RESUMO
OBJECTIVES: We investigated whether prenatal magnetic resonance imaging (MRI) within 26 weeks of gestation (GW) may predict the fate of isolated upward rotation of the cerebellar vermis (URCV). METHODS: This retrospective multicentre observational study included foetuses diagnosed with isolated URCV in prenatal MRI performed within 26 GW. Isolated URCV was defined by a brainstem-vermis angle (BVA) ≥ 12° in the MR midline sagittal view without abnormalities of the supratentorial structures, brainstem, or cerebellum hemispheres. The assessments included the BVA, clival-supraoccipital angle, transverse diameter of the posterior cranial fossa, tentorial angle, width of the cisterna magna (WCM), ventricular width, vermian diameters, hypointense stripes, and cerebellar tail sign. Late prenatal or postnatal MRI was used as a reference standard to assess the final vermian fate (rotated/de-rotated). RESULTS: Forty-five foetuses (mean GW at prenatal MRI = 21.5 ± 1.4 weeks) were included. In the reference standard, the vermis was de-rotated in 26 cases (57.7%). At least two of the following criteria were used to predict the persistence of URCV at imaging follow-up: BVA ≥ 23°, WCM ≥ 9 mm, and the cerebellar tail sign. The results were a sensitivity of 84.21% (95% CI, 60.4-96.6%), specificity of 80.8% (95% CI, 60.6-93.4%), positive predictive value of 76% (95% CI, 58.7-87.8%), and negative predictive value of 87.5% (95% CI, 70.9-95.2%). CONCLUSIONS: MRI within 26 GW on foetuses diagnosed with isolated URCV may predict delayed cerebellar vermis de-rotation, which is associated with good neurodevelopmental outcome in most cases. KEY POINTS: ⢠Foetal MRI is a valuable tool in predicting the fate of isolated upward-rotated cerebellar vermis. ⢠A wider angle between the brainstem and vermis is associated with higher risk of persistence of vermian rotation. ⢠The presence of ≥ 2 factors among a brainstem-to-vermis angle ≥ 23°, width of the cisterna magna ≥ 9 mm, and the presence of the "cerebellar tail sign" has a sensitivity of 84.21% (95% CI, 60.4-96.6%) and specificity of 80.8% (95% CI, 60.6-93.4%) in predicting the persistence of the vermian rotation at imaging follow-up.
Assuntos
Vermis Cerebelar/diagnóstico por imagem , Idade Gestacional , Anormalidade Torcional/diagnóstico por imagem , Tronco Encefálico , Vermis Cerebelar/anormalidades , Vermis Cerebelar/embriologia , Cerebelo/diagnóstico por imagem , Fossa Craniana Posterior , Diagnóstico Diferencial , Feminino , Feto , Humanos , Imageamento por Ressonância Magnética/métodos , Gravidez , Diagnóstico Pré-Natal , Remissão Espontânea , Estudos Retrospectivos , Sensibilidade e Especificidade , Anormalidade Torcional/embriologiaRESUMO
Grisel syndrome is a rare, nontraumatic atlantoaxial subluxation, typical of developmental ages and characterized by head flexion/rotation and painful fixation. Neurological symptoms may occur. It is secondary to head/neck infections and ear, nose, and throat surgery (adenoidectomy, tonsillectomy, and mastoidectomy). Here, we report the case of a child who presented a painful stiff neck following an adenotonsillectomy, with imaging evidencing an atlantoaxial subluxation. The child showed improvement in his condition following a conservative treatment with antibiotics, anti-inflammatory, and analgesic therapy and cervical collar. We believe it is of great significance for clinicians taking into account this peculiar condition in the differential diagnosis of a stiff neck in pediatric patients, thus avoiding misdiagnosis and delays. Indeed, its diagnosis is mainly based on a focused anamnesis associated with the detection of the typical neuroradiological findings.
Assuntos
Pescoço/fisiopatologia , Dor/etiologia , Dor/patologia , Complicações Pós-Operatórias/fisiopatologia , Adenoidectomia/efeitos adversos , Criança , Cefaleia/complicações , Cefaleia/etiologia , Humanos , Imageamento Tridimensional , Imageamento por Ressonância Magnética , Masculino , Cervicalgia/complicações , Cervicalgia/etiologia , Tomógrafos Computadorizados , Torcicolo/complicações , Torcicolo/etiologiaRESUMO
Myelin oligodendrocyte glycoprotein (MOG)-IgG-associated disease (MOGAD) is a relatively uncommon autoantibody demyelinating disorder of the central nervous system (CNS) with heterogeneous clinical manifestations and magnetic resonance imaging (MRI) findings. In recent years, a rare MOGAD subtype characterized by distinct clinical and MRI findings has been described. Seizures and cortical hyperintensities best seen on MRI T2-weighted fluid-attenuated inversion recovery (FLAIR) sequences, associated with headache and cerebral spine fluid (CSF) pleocytosis, are the most important characteristics of this MOGAD entity that is named FLAMES (FLAIR hyperintense cortical lesions in MOG-associated encephalitis with seizures). Because of its rarity and the peculiarities of the brain damage and clinical manifestations, it can be under-recognized and confused with focal viral encephalitis, meningitis, subarachnoid hemorrhage, CNS vasculitis, or mitochondrial cytopathy. We described the case of a 4-year-old previously healthy girl who was admitted for focal-onset, tonic-clonic seizures, fever, and headache, combined with optic neuritis. MRI was characterized by FLAIR imaging showing hyperintense cortical lesions, and a mild leukocytosis in the CSF was detected. Efficacy and rapid response to steroid therapy was observed, and no recurrences of neurological problems or further seizures were reported in the following 12 months. This case report can help in understanding FLAMES characteristics in pediatrics in order to favor early diagnosis and prompt therapy.
RESUMO
Unilateral absence of a parotid gland at the expected location is an extremely rare condition with only a few cases reported in the medical literature and, to our knowledge, never previously described in association with CHARGE syndrome (Coloboma of the eye, Heart defects, Atresia of the choanae, Retardation of growth and/or development, Genital and/or urinary abnormalities, and Ear abnormalities and deafness). Although this entity is usually associated with a complex constellation of anomalies, additional findings have been described, including cranial nerve dysfunction (VII, VIII, IX and X). We present a case that illustrates the association of CHARGE syndrome with absence of parotid gland at normal location with ectopic parotid tissue lateral to masseter muscle, incidentally detected on brain MRI and subsequently confirmed on neck MRI.
Assuntos
Coristoma/patologia , Doenças Maxilomandibulares/patologia , Imageamento por Ressonância Magnética/métodos , Glândula Parótida , Doenças Genéticas Ligadas ao Cromossomo X , Perda Auditiva Condutiva , Humanos , Achados Incidentais , Recém-Nascido , Deformidades Congênitas dos Membros , Masculino , Anormalidades MaxilofaciaisRESUMO
We report the case of a boy (aged 3 years and 7 months) with severe growth failure (length: -9.53 SDS; weight: -9.36 SDS), microcephaly, intellectual disability, distinctive craniofacial features, multiple skeletal anomalies, micropenis, cryptorchidism, generalized hypotonia, and tendon retraction. Abdominal US showed bilateral increased echogenicity of the kidneys, with poor corticomedullary differentiation, and a slightly enlarged liver with diffuse irregular echotexture. Initial MRI of the brain, performed at presentation, showed areas of gliosis with encephalomalacia and diffused hypo/delayed myelination, and a thinned appearance of the middle and anterior cerebral arteries. Genetic analysis evidenced a novel homozygous pathogenic variant of the pericentrin (PCNT) gene. PCNT is a structural protein expressed in the centrosome that plays a role in anchoring of protein complexes, regulation of the mitotic cycle, and cell proliferation. Loss-of-function variants of this gene are responsible for microcephalic osteodysplastic primordial dwarfism type II (MOPDII), a rare inherited autosomal recessive disorder. The boy died at 8 years of age as a result of an intracranial hemorrhage due to a cerebral aneurism associated with the Moyamoya malformation. In confirmation of previously published results, intracranial anomalies and kidney findings were evidenced very early in life. For this reason, we suggest including MRI of the brain with angiography as soon as possible after diagnosis in follow-up of MODPII, in order to identify and prevent complications related to vascular anomalies and multiorgan failure.
Assuntos
Aneurisma Intracraniano , Nefropatias , Microcefalia , Masculino , Humanos , Criança , Microcefalia/complicações , Microcefalia/genética , Microcefalia/diagnóstico , Aneurisma Intracraniano/complicações , Rim , MutaçãoRESUMO
BACKGROUND: Agenesis of the corpus callosum is associated with several malformations of cortical development. Recently, features of focal cortical dysgyria have been described in fetuses with agenesis of the corpus callosum. OBJECTIVE: This study aimed to describe the "cortical invagination sign," a specific sonographic feature of focal cortical dysgyria, which is consistently seen at midtrimester axial brain ultrasound in fetuses with complete agenesis of the corpus callosum. STUDY DESIGN: This was a retrospective analysis of prospectively collected data from 2018 to 2021, including patients referred to 5 fetal medicine centers in the second trimester of pregnancy (19 0/7 to 22 0/7 weeks of gestation) with suspected complete agenesis of the corpus callosum. All cases with the diagnosis of complete agenesis of the corpus callosum were submitted to an axial sonographic assessment of the fetal brain on the transventricular plane. In this scanning section, the mesial profile of both cerebral hemispheres at the level of the frontal-parietal cortex was investigated. In this area, the operator looked for an abnormal invagination of the cortical surface along the widened interhemispheric fissure, which was referred to as the "cortical invagination sign." All fetuses were submitted to dedicated antenatal magnetic resonance imaging to reassess the ultrasound findings. Cases with additional brain anomalies, which did not involve the cortex, were excluded. The final diagnosis was confirmed at postnatal brain magnetic resonance imaging or postmortem examination, for cases undergoing termination of pregnancy. The primary outcome of this study was to evaluate the presence and laterality of the "cortical invagination sign" in fetuses with complete agenesis of the corpus callosum at antenatal ultrasound and magnetic resonance imaging. RESULTS: During the study period, 64 cases of complete agenesis of the corpus callosum were included; of those cases, 50 (78.1%) resulted in termination of pregnancy, and 14 (21.9%) resulted in a live birth. The "cortical invagination sign" was detected at ultrasound in 13 of 64 cases (20.3%) and at targeted brain magnetic resonance imaging in 2 additional cases (23.4%), all of which were electively terminated. Moreover, the "cortical invagination sign" was found to be exclusively unilateral and on the left cerebral hemisphere in all the cases. There was a predominant number, although nonsignificant, of male fetuses (80.0% of cases; P=.06) in the group of complete agenesis of the corpus callosum with the "cortical invagination sign." CONCLUSION: The "cortical invagination sign" is a specific marker of focal cortical dysgyria, which seems to characterize at midtrimester of pregnancy in a large group of fetuses with complete agenesis of the corpus callosum. The etiology, pathophysiology, and prognostic significance of this finding remain to be elucidated.
Assuntos
Agenesia do Corpo Caloso , Corpo Caloso , Gravidez , Humanos , Masculino , Feminino , Corpo Caloso/diagnóstico por imagem , Corpo Caloso/patologia , Segundo Trimestre da Gravidez , Agenesia do Corpo Caloso/diagnóstico por imagem , Agenesia do Corpo Caloso/patologia , Diagnóstico Pré-Natal , Estudos Retrospectivos , Ultrassonografia Pré-Natal/métodos , Idade Gestacional , FetoRESUMO
The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.Lys2227SerfsTer2) in USP9X, which was present in a mosaic state in the amniocytes and in the peripheral blood after birth (14% and 30%, respectively). The X methylation status analysis displayed a partially skewed X-inactivation with 80% of inactive paternal X. The first signs of the MRXS99F were prenatally detected at 20 weeks, with an enlarged posterior cranial fossa, an upward rotation of the cerebellar vermis and partial corpus callosum agenesis, together with a cardiac septal defect and a single umbilical artery. After birth and during postnatal follow-up the anal anteriorization and the presence of a bilateral membranous choanal atresia were noted, whereas the MRI revealed the hypo/aplasia of the olfactory bulbs, a widening of the subarachnoid spaces and a delay in the myelinisation. During the 18-months follow-up a severe growth and global developmental delay, together with a bilateral moderate deafness with a threshold at 40 dB, dental enamel erosions and an initial scoliosis were observed. We report the prenatal and postnatal features of a classical MRXS99F phenotype and a mosaic USP9X frameshift variant with a partially skewed X inactivation and discuss genotype/phenotype correlations in view of the published studies so far.
Assuntos
Agenesia do Corpo Caloso , Atresia das Cóanas , Feminino , Humanos , Gravidez , Agenesia do Corpo Caloso/genética , Mutação da Fase de Leitura , Fenótipo , Síndrome , Ubiquitina Tiolesterase/genéticaRESUMO
Duplication of the pituitary gland (DPG)-plus syndrome is a very rare developmental disorder with few cases described in the literature and characterized by multiple midline and central nervous system malformations. The hypothalamus and hypophysis involvement may be clinically associated with endocrine abnormalities. A 5.9-year-old female child was admitted to our Clinic for premature thelarche and acceleration of growth. DPG-plus syndrome with paired infundibula and pituitary glands was diagnosed after birth, when she appeared small for gestational age and she presented with lingual hypoplasia, cleft palate, right choanal stenosis, nasopharyngeal teratoma, and facial dysmorphisms. Neuroimaging revealed a duplication of the infundibula, the pituitary gland, and the dens of the epistropheus despite surgical removal of a rhino-pharyngeal mass performed at the age of two months. An array-CGH revealed a 2p12 deletion. At our evaluation, bone age assessment resulted advanced and initial pubertal activation was confirmed by Gonadotropin-Releasing Hormone stimulation test. Hormonal suppression treatment was started with satisfactory results. This case shows that DPG-plus syndrome must be considered in presence of midline and craniofacial malformations and endocrinological evaluations should be performed for the prompt and appropriate management of pubertal anomalies.
Assuntos
Anormalidades Múltiplas , Anormalidades Craniofaciais , Doenças da Hipófise , Puberdade Precoce , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/tratamento farmacológico , Anormalidades Múltiplas/cirurgia , Criança , Anormalidades Craniofaciais/diagnóstico por imagem , Anormalidades Craniofaciais/tratamento farmacológico , Anormalidades Craniofaciais/cirurgia , Feminino , Humanos , Imageamento por Ressonância Magnética , Doenças da Hipófise/diagnóstico por imagem , Doenças da Hipófise/tratamento farmacológico , Doenças da Hipófise/cirurgia , Hipófise/anormalidades , Hipófise/diagnóstico por imagem , Puberdade Precoce/diagnóstico por imagem , Puberdade Precoce/tratamento farmacológico , Puberdade Precoce/cirurgia , Síndrome , Tomografia Computadorizada por Raios X , Pamoato de Triptorrelina/uso terapêuticoRESUMO
OBJECTIVE: The aim of this study was to report the rate of additional anomalies detected exclusively at prenatal magnetic resonance imaging (MRI) in fetuses with isolated severe ventriculomegaly undergoing neurosonography. METHOD: Multicenter, retrospective, cohort study involving 20 referral fetal medicine centers in Italy, United Kingdom, Spain and Denmark. Inclusion criteria were fetuses affected by isolated severe ventriculomegaly (≥15 mm), defined as ventriculomegaly with normal karyotype and no other additional central nervous system (CNS) and extra-CNS anomalies on ultrasound. In all cases, a multiplanar assessment of fetal brain as suggested by ISUOG guidelines on fetal neurosonography had been performed. The primary outcome was the rate of additional CNS anomalies detected exclusively at fetal MRI within two weeks from neurosonography. Subgroup analyses according to gestational age at MRI (Assuntos
Hidrocefalia
, Ultrassonografia Pré-Natal
, Estudos de Coortes
, Feminino
, Feto
, Humanos
, Hidrocefalia/diagnóstico por imagem
, Imageamento por Ressonância Magnética
, Gravidez
, Diagnóstico Pré-Natal
, Estudos Retrospectivos
RESUMO
We describe a case of a 47-year-old Italian, immunocompromised, and obese woman infected by COVID-19 presenting with fever (39.6 °C) and respiratory symptoms. Neurological examination was normal. Chest CT findings consist of bilateral interstitial pneumonia (visual score extension: 30%). The patient was treated with antiviral drugs and anti-inflammatory drugs with supportive care. Seven days after admission to Covid-19 Unit, the patient rapidly developed worsening respiratory failure and acute respiratory distress syndrome (ARDS). She suddenly developed partial left hemispheric syndrome. A new HRCT scan of her thorax revealed diffuse ground-glass opacities in both lungs (visual score extension: 90%). Brain CT performed 2 h after sudden-onset left-sided weakness showed subtle low attenuation within the right insular ribbon and frontal lobe (ASPECT Score 8). Multiphasic CT angiography (MCTA) demonstrated occlusion of both the dominant inferior division of the right middle cerebral artery and the A2 segment of the right anterior cerebral artery. After 24 h, her pupils became dilated and unreactive, and brain CT demonstrated large bilateral infarctions of both the cerebellar and cerebral hemispheres. She had a rapid progression of interstitial pneumonia from COVID-19, developed multiple strokes, and died 1 day later. SARS-CoV-2 infection seems to predispose pluripathological subjects to cerebrovascular complications.
Assuntos
Braço , Síndromes Compartimentais/etiologia , Acidente Vascular Cerebral/complicações , Síndromes Compartimentais/diagnóstico , Diagnóstico Diferencial , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Acidente Vascular Cerebral/diagnóstico , Ultrassonografia DopplerRESUMO
Transient Cerebral Arteriopathy (TCA) is one of the main causes of childhood stroke. Here we present an unusual case of Arterial Ischemic Stroke (AIS) caused by a TCA of posterior flow and originally located in the right thalamus. The detection of enterovirus in the cerebrospinal fluid allowed us to suppose a probable post infectious etiology. The course of symptoms was self-limited and the child had a complete clinical recovery after five days. A new ischemic lesion on the antero-inferior paravermian region of the left cerebellum was revealed by a following brain Magnetic Resonance Imaging (MRI) three months later and these findings were reported by further brain MRI control performed after 15â¯months. Comparing follow up Magnetic Resonance Angiography (MRA) with previous High Resolution Vessel Wall Magnetic Resonance Imaging (HRMI), we found a vessel narrowing at the level of the Posterior Inferior Cerebellar Artery that might explain the arteriopathy process. In conclusion, clinical and radiological course allow us to speculate that this multifocal cerebral arteriopathy might be a transient lesion due to enterovirus infection. To our knowledge, there are only three articles describing TCA enterovirus-related, and brain MRA was performed in only one case; in addition, no one with the involvement of the posterior circulation.
Assuntos
Isquemia Encefálica/virologia , Doenças Arteriais Cerebrais/virologia , Infecções por Enterovirus/complicações , Artéria Cerebral Posterior/diagnóstico por imagem , Acidente Vascular Cerebral/virologia , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Encéfalo/virologia , Isquemia Encefálica/diagnóstico por imagem , Doenças Arteriais Cerebrais/diagnóstico por imagem , Pré-Escolar , Humanos , Imageamento por Ressonância Magnética , Masculino , Acidente Vascular Cerebral/diagnóstico por imagemRESUMO
We report a 9-year-old boy, with childhood cerebral X-linked adrenoleukodystrophy (CCALD), presenting with an episode of loss of consciousness, fixed gaze, hypotonia and vomit with spontaneous resolution and post-ictal sleep. Behavioural impairment has been observed since the previous five months. Magnetic Resonance Images (MRI) revealed isolated bilateral, symmetric, confluent temporal white matter lesions involving also corticospinal tracts, with sparing of the parieto-occipital and frontal white matter. This report outlines an atypical neuroradiological localization of X-linked adrenoleukodystrophy and neuropsychological findings not specifically related to the brain involvement seen at the MRI.
Assuntos
Adrenoleucodistrofia/complicações , Córtex Cerebral/patologia , Transtornos da Consciência/etiologia , Adrenoleucodistrofia/diagnóstico por imagem , Córtex Cerebral/diagnóstico por imagem , Criança , Corpo Caloso/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Exame Neurológico , Tratos Piramidais/diagnóstico por imagem , Substância Branca/diagnóstico por imagemRESUMO
OBJECTIVE: To evaluate and compare histogram features (mean lung attenuation, skewness, kurtosis) of low-dose and standard-dose CT in a group of patients affected by idiopathic interstitial pneumonitis. METHODS: We analyzed 16 patients affected by idiopathic interstitial pneumonitis. Spiral whole lung thin-section CT acquisition at standard dose (100 mAs) and three additional low-dose (50 mAs) CT images were obtained. After obtained frequency histograms, mean lung attenuation (MLA), skewness and kurtosis and three range of density (-700/-200 HU; -700/-400 HU; -500/-200 HU) of the standard-and low-dose thin-section CT scans were analyzed and compared. RESULTS: The parameters obtained with low-dose and standard-dose spiral CT were correlated in a highly significant manner and were equivalent (p<0.01). The greatest correlation was found between standard-and low-dose kurtosis and standard and low-dose -700/-400 HU subrange of density (r=0.92; p<0.0001). CONCLUSIONS: Our results prove that a quantitative CT objective evaluation in lung fibrosis can be successfully obtained with low-dose spiral CT, with reduced mA.
Assuntos
Fibrose Pulmonar/diagnóstico por imagem , Intensificação de Imagem Radiográfica , Interpretação de Imagem Radiográfica Assistida por Computador/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Feminino , Humanos , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Doses de Radiação , Intensificação de Imagem Radiográfica/métodos , Reprodutibilidade dos Testes , Sensibilidade e Especificidade , Índice de Gravidade de DoençaRESUMO
The chest radiograph remains the first imaging modality for the approach to diffuse infiltrative lung disease (DILD), but, 23 years after its introduction, high-resolution CT (HRCT) is still considered the best imaging tool for the evaluation of the pulmonary interstitium and to diagnose and assess DILD. The introduction of multidetector computed tomography (MDCT) has provided the thoracic radiologist with a powerful tool with which to image the lung. Moreover MDCT has enabled radiologists to understand better the functional information contained within CT images of DILD. By focusing on the HRCT signs, patterns, and distributions of abnormalities, and mentioning the clinical aspects and the new recent advances in pulmonary imaging, in this article we provide an overview of a practical approach to the interpretation of the DILD.
Assuntos
Doenças Pulmonares Intersticiais/diagnóstico por imagem , Tomografia Computadorizada por Raios X , Humanos , Doenças Pulmonares Intersticiais/patologia , Interpretação de Imagem Radiográfica Assistida por Computador , Tomografia Computadorizada por Raios X/métodosRESUMO
OBJECTIVE: A double internal auditory canal (IAC) is an uncommon malformation among temporal bone anomalies related to sensorineural hearing loss. This anomaly has been described as an isolated finding in otherwise normal patients, as well as a frequent feature in pontine tegmental cap dysplasia (PTCD). In both circumstances, the term duplication is currently used to describe this malformation. We conducted a retrospective study on 3 cases of IAC duplication (2 isolated and 1 PTCD-associated form) and reviewed the literature to evaluate both imaging features and differences between the 2 forms. INTERVENTION(S): All 3 patients underwent high-resolution computed tomography and magnetic resonance imaging. RESULTS: Neuroimaging documented different radiologic features between isolated and PTCD-associated IAC duplication. In the isolated form, the IAC seemed to have normal position and size, but it was partitioned in 2 portions by a complete or incomplete bony septum. Conversely, in the PTCD-associated form, neuroimaging revealed the presence of 2 separated and anomalously coursing canals for the facial and vestibulocochlear nerve. CONCLUSION: The aforementioned different radiologic findings probably reflect a more complex spectrum of etiopathogenetic mechanisms affecting the facioacoustic primordium and leading to overlapping anomalies of the IAC. We speculate on the appropriate terminology in describing this entity and propose that "partition" should be used to describe a double IAC otherwise normal in size and location; conversely, "duplication" should be reserved for IAC anomalies encountered in patients with PTCD or other hindbrain malformations.
Assuntos
Meato Acústico Externo/anormalidades , Orelha Interna/anormalidades , Perda Auditiva Neurossensorial/congênito , Osso Temporal/anormalidades , Criança , Meato Acústico Externo/diagnóstico por imagem , Meato Acústico Externo/patologia , Orelha Interna/diagnóstico por imagem , Orelha Interna/patologia , Feminino , Perda Auditiva Neurossensorial/diagnóstico por imagem , Perda Auditiva Neurossensorial/patologia , Humanos , Lactente , Imageamento por Ressonância Magnética , Radiografia , Estudos Retrospectivos , Osso Temporal/diagnóstico por imagem , Osso Temporal/patologiaRESUMO
Congenital absence of the internal carotid artery (ICA) is an extremely rare vascular anomaly. Aplasia and displacement of the horizontal portion of the petrous carotid artery have been described in a patient with mandibulofacial dysostosis. To the best of our knowledge, the association between Goldenhar syndrome and ipsilateral ICA agenesis has emerged only in one case documented in the medical literature to date. We describe here a case that illustrates the association of Goldenhar syndrome with contralateral agenesis of the ICA incidentally detected on brain magnetic resonance imaging and subsequently confirmed on magnetic resonance angiography and high resolution computed tomography.
Assuntos
Artéria Carótida Interna/anormalidades , Artéria Carótida Interna/diagnóstico por imagem , Síndrome de Goldenhar/diagnóstico por imagem , Síndrome de Goldenhar/patologia , Criança , Feminino , Humanos , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Tomografia Computadorizada por Raios XRESUMO
OBJECTIVE: The aim of this study was to report on auditory performance after cochlear implantation in children with cochlear nerve deficiency. METHODS: A retrospective case review was performed. Five patients with pre-lingual profound sensorineural hearing loss implanted in an ear with cochlear nerve deficiency participated in the study. Postoperative auditory and speech performance was assessed using warble tone average threshold with cochlear implant, speech perception categories, and speech intelligibility ratings. All patients underwent high resolution computed tomography and magnetic resonance imaging. RESULTS: According to Govaerts classification, three children had a type IIb and two a type IIa cochlear nerve deficiency. Preoperatively, four patients were placed into speech perception category 1 and one into category 2. All patients had an improvement in hearing threshold with the cochlear implant. Despite this, at the last follow-up (range 18-81 months, average 45 months), only one girl benefited from cochlear implantation; she moved from speech perception category 2 to 6 and developed spoken language. Another child developed closed set speech perception and had connected speech that was unintelligible. The other 3 children showed little benefit from the cochlear implant and obtained only an improved access to environmental sounds and improved lipreading skills. None of these 4 children developed a spoken language, but they were all full-time users of their implants. CONCLUSIONS: The outcomes of cochlear implantation in these five children with cochlear nerve deficiency are extremely variable, ranging from sporadic cases in which open set speech perception and acquisition of a spoken language are achieved, to most cases in which only an improved access to environmental sound develops. Regardless of these limited outcomes, all patients in our series use their device on a daily basis and derive benefits in everyday life. In our opinion, cochlear implantation can be a viable option in children with cochlear nerve deficiency, but careful counseling to the family on possible restricted benefit is needed.
Assuntos
Implante Coclear/métodos , Nervo Coclear/anormalidades , Perda Auditiva Neurossensorial/cirurgia , Audição/fisiologia , Inteligibilidade da Fala/fisiologia , Percepção da Fala/fisiologia , Doenças do Nervo Vestibulococlear/cirurgia , Criança , Pré-Escolar , Feminino , Perda Auditiva Neurossensorial/fisiopatologia , Testes Auditivos , Humanos , Lactente , Imageamento por Ressonância Magnética , Masculino , Estudos Retrospectivos , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Doenças do Nervo Vestibulococlear/fisiopatologiaRESUMO
Cerebellopontine angle (CPA) lipomas are extremely rare lesions and usually unilateral. We describe a case of a 36-year-old man with bilateral aural fullness that was discovered to have bilateral CPA lipomas associated with an abnormal hindbrain segmentation appearance. The patient was evaluated with 3.0T magnetic resonance imaging (MRI) system. MRI demonstrated the presence of bilateral CPA masses partially extending into the internal auditory canals. These lesions were hyperintense on both T1- and T2 weighted images. Facial and vestibulo-cochlear nerves together with tortuous vascular structures and fibro-connective septa were identified on T2-weighted 3D Fast Imaging Employing Steady-state Acquisition (FIESTA) sequences as areas of lower intensity coursing through the masses. Gadolinium administration yielded no enhancement. Conservative management was adopted.