas irreductibles de múltiples articulaciones, así como por deformidad podálica marcada. La cara de estos pacientes es aplanada, con la nariz corta, el puente ancho y deprimido y la frente prominente. Nos proponemos describir en esta nota clínica dos casos que cursaron con afectación medular.Casos clínicos. Caso 1: niña de 18 meses con luxación congénita de rodillas y caderas. Facies aplanada, raíz nasal hundida, boca en carpa. La resonancia magnética de la columna mostraba cifosis cervical grave secundaria a malformación e hipoplasia de cuerpos vertebrales cervicales e importante compresión medular. Clínicamente, se acompañaba de signos clínicos deprimera motoneurona, de forma marcada en los miembros inferiores. Caso 2: varón de 14 años con facies característica y luxación de la cabeza del radio. Presentaba amiotrofia de la musculatura de la mano derecha y signos clínicos de la segunda motoneuronapor daño neuronal secundario a malformaciones vertebrales. Conclusiones. El síndrome de Larsen es una osteocondrodisplasia infrecuente. La alteración de la columna vertebral es habitual, y puede ocasionar compresión medular de repercusión clínica variable, que precise intervención quirúrgica en los primeros años de vida


Introduction. Larsen syndrome is characterised by untreatable congenital dislocation of multiple body joints, along with marked foot deformities. These patients have a flattened face with a short nose, a broad depressed nasal bridge and a prominent forehead. In this clinical note our aim is to report two cases that coursed with spinal cord compromise. Case reports. Case 1: an 18-month-old female with congenital dislocation of knees and hips. The patient had a flat face, sunken root of nose, and carp mouth. Magnetic resonance imaging of the spine showed severe cervical kyphosis secondary to malformationand hypoplasia of the cervical vertebral bodies and important compression of the spinal cord. Clinically, there were also signs of upper motor neuron syndrome, which was especially prominent in the lower limbs. Case 2: a 14-year-old male with a characteristic face and dislocation of the head of the radius. The patient presented amyotrophy of the muscles in the right handand clinical signs of lower motor neuron syndrome due to neuronal damage secondary to spinal malformations. Conclusions. Larsen syndrome is an infrequent osteochondrodysplasia. Alteration of the spine is common and may give rise to spinal cord compression with varying clinical repercussions which require surgical treatment in the early years of the patient’s life


Subject(s)
Humans , Male , Female , Infant , Adolescent , Osteochondrodysplasias/diagnosis , Spinal Cord Compression/diagnosis , Joint Dislocations/congenital , Intellectual Disability , Hydrocephalus , Facies
18.
Cephalalgia ; 27(6): 550-6, 2007 Jun.
Article in English | MEDLINE | ID: mdl-17459082

ABSTRACT

Several publications have recently suggested that atrial septal defect may be associated with the physiopathology of headache with migraine-type characteristics. We describe four previously asymptomatic paediatric patients with atrial septal defect who underwent percutaneous Amplatzer septal occluder device implantation and who subsequently developed symptoms compatible with migraine headache. The cases had normal echocardiograms after the intervention and a benign course with headache improvement after several weeks or months. There are paediatric patients with atrial septal defect who may dramatically develop migraine symptoms with or without aura following percutaneous correction of their defect. Large paediatric studies are needed to offer accurate prognoses for children and their families. The possibility of using clopidogrel to treat this type of headache is subject to debate.


Subject(s)
Cardiac Surgical Procedures/adverse effects , Heart Septal Defects, Atrial/surgery , Migraine Disorders/etiology , Postoperative Complications , Adolescent , Child, Preschool , Echocardiography, Transesophageal , Female , Heart Septal Defects, Atrial/diagnostic imaging , Humans , Male , Prostheses and Implants
20.
Rev. chil. radiol ; 13(3): 109-121, 2007. ilus
Article in Spanish | LILACS | ID: lil-627510

ABSTRACT

Vascular anomalies include different pathologies as hemangiomas and vascular malformations, however they usually are reported together and confusion is created. Mülliken and Glowacki proposed a classification posteriorly, modificated, adapted and actually in use. Unfortunately is not sufficiently known for our radiologist. Classification and imaging correlation of soft-tissue vascular anomalies are revised, since a exact diagnosis is a great value for appropriate treatment and prognosis.


Las anomalías vasculares han sido tradicionalmente tratadas en conjunto aun cuando engloban patologías tan diferentes como hemangiomas y malformaciones vasculares. La clasificación dada a conocer por Mülliken y Glowacki, modificada posteriormente, no es suficientemente conocida ni usada en nuestro medio. Se revisa la clasificación actual y la correlación con imágenes de aquellas anomalías vasculares situadas en partes blandas, dada la importancia que tiene un correcto diagnóstico para la terapéutica y pronóstico de los pacientes con estas lesiones.


Subject(s)
Humans , Soft Tissue Neoplasms/diagnostic imaging , Vascular Malformations/diagnostic imaging , Hemangioma/diagnostic imaging , Connective Tissue/blood supply , Vascular Malformations/classification , Vascular Malformations/pathology , Hemangioma/pathology , Neoplasms, Connective Tissue/pathology
SELECTION OF CITATIONS
SEARCH DETAIL
...