Asunto(s)
Lesiones Encefálicas/diagnóstico , Encéfalo/patología , Aumento de la Imagen , Procesamiento de Imagen Asistido por Computador , Imagen por Resonancia Magnética , Síndrome del Bebé Sacudido/diagnóstico , Lesiones Encefálicas/epidemiología , Imagen de Difusión por Resonancia Magnética , Humanos , Lactante , Recién Nacido , Sensibilidad y Especificidad , Síndrome del Bebé Sacudido/epidemiología , Fracturas Craneales/diagnóstico , Tomografía Computarizada por Rayos XAsunto(s)
Encefalopatías/diagnóstico , Imagen de Difusión por Resonancia Magnética/métodos , Encéfalo/crecimiento & desarrollo , Hemorragia Cerebral/diagnóstico , Encefalitis/diagnóstico , Humanos , Hipoxia-Isquemia Encefálica/diagnóstico , Interpretación de Imagen Asistida por Computador , Procesamiento de Imagen Asistido por Computador/métodos , Lactante , Recién Nacido , Recien Nacido Prematuro , Enfermedades del Prematuro/diagnóstico , Accidente Cerebrovascular/diagnósticoRESUMEN
Epilepsy is a chronic disease, often with an onset during childhood and characterized by spontaneous and recurrent seizures. It concerns 0.5-1% of children under 16 years of age. A classification proposed by the International League Against Epilepsy (ILEA) in 2001 takes into account recent genetic factors involved in epilepsy and attenuates the sharp demarcation between generalized and partial seizures. This classification tends to define whether imaging is indicated or not. Imaging is useless in simple cases of fits associated with hyperthermia and in benign idiopathic epilepsy. It is debated if it is a first episode of epilepsy without a particular context and no neurological signs. In all other cases of epilepsy in children, imaging is indicated. In descending order of frequency the possible causes include malformations (as abnormal gyral development and phakomatoses), hypoxic-ischemic lesions, non-accidental injuries, infections, metabolic diseases and tumors. Being much more sensitive than computed tomography (CT), magnetic resonance imaging (MRI) is the technique of choice to identify an underlying cause in symptomatic epilepsy. Clinical data are mandatory in order to direct a proper MRI investigation. The recently developed diffusion-weighted sequence is particularly useful in the acute phase of certain events such as hypoxia-ischemia, trauma and metabolic disease. CT scan is used in emergency situations and also as a complement to MRI for example to identify calcified lesions. In this way, imaging contributes to establish the nature and define the extension of epileptogenic lesions, thereby guiding therapeutic management. MRI also allows follow-up of the consequences of repeated seizures (such as mesial temporal sclerosis and selective neuronal necrosis) on the cerebral parenchyma and plays a role in the establishment of a prognosis.
Asunto(s)
Encéfalo/patología , Epilepsia/diagnóstico , Imagen por Resonancia Magnética , Adolescente , Encéfalo/diagnóstico por imagen , Encefalopatías/complicaciones , Encefalopatías/diagnóstico , Encefalopatías/diagnóstico por imagen , Niño , Preescolar , Diagnóstico Diferencial , Imagen de Difusión por Resonancia Magnética , Urgencias Médicas , Epilepsia/clasificación , Epilepsia/diagnóstico por imagen , Epilepsia/etiología , Femenino , Humanos , Lactante , Recién Nacido , Masculino , Pronóstico , Sensibilidad y Especificidad , Tomografía Computarizada por Rayos XRESUMEN
Intestinal duplication is an uncommon congenital anomaly that often is diagnosed during childhood. Ultrasound diagnosis is based on the presence of a characteristic double-walled cystic mass. We report a case of duplication in a three Month old child presenting with small bowel obstruction. This case is unusual due to the presence of calcifications that are uncommon in intestinal duplication.
Asunto(s)
Calcinosis/etiología , Quistes/etiología , Obstrucción Intestinal/etiología , Intestino Delgado , Diagnóstico Diferencial , Dilatación Patológica , Ecocardiografía Doppler en Color , Femenino , Humanos , Lactante , Intestino Delgado/anomalías , Intestino Delgado/diagnóstico por imagen , Intestino Delgado/cirugía , Selección de Paciente , Enfermedades Raras/complicaciones , Enfermedades Raras/diagnóstico , Enfermedades Raras/cirugía , Tomografía Computarizada por Rayos X , Vómitos/etiologíaRESUMEN
Periventricular leukomalacia (PVL) consists of focal coagulation necrosis and of more diffuse and mild white matter involvement as gliosis and lesions of immature oligodendrocytes. PVL affects essentially the premature newborn and has become the dominant form of perinatal neurological insults. Its diagnosis remains difficult to assess as neurological examination is poorly contributive. Diagnostic imaging plays an important role as it completes clinical, biological and electrophysiological data in depicting the cerebral lesions. Cerebral ultrasound remains the first imaging modality to perform in order to investigate and follow ill neonates. However ultrasound has a low sensitivity and specificity in depicting non cavitated PVL. Magnetic resonance imaging (MRI), in the acute stage, provides additional information about the extension and the depiction of hemorrhagic component of the lesions. Furthermore, diffusion-weighted MRI appears useful for the early identification of the diffuse component of PVL. MRI in the chronic stage is the only imaging method to study the progress of myelination and precise the extension of sequellar lesions.
Asunto(s)
Leucomalacia Periventricular/diagnóstico , Ecocardiografía , Humanos , Recién Nacido , Leucomalacia Periventricular/diagnóstico por imagen , Leucomalacia Periventricular/fisiopatología , Imagen por Resonancia MagnéticaAsunto(s)
Traumatismos Craneocerebrales/diagnóstico por imagen , Bienestar del Lactante , Traumatismos de la Médula Espinal/diagnóstico por imagen , Heridas y Lesiones/diagnóstico por imagen , Diagnóstico Diferencial , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos X , UltrasonografíaRESUMEN
A case of gastric pneumatosis is described in a 6 month old girl with Down syndrome. Plain abdominal radiographs showed a radiolucent rim within the gastric wall and a dilated stomach. Ultrasonography showed diffuse echoic streaks of air in the gastric wall, pneumobilia and gastroduodenal dilatation. Upper GI series showed duodenal stenosis. Gastric pneumatosis (air within the gastric wall), is an unusual radiographic finding. It may be of mechanical or inflammatory origin or, in some rare cases, remain unexplained.
Asunto(s)
Síndrome de Down/complicaciones , Obstrucción Duodenal/complicaciones , Obstrucción Duodenal/diagnóstico , Enfisema/etiología , Gastropatías/etiología , Constricción Patológica , Femenino , Humanos , LactanteRESUMEN
BACKGROUND: Presently, the only sonographic parameters used to follow puberty in girls are size and morphology of the uterus and ovaries. Doppler of the uterine artery appears a useful complementary parameter to follow puberty. OBJECTIVE: To determine the potential contribution of Doppler evaluation of the uterine artery in girls around puberty. MATERIALS AND METHODS: We investigated 61 healthy female volunteers aged 2-15 years (mean 10.3 years). In each girl we performed a standard pelvic transabdominal US examination, including measurement of the uterus and ovaries. Uterine arteries were visualized by colour Doppler and a pulsed signal was obtained in each patient. The blood flow velocity waveform was analysed and the pulsatility index (PI) was calculated. Growth of the uterus and ovaries was plotted against age, and the PI was compared to each of the other studied variables (age, size of uterus, volume of ovaries). RESULTS: We observed a strong negative correlation between the PI of the uterine artery and the usually studied variables. We also observed a progressive modification of the Doppler signal pattern of the uterine artery during the establishment of puberty: the narrow systolic flow waves found in prepubertal girls were progressively replaced by a systolic-diastolic flow wave. CONCLUSIONS: The demonstration of diastolic flow can confirm the onset of puberty.
Asunto(s)
Pubertad/fisiología , Útero/irrigación sanguínea , Útero/diagnóstico por imagen , Adolescente , Arterias/diagnóstico por imagen , Velocidad del Flujo Sanguíneo , Niño , Preescolar , Femenino , Humanos , Ovario/diagnóstico por imagen , Ovario/crecimiento & desarrollo , Pubertad Tardía/diagnóstico por imagen , Pubertad Tardía/fisiopatología , Flujo Pulsátil/fisiología , Ultrasonografía , Útero/crecimiento & desarrolloRESUMEN
The aim of this chapter is to familiarize the radiologists with the evolutive morphological features of the female genital apparatus, as it can be seen during the puberty, and to view the pathologies panel which may occur in ths period of life. This chapter is going to illustrate the morphological sonographic modifications from the childhood to the adolescence, emphasing the signs of pubertal maturation (uterus and ovaries shape, size and vascularization). Through clinical signs (delayed sexual maturation, primary or secondary amenorrhea, menstrual dysfunction, acute, cyclic, chronic pelvic pain and pelvic mass) the different pathologies are viewed, illustrating the important role of ultrasonography, but not an exclusive role.
Asunto(s)
Enfermedades de los Genitales Femeninos/diagnóstico , Adolescente , Femenino , Enfermedades de los Genitales Femeninos/diagnóstico por imagen , Enfermedades de los Genitales Femeninos/patología , Humanos , Radiografía , UltrasonografíaRESUMEN
The diagnostic and prognostic value of magnetic resonance imaging in the tuberous sclerosis complex has increasingly been recognized. In this paper, we review the presumed pathogenesis of the cerebral dysgenesis seen in this condition in the light of magnetic resonance imaging features of selected patients. In addition to typical findings related to tubers, we show and discuss varied cortical malformations (from simple localized cortical dysplasia to transmantle dysplasia and schizencephaly) similar to those seen in sporadic cerebral dysgenesis. These cases support the hypothesis that the tuberous sclerosis complex focally affects the radial glial-neuronal complex as a basic unit for brain development. Abnormal stem cells would create dysplastic glia and neurons that fail to differentiate, proliferate, migrate and form a normally organized cortex.
Asunto(s)
Corteza Cerebral/anomalías , Corteza Cerebral/patología , Esclerosis Tuberosa/complicaciones , Esclerosis Tuberosa/patología , Diferenciación Celular/fisiología , Movimiento Celular/fisiología , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Neuronas/patologíaRESUMEN
We report on a new-born girl with multiple congenital anomalies consisting of major skeletal anomalies restricted to the left side, cleft palate, ventricular and atrial septal defect, retromicrognathia, short neck, dysplastic low-set ears and large birth weight. The left-side bony anomalies include shortening and bowing of the femur and tibia, hypoplasia of the fibula, hip dislocation, clubfoot and mild shortening of the long tubular bones in the left arm with elbow dislocation. The pregnancy was complicated by insulin-dependent gestational diabetes mellitus in the mother. The radiographic features were not consistent with the diagnosis of campomelic dysplasia, kyphomelic dysplasia or other skeletal dysplasias characterized by bowing and shortening of the long bones. To our knowledge, the multiple congenital anomalies, including major skeletal malformations, present in our case have never been simultaneously reported until now. A maternal diabetes syndrome in this infant is probable. The occurrence of major congenital malformations in offspring of women with gestational diabetes is reviewed and discussed. We provide evidence that gestational diabetes mellitus could be teratogenic. We recommend a careful diabetic control in every woman with a history of gestational diabetes.
Asunto(s)
Anomalías Múltiples/etiología , Huesos de la Extremidad Superior/anomalías , Diabetes Mellitus Tipo 1/complicaciones , Diabetes Gestacional/complicaciones , Huesos de la Pierna/anomalías , Embarazo en Diabéticas/complicaciones , Anomalías Múltiples/diagnóstico por imagen , Adulto , Huesos de la Extremidad Superior/diagnóstico por imagen , Diagnóstico Diferencial , Femenino , Humanos , Recién Nacido , Huesos de la Pierna/diagnóstico por imagen , Masculino , Persona de Mediana Edad , Anomalías Musculoesqueléticas/diagnóstico por imagen , Anomalías Musculoesqueléticas/etiología , Embarazo , RadiografíaRESUMEN
We report the clinical, radiological and electrophysiological signs in two unrelated girls with the connatal form of Pelizaeus-Merzbacher disease (PMD). MRI plays an important role in the diagnosis, demonstrating the virtual absence of myelination. PMD is classically described as an X-linked leukodystrophy. Our two cases reinforce the hypothesis of a possible autosomal recessive transmission of the connatal form of PMD in some families, as recently presented.
Asunto(s)
Enfermedad de Pelizaeus-Merzbacher/diagnóstico , Enfermedad de Pelizaeus-Merzbacher/genética , Diagnóstico Diferencial , Electroencefalografía , Potenciales Evocados , Femenino , Genes Recesivos , Humanos , Lactante , Imagen por Resonancia Magnética , Cromosoma XRESUMEN
OBJECTIVE: Prognostic value of a magnetic resonance imaging (MRI) scoring system in infants with a severe apparent life threatening event (ALTE). METHODS: Ten infants with an ALTE (aged between 6 and 31 weeks) were clinically graded according to the PRISM score and evaluated with EEG, evoked potentials and MRI. The 18 MRIs obtained were distributed in 3 classes according to the delay after which they were obtained; class A (n=5): within the first 48 hours after the event, class B (n=7): between day 3 and 8 and class C (n=6): between day 9 and 50. The 18 MRIs were evaluated retrospectively using a scoring system based on 3 categories of lesions: edema, basal ganglia injury and watershed injuries. Five infants died between day 2 and day 15 after the event. The five surviving infants had follow up neurodevelopmental testing after 38 to 77 months. RESULTS: There was no correlation between the 5 MRIs of class A and the neurological outcome. For the MRIs of class B and C, the scoring system can be of great value when combined with the scores of EEG, EP and PRISM. CONCLUSIONS: The scoring system for MRI performed within 48 hours after the event is falsely reassuring. MRI can be helpful as early as 3 days after the event when combined with the score of the electrophysiological investigations and the PRISM.
Asunto(s)
Hipoxia-Isquemia Encefálica/diagnóstico , Imagen por Resonancia Magnética , Muerte Súbita del Lactante , Enfermedades de los Ganglios Basales/diagnóstico , Edema Encefálico/diagnóstico , Parálisis Cerebral/etiología , Cuidados Críticos , Electroencefalografía , Epilepsia/etiología , Potenciales Evocados/fisiología , Femenino , Estudios de Seguimiento , Hemiplejía/etiología , Humanos , Lactante , Discapacidad Intelectual/etiología , Masculino , Examen Neurológico , Paraplejía/etiología , Valor Predictivo de las Pruebas , Pronóstico , Cuadriplejía/etiología , Estudios Retrospectivos , Factores de TiempoRESUMEN
Keutel syndrome (KS, MIM 245150) is an autosomal recessive disorder characterized by abnormal cartilage calcification, peripheral pulmonary stenosis and midfacial hypoplasia. A genome search using homozygosity mapping provided evidence of linkage to chromosome 12p12.3-13.1 (maximum multipoint lod score, 4.06). MGP was a candidate on the basis of its localization to this chromosomal region and the known function of its protein. MGP maps to chromosome 12p near D12S363. Human MGP is a 10-kD skeletal extracellular matrix (ECM) protein that consists of an 84-aa mature protein and a 19-aa transmembrane signal peptide. It is a member of the Gla protein family, which includes osteocalcin, another skeletal ECM protein, and a number of coagulation factors (factors II, VII, IX, X and proteins S and C). All members of this family have glutamic acid residues modified to gamma-carboxyglutamic acids (Gla) by a specific gamma-carboxylase using vitamin K as a cofactor. The modified glutamic acid residues of Gla proteins confer a high affinity for mineral ions such as calcium, phosphate and hydroxyapatite crystals, the mineral components of the skeletal ECM. The pattern and tissue distribution of Mgp expression in mice suggest a role for Mgp in regulating ECM calcification. Mglap-deficient mice (Mglap-/-) have been reported to have inappropriate calcification of cartilage. Mutational analysis of MGP in three unrelated probands identified three different mutations: c.69delG, IVS1-2A-->G and c.113T-->A. All three mutations predict a non-functional MGP. Our data indicate that mutations in MGP are responsible for KS and confirm its role in the regulation of extracellular matrix calcification.
Asunto(s)
Anomalías Múltiples/genética , Proteínas de Unión al Calcio/genética , Cromosomas Humanos Par 12 , Proteínas de la Matriz Extracelular , Mutación , Anomalías Múltiples/fisiopatología , Deleción Cromosómica , Femenino , Humanos , Masculino , Linaje , Síndrome , Proteína Gla de la MatrizRESUMEN
Maternal diabetes is known to be a condition associated with a high frequency of fetal malformations. However, pathogenic factors for these malformations and their possible classification into different entities are not yet well established. We present the case of an infant born to a diabetic mother and affected by several malformations. This report consolidates different hypotheses put forward in recent years.
Asunto(s)
Anomalías Múltiples/etiología , Huesos/anomalías , Enfermedades Fetales/etiología , Cardiopatías Congénitas/etiología , Embarazo en Diabéticas , Adulto , Fisura del Paladar/etiología , Femenino , Humanos , Masculino , EmbarazoRESUMEN
A 2-month-old boy presented with cartilage calcification, brachytelephalangism, peripheral pulmonary stenosis, hearing loss, short stature and slight psychomotor delay. This case is similar to the two cases described by Keutel in 1972. Since then, four other cases have been reported; we report the seventh case and discuss the clinical findings and the incidence of the disease.