RESUMEN
OBJECTIVE: To evaluate the sensitivity of multidetector computed tomography for confirming suspected foreign body aspiration into the airways in children. METHOD: We conducted a multicentre prospective study of 303 children evaluated using multidetector computed tomography with axial analysis complemented by multiplanar reconstruction when required. The images were read by a radiologist before endoscopy then reviewed later by a senior radiologist blinded to the endoscopy findings. Endoscopy was performed routinely. RESULTS: Foreign bodies were found by endoscopy in 70 of the 303 children. The initial multidetector computed tomography reading was 94% sensitive and 95% specific. For the review, the images for 91 patients were excluded because of motion blurring or absence of larynx visualisation; in the remaining 212 patients, sensitivity was 98% and specificity 97%. CONCLUSION: Multidetector computed tomography as performed in our patients cannot replace endoscopy, which remains the reference standard. Nevertheless, multidetector computed tomography is sufficiently sensitive to be of value when foreign body aspiration is not considered initially or when endoscopy is likely to prove challenging.
Asunto(s)
Endoscopía/métodos , Cuerpos Extraños/diagnóstico por imagen , Laringe/diagnóstico por imagen , Tomografía Computarizada Multidetector/métodos , Aspiración Respiratoria/diagnóstico por imagen , Tráquea/diagnóstico por imagen , Adolescente , Bronquios , Niño , Preescolar , Femenino , Cuerpos Extraños/diagnóstico , Francia , Humanos , Lactante , Masculino , Estudios Prospectivos , Sensibilidad y EspecificidadRESUMEN
BACKGROUND: Auriculocondylar syndrome (ACS) is a rare craniofacial disorder consisting of micrognathia, mandibular condyle hypoplasia and a specific malformation of the ear at the junction between the lobe and helix. Missense heterozygous mutations in the phospholipase C, ß 4 (PLCB4) and guanine nucleotide binding protein (G protein), α inhibiting activity polypeptide 3 (GNAI3) genes have recently been identified in ACS patients by exome sequencing. These genes are predicted to function within the G protein-coupled endothelin receptor pathway during craniofacial development. RESULTS: We report eight additional cases ascribed to PLCB4 or GNAI3 gene lesions, comprising six heterozygous PLCB4 missense mutations, one heterozygous GNAI3 missense mutation and one homozygous PLCB4 intragenic deletion. Certain residues represent mutational hotspots; of the total of 11 ACS PLCB4 missense mutations now described, five disrupt Arg621 and two disrupt Asp360. The narrow distribution of mutations within protein space suggests that the mutations may result in dominantly interfering proteins, rather than haploinsufficiency. The consanguineous parents of the patient with a homozygous PLCB4 deletion each harboured the heterozygous deletion, but did not present the ACS phenotype, further suggesting that ACS is not caused by PLCB4 haploinsufficiency. In addition to ACS, the patient harbouring a homozygous deletion presented with central apnoea, a phenotype that has not been previously reported in ACS patients. CONCLUSIONS: These findings indicate that ACS is not only genetically heterogeneous but also an autosomal dominant or recessive condition according to the nature of the PLCB4 gene lesion.
Asunto(s)
Enfermedades del Oído/genética , Oído/anomalías , Mutación , Adulto , Niño , Preescolar , Análisis Mutacional de ADN , Oído/patología , Enfermedades del Oído/patología , Femenino , Subunidades alfa de la Proteína de Unión al GTP Gi-Go/genética , Predisposición Genética a la Enfermedad , Humanos , Lactante , Masculino , Linaje , Fosfolipasa C beta/genética , Reacción en Cadena de la PolimerasaRESUMEN
Highly vascularized malignant soft-tissue tumors can clinically and radiologically mimic deep hemangiomas. We present a case of congenital rhabdomyosarcoma of the neck, which was initially identified as congenital hemangioma.
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Errores Diagnósticos , Neoplasias de Cabeza y Cuello/diagnóstico , Hemangioma/diagnóstico , Rabdomiosarcoma/diagnóstico , Neoplasias de los Tejidos Blandos/diagnóstico , Biopsia , Femenino , Hemangioma/congénito , Humanos , Imagen por Resonancia Magnética , MasculinoRESUMEN
OBJECTIVES: We undertook this report to underline the risks of lesions of the internal carotid artery after lateral oropharyngeal trauma in children and to discuss the diagnosis and treatment of this complication. METHODS: We present 2 pediatric cases of carotid dissection following lateral soft palate trauma. RESULTS: In 1 case, transient symptomatic cerebral ischemia occurred 24 hours after the initial traumatic injury. In both patients, the carotid dissection was assessed by magnetic resonance imaging with vascular and diffusion sequences. Treatment with low-molecular weight heparin calcium was maintained for several months. At the end of follow-up, both children were asymptomatic. CONCLUSIONS: We suggest noninvasive imaging of the carotid artery by enhanced computed tomographic scanning after trauma to the lateral part of the soft palate in children. Magnetic resonance imaging with vascular and diffusion sequences is useful in assessing the extension of the dissection toward the cerebral circulation and in early detection of cerebral ischemia. Anticoagulation with heparin probably reduces the risks of cerebral infarction. Patients must regularly undergo physical examination and noninvasive imaging of the carotid artery for at least 1 year after the traumatic injury.
Asunto(s)
Disección de la Arteria Carótida Interna/etiología , Traumatismos Faciales/complicaciones , Paladar Blando/lesiones , Accidentes por Caídas , Disección de la Arteria Carótida Interna/diagnóstico , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Imagen por Resonancia Magnética , Tomografía Computarizada por Rayos XRESUMEN
We report a case of epignathus teratoma diagnosed at 22 weeks of gestation in which 3-dimensional ultrasound (3DUS) was useful to plan perinatal management. A significant enlargement of the tumor, associated with polyhydramnios and preterm labor, was observed at 35 weeks of gestation. After amniotic fluid evacuation, 3DUS was performed in the presence of pediatricians, obstetricians, and otolaryngologists. Three-dimensional ultrasound revealed that great part of the tumor was located outside the fetal mouth and anterior to fetal mandible, suggesting that the newborn could breathe spontaneously by nasal via. A cesarean section with longitudinal hysterotomy was performed at 36 weeks followed by an immediate extirpation of the tumor and the intubation of the newborn. The management of this rare case illustrates that the ex utero intrapartum treatment (EXIT) procedure is not always necessary in this situation. Besides, the actual prenatal goal consists on carefully selecting fetuses with epignathus teratoma that will need the EXIT procedure from those that will not. Three-dimensional ultrasound and magnetic resonance imaging in association with 2DUS can be helpful in this prenatal selection.
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Neoplasias de la Boca/diagnóstico por imagen , Neoplasias de la Boca/cirugía , Teratoma/diagnóstico por imagen , Teratoma/cirugía , Ultrasonografía Prenatal , Adulto , Cesárea , Femenino , Humanos , Imagenología Tridimensional , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Periodo Posparto , EmbarazoAsunto(s)
Neoplasias Faciales/complicaciones , Hemangioma/complicaciones , Neoplasias Laríngeas/complicaciones , Neoplasias Cutáneas/complicaciones , Femenino , Hemangioma/congénito , Humanos , Lactante , Recién Nacido , Neoplasias Laríngeas/congénito , Masculino , Pronóstico , Estudios RetrospectivosRESUMEN
BACKGROUND: Although tonsil and adenoid (T&A) enlargement in children is a leading cause of it, Obstructive Sleep Apnea (OSA) may occur at any age. But even after T&A surgery, some children experience recurrent apneic episodes. The reasons for possible recurrence are unclear. OBJECTIVE: To quantify the prevalence of recurrent OSA after T&A surgery and find out a common cause of OSA in children from the neonatal period to adulthood. METHOD: A retrospective report of apneic patients followed in a tertiary-care center is presented. Telephone interviews of parents were performed 3 years after T&A surgery. The questionnaire included night and day symptoms related to sleep-disordered breathing (SDB). A literature review was performed about associated causes of upper airway stenosis. RESULTS: Out of 59 children who were included to follow up, 5 (8.5%) experienced residual or recurrent symptoms of SDB. The literature suggests the role of skeletal abnormalities in this process through nasal or pharyngeal stenosis. Major craniofacial anomalies are a well-known cause of obstruction. Thickened soft tissue has to be ruled out. Minor stenoses or neuromuscular disorders are less often diagnosed although they seem to be involved as well. CONCLUSION: A longitudinal follow-up of apneic children is able to reveal recurrence of SDB after adenotonsillectomy and often allows the understanding of mechanisms of upstream-induced recurrent pharyngeal obstructions.
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Apnea Obstructiva del Sueño/fisiopatología , Apnea Obstructiva del Sueño/terapia , Adolescente , Niño , Preescolar , Femenino , Estudios de Seguimiento , Humanos , Masculino , Apnea Obstructiva del Sueño/epidemiología , Encuestas y CuestionariosRESUMEN
Concha bullosa is the most common anatomic variant of the middle turbinate and remains usually asymptomatic. We report a case of concha bullosa pyocele with a subdural empyema in a 11-year-old girl presenting with a subcutaneous tumefaction without neurologic deficit. Computed tomography and magnetic resonance imaging confirmed a subdural empyema communicating with subcutaneous effusion and the presence of a concha bullosa pyocele being responsible for the obstruction of ostiomeatal complex leading to frontal sinusitis. Resection of the middle turbinate with a middle meatotomy and a frontal skin incision combined with an adequate antibiotic treatment allowed this child to recover within 6 weeks.
Asunto(s)
Empiema Subdural/complicaciones , Mucocele/diagnóstico , Enfermedades de los Senos Paranasales/complicaciones , Cornetes Nasales , Niño , Femenino , Sinusitis Frontal/etiología , Humanos , Obstrucción Nasal/complicaciones , Cornetes Nasales/cirugíaRESUMEN
UNLABELLED: Pierre Robin sequence (posterior U-shape cleft palate, glossoptosis, retrognathia) (PRS) is a frequent and heterogeneous neonatal condition of obscure origin. We show here that orodigestive and cardiorespiratory functional disorders are very frequent in PRS and that these functional disorders, as well as anatomical and embryological data, argue for the involvement of brainstem dysfunction in the pathogenesis of some cases of isolated PRS. A total of 66 infants consecutively admitted for isolated PRS were followed-up with observations and investigations focused on their orodigestive and cardiorespiratory disorders. Neonatal clinical examination and neonatal anatomical aspects of the three orofacial features of the sequence were evaluated. Feeding difficulties and respiratory disorders were recorded and infants were classified according to three grades of severity. The relation between functional severity grade and neonatal orofacial features was evaluated, as well as the relation between functional severity grade and specific criteria characterising oesophageal and laryngeal motility and cardiac orthoparasympathetic imbalance. In the first weeks of life, sucking and swallowing disorders (100%), excessive regurgitation (94%), upper airways obstruction (50%), and cardiac vagal overactivity (59%) were noted. Correlation of anatomical features with functional severity grades was poor except for extreme forms of glossoptosis and retrognathia. Specific anomalies of oesophageal motility, pharyngolaryngeal tone and parasympathetic cardiac regulation were described. These anomalies were more frequent in children with the two higher grades of functional severity. CONCLUSION: infants with Pierre Robin sequence have early and severe anomalies of orodigestive and cardiorespiratory function which do not appear to be related solely to anatomical features and which require proper medical management. We suggest a prenatal and neonatal brainstem dysfunction as a neuroembryological hypothesis to explain the onset of some cases of Pierre Robin sequence.