RESUMEN
BACKGROUND AND PURPOSE: Zhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem malformation disorder characterized by developmental delay and a diverse array of congenital abnormalities. However, these currently identified phenotypic components provide limited guidance in diagnostic situations, due to both the nonspecificity and variability of these features. Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia. MATERIALS AND METHODS: Individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome were recruited from 2 sources, a high-throughput sequencing study of individuals with periventricular nodular heterotopia or from clinical diagnostic sequencing studies. We analyzed available brain MR images of recruited individuals to characterize periventricular nodular heterotopia distribution and to identify the presence of any additional brain abnormalities. RESULTS: Pathogenic variants in SON, causative of Zhu-Tokita-Takenouchi-Kim syndrome, were identified in 7 individuals. Brain MR images from these individuals were re-analyzed. A characteristic set of imaging anomalies in addition to periventricular nodular heterotopia was identified, including the elongation of the pituitary stalk, cerebellar enlargement with an abnormally shaped posterior fossa, rounding of the caudate nuclei, hippocampal malformations, and cortical anomalies including polymicrogyria or dysgyria. CONCLUSIONS: The recurrent neuroradiologic changes identified here represent an opportunity to guide diagnostic formulation of Zhu-Tokita-Takenouchi-Kim syndrome on the basis of brain MR imaging evaluation.
Asunto(s)
Encefalopatías , Discapacidad Intelectual , Heterotopia Nodular Periventricular , Humanos , Encéfalo/patología , Imagen por Resonancia Magnética , Encefalopatías/patología , Discapacidad Intelectual/patologíaRESUMEN
BACKGROUND AND PURPOSE: Polymicrogyria and lissencephaly may be associated with abnormal organization of the undelying white matter tracts that have been rarely investigated so far. Our aim was to characterize white matter tract organization in polymicrogyria and lissencephaly using constrained spherical deconvolution, a multifiber diffusion MR imaging modeling technique for white matter tractography reconstruction. MATERIALS AND METHODS: We retrospectively reviewed 50 patients (mean age, 8.3 ± 5.4 years; range, 1.4-21.2 years; 27 males) with different polymicrogyria (n = 42) and lissencephaly (n = 8) subtypes. The fiber direction-encoded color maps and 6 different white matter tracts reconstructed from each patient were visually compared with corresponding images reconstructed from 7 age-matched, healthy control WM templates. Each white matter tract was assessed by 2 experienced pediatric neuroradiologists and scored in consensus on the basis of the severity of the structural abnormality, ranging from the white matter tracts being absent to thickened. The results were summarized by different polymicrogyria and lissencephaly subgroups. RESULTS: More abnormal-appearing white matter tracts were identified in patients with lissencephaly compared with those with polymicrogyria (79.2% versus 37.3%). In lissencephaly, structural abnormalities were identified in all studied white matter tracts. In polymicrogyria, the more frequently affected white matter tracts were the cingulum, superior longitudinal fasciculus, inferior longitudinal fasciculus, and optic radiation-posterior corona radiata. The severity of superior longitudinal fasciculus and cingulum abnormalities was associated with the polymicrogyria distribution and extent. A thickened superior fronto-occipital fasciculus was demonstrated in 3 patients. CONCLUSIONS: We demonstrated a range of white matter tract structural abnormalities in patients with polymicrogyria and lissencephaly. The patterns of white matter tract involvement are related to polymicrogyria and lissencephaly subgroups, distribution, and, possibly, their underlying etiologies.
Asunto(s)
Encéfalo/diagnóstico por imagen , Imagen de Difusión Tensora/métodos , Lisencefalia/diagnóstico por imagen , Polimicrogiria/diagnóstico por imagen , Sustancia Blanca/diagnóstico por imagen , Adolescente , Encéfalo/patología , Niño , Preescolar , Femenino , Humanos , Lactante , Lisencefalia/diagnóstico , Lisencefalia/patología , Masculino , Polimicrogiria/patología , Estudios Retrospectivos , Sustancia Blanca/patología , Adulto JovenRESUMEN
Thanatophoric dysplasia, achondroplasia, and hypochondroplasia belong to the fibroblast growth factor receptor 3 (FGFR3) group of genetic skeletal disorders. Temporal lobe abnormalities have been documented in thanatophoric dysplasia and hypochondroplasia, and in 1 case of achondroplasia. We retrospectively identified 13 children with achondroplasia who underwent MR imaging of the brain between 2002 and 2015. All children demonstrated a deep transverse temporal sulcus on MR imaging. Further common neuroimaging findings were incomplete hippocampal rotation (12 children), oversulcation of the mesial temporal lobe (11 children), loss of gray-white matter differentiation of the mesial temporal lobe (5 children), and a triangular shape of the temporal horn (6 children). These appearances are very similar to those described in hypochondroplasia, strengthening the association of temporal lobe malformations in FGFR3-associated skeletal dysplasias.
Asunto(s)
Acondroplasia/patología , Lóbulo Temporal/anomalías , Acondroplasia/diagnóstico por imagen , Acondroplasia/genética , Niño , Femenino , Humanos , Imagen por Resonancia Magnética , Masculino , Mutación , Neuroimagen , Fenotipo , Receptor Tipo 3 de Factor de Crecimiento de Fibroblastos/genética , Estudios Retrospectivos , Lóbulo Temporal/diagnóstico por imagenRESUMEN
BACKGROUND AND PURPOSE: Bilateral posterior PNH is a distinctive complex malformation with imaging features distinguishing it from classic bilateral PNH associated with FLNA mutations. The purpose of this study was to define the imaging features of posterior bilateral periventricular nodular heterotopia and to determine whether associated brain malformations suggest specific subcategories. MATERIALS AND METHODS: We identified a cohort of 50 patients (31 females; mean age, 13 years) with bilateral posterior PNH and systematically reviewed and documented associated MR imaging abnormalities. Patients were negative for mutations of FLNA. RESULTS: Nodules were often noncontiguous (n = 28) and asymmetric (n = 31). All except 1 patient showed associated developmental brain abnormalities involving a spectrum of posterior structures. A range of posterior fossa abnormalities affected the cerebellum, including cerebellar malformations and posterior fossa cysts (n = 38). Corpus callosum abnormalities (n = 40) ranged from mild dysplasia to agenesis. Posterior white matter volume was decreased (n = 22), and colpocephaly was frequent (n = 26). Most (n = 40) had associated cortical abnormalities ranging from minor to major (polymicrogyria), typically located in the cortex overlying the PNH. Abnormal Sylvian fissure morphology was common (n = 27), and hippocampal abnormalities were frequent (n = 37). Four family cases were identified-2 with concordant malformation patterns and 2 with discordant malformation patterns. CONCLUSIONS: The associations of bilateral posterior PNH encompass a range of abnormalities involving brain structures inferior to the Sylvian fissures. We were unable to identify specific subgroups and therefore conceptualize bilateral posterior PNH as a continuum of infrasylvian malformations involving the posterior cerebral and hindbrain structures.
Asunto(s)
Encefalopatías/patología , Ventrículos Laterales/anomalías , Imagen por Resonancia Magnética , Malformaciones del Desarrollo Cortical/patología , Heterotopia Nodular Periventricular/patología , Adolescente , Adulto , Anciano , Corteza Cerebral/anomalías , Niño , Preescolar , Estudios de Cohortes , Proteínas Contráctiles/genética , Cuerpo Calloso/patología , Femenino , Enfermedades Fetales/genética , Enfermedades Fetales/patología , Filaminas , Hipocampo/anomalías , Humanos , Lactante , Recién Nacido , Ventrículos Laterales/patología , Masculino , Proteínas de Microfilamentos/genética , Persona de Mediana Edad , Heterotopia Nodular Periventricular/genética , Embarazo , Rombencéfalo/anomalías , Hermanos , Gemelos Monocigóticos , Adulto JovenRESUMEN
This review addresses the complex and often controversial anatomy of the anterior bundle of the OR, also known as the Meyer loop. Before the advent of MR imaging, 2 main types of studies attempted to ascertain the "safe" distance for anterior temporal lobe resection to avoid postsurgical VFDs. There were those based first on postoperative VFD correlation and second on anatomic dissection studies. In the past decade, noninvasive diffusion MR imaging-based tractography techniques have been developed in an attempt to elucidate white matter connectivity. Although many of these techniques are still experimental, there are some clinical situations for which they may prove to be very helpful if properly performed and validated. The motivation for this review was to improve the outcome of patients with TLE undergoing temporal lobectomy: Would having anatomic information about the OR available to the neurosurgeon decrease the risk of postsurgical VFDs?
Asunto(s)
Imagen de Difusión Tensora/métodos , Cuerpos Geniculados/anatomía & histología , Aumento de la Imagen/métodos , Fibras Nerviosas Mielínicas/ultraestructura , Lóbulo Occipital/anatomía & histología , Vías Visuales/anatomía & histología , HumanosRESUMEN
This case of Menkes disease presented with the uncommon association of bilateral inguinal hernias at the age of 4 months. Further investigation demonstrated classical skeletal and neurological changes of this rare neurodegenerative disorder.
Asunto(s)
Hernia Inguinal/etiología , Síndrome del Pelo Ensortijado/complicaciones , Síndrome del Pelo Ensortijado/diagnóstico , Diagnóstico Diferencial , Diagnóstico por Imagen , Humanos , Lactante , MasculinoRESUMEN
AIM: To compare the effectiveness of radiological skeletal survey and bone scintigraphy for the detection of bony injuries in cases of suspected child abuse. METHODS: All cases with a discharge diagnosis of child abuse that presented to the Royal Children's Hospital between 1989 and 1998 were retrieved, and those children that had undergone both skeletal survey and bone scintigraphy (radioisotope bone scan) within a 48 hour period were included in this study. Both examinations followed rigid departmental protocols and protocols remained identical throughout the timeframe of the study. The reports of the skeletal surveys and bone scans were retrospectively reviewed by a paediatric radiology fellow and consultant paediatric radiologist. RESULTS: The total number of bony injuries identified was 124 in 30 children. Of these, 64 were identified on bone scan and 77 on skeletal survey. Rib fractures represented 60/124 (48%) of the bony injuries and were present in 16/30 children (53%), of which 62.5% had multiple rib fractures. Excluding rib fractures, there were 64 (52%) bony injuries, of which 33% were seen on both imaging modalities, 44% were seen on skeletal survey only, and 25% were seen on bone scans alone. Metaphyseal lesions typical of child abuse were present in 20 cases (31%) on skeletal survey; only 35% of these were identified on bone scan. Six children (20%) had normal skeletal surveys, with abnormalities shown on bone scan. There were three children (10%) with normal bone scans who were shown to have injuries radiographically. CONCLUSIONS: Skeletal survey and bone scintigraphy are complementary studies in the evaluation of non-accidental injury, and should both be performed in cases of suspected child abuse.
Asunto(s)
Huesos/lesiones , Maltrato a los Niños/diagnóstico , Fracturas Óseas/diagnóstico por imagen , Traumatismos del Brazo/diagnóstico por imagen , Huesos/diagnóstico por imagen , Preescolar , Humanos , Lactante , Traumatismos de la Pierna/diagnóstico por imagen , Traumatismo Múltiple/diagnóstico por imagen , Pelvis/lesiones , Radiografía , Cintigrafía , Estudios Retrospectivos , Fracturas de las Costillas/diagnóstico por imagen , Cráneo/lesionesRESUMEN
A history is presented of measurements of solar vacuum uv and soft x radiation made by rocket and satellite-borne instruments in the U.S.S.R. The origin and mechanism of the production of solar x rays are discussed.