ABSTRACT
Mega cistera magna (MCM) is a brain development abnormality that occurs in 1% of radiographic images. It occurs when the transverse dimension of the cerebellospinal reservoir is greater than 10 mm. It is the most important reservoir in the cranial cavity. From the front it is limited by the extended medulla, from the rear by the dura mater, and from the top by the cerebellum. Isolated anomalies in the structure of this brain region often do not cause any clinical symptoms. However, more and more attention is paid in research on the participation of the cerebellum in the regulation of cognitive and affective processes. These processes, in turn, may also be related to the regulation of sexual life. The aim of the study is to present the psychosexual functioning of a man diagnosed with MCM, who is suspected of having committed five sexual offenses. The existence of such a structure of the CNS in conjunction with the analysis of the interview, data from the case files and the results of sexological, psychological and psychiatric examinations, made it possible to evaluate the limitation of the respondent's ability to direct his conduct during the alleged acts, while maintaining the ability to recognize their significance.
Subject(s)
Brain Diseases , Cisterna Magna , Male , Humans , Cisterna Magna/diagnostic imaging , Cisterna Magna/abnormalitiesABSTRACT
Solitary median maxillary central incisor syndrome (SMMCI) is a rare congenital oronasal-dental midline anomaly. The aim of this paper is a presentation of a patient with SMMCI without other visible dentofacial anomalies, with a potentially new molecular etiology consisting of a gene-gene reaction and conservative therapeutic approach to nasal obstruction. Potentially pathogenic variants in the SMO gene (p.Gly422Glu) and in P2RY13 gene (p.Trp205*) inherited from the probant's father, and in the PLD2 gene (p.Gln319fs), inherited from the mother were found. A multidisciplinary approach is necessary for the management of patients with SMMCI, including a genetic consultation with genetic tests.
Subject(s)
Anodontia/genetics , Choanal Atresia/genetics , Incisor/abnormalities , Phospholipase D/genetics , Receptors, Purinergic P2/genetics , Smoothened Receptor/genetics , Anodontia/diagnosis , Choanal Atresia/diagnostic imaging , Choanal Atresia/surgery , Cisterna Magna/abnormalities , Cisterna Magna/diagnostic imaging , Hedgehog Proteins/genetics , Heterozygote , Humans , Imaging, Three-Dimensional , Infant, Newborn , Male , Palate, Hard/abnormalities , Phenotype , Signal Transduction , Tomography, X-Ray ComputedABSTRACT
The objective of this study was to test three measurements: brain stem (BS), intracranial translucency (IT) and brain stem to occipital bone distance (BSOB), as well as one landmark: cisterna magna (CM) visibility, for early diagnosis of open spina bifida (OSB) in a low risk population. A prospective observational study was undertaken in a university hospital. A sample of 1479 women consented to participate between 20 September 2013 and 30 June 2015. Measurements were performed from the mid-sagittal view, as is routinely used for nuchal thickness assessment. CM visibility was assessed qualitatively as the third anechoic band in the posterior cranial fossa (PCF). All pregnancies were screened with a combination of maternal serum alpha-fetoprotein and second trimester anomaly scan and followed until delivery. Predictive values were calculated for each marker. We were able to diagnose two OSB cases and highly suspect one Dandy-Walker malformation case at the first trimester scan by the observation of PCF. PCF characteristics of OSB cases were increased BS diameter, increased BS-BSOB ratio and non-visualization of the CM. All the markers demonstrated high sensitivity and specificity but CM visibility reached the highest positive predictive value. Due to relatively high false positive rates, PCF measurements could not reach a satisfactory performance to validate their clinical use as a single marker. CM visibility has the advantage of being a qualitative marker and reduces the need for sophisticated and time-consuming measurements. Intracranial translucency and BS-BSOB ratio measurements should be used when the CM visibility is absent or in doubt.
Subject(s)
Brain Stem/diagnostic imaging , Cisterna Magna/diagnostic imaging , Cranial Fossa, Posterior/diagnostic imaging , Occipital Bone/diagnostic imaging , Spina Bifida Cystica/pathology , Adolescent , Adult , Biomarkers/blood , Brain Stem/abnormalities , Cisterna Magna/abnormalities , Cranial Fossa, Posterior/pathology , Female , Gestational Age , Humans , Middle Aged , Nuchal Translucency Measurement , Occipital Bone/pathology , Pregnancy , Pregnancy Trimester, First , Pregnancy Trimester, Second , Prospective Studies , Spina Bifida Cystica/diagnostic imaging , Ultrasonography, Prenatal , alpha-Fetoproteins/metabolismABSTRACT
Introducción. El síndrome de Ritscher-Schinzel (también conocido como displasia cráneo-cerebelo-cardíaca o síndrome 3C) es un síndrome genético raro que se caracteriza principalmente por la asociación de anomalías cardíacas, craneofaciales y de la fosa posterior. Pacientes y métodos. Se describen 26 pacientes con síndrome de Ritscher-Schinzel pertenecientes a un hospital de Medellín en el departamento de Antioquia, Colombia. Resultados. La presente cohorte está compuesta en un 69% por hombres. La mediana de edad de la cohorte fue de 30 meses y el 42% tenía menos de 1 año de edad en el momento del diagnóstico. Todos presentaban afectación ocular, y la megalocórnea fue la manifestación ocular más frecuente (69%), mientras que las orejas de implantación baja (80,7%) y los defectos cardíacos septales (68,7%) fueron las malformaciones faciales y cardíacas más comunes, respectivamente. Las malformaciones de la fosa posterior más frecuentes fueron megacisterna magna (31,8%) y malformación de Dandy-Walker (27%). El 84% tenía retraso del neurodesarrollo o discapacidad intelectual. Las manifestaciones esqueléticas fueron frecuentes: el conjunto de camptodactilia, pliegue palmar único, dedos sobrelapados, astrágalo vertical e hipoplasia ungueal en las manos y los pies se halló en el 96% de los casos. Conclusiones. El síndrome de Ritscher-Schinzel es heterogéneo desde el punto de vista genético y clínico. Estos resultados sugieren que las anormalidades esqueléticas y oculares observadas pueden facilitar el diagnóstico fenotípico. No obstante, es necesario realizar estudios adicionales que permitan conocer mejor su prevalencia y facilitar la identificación de otros genes implicados en este síndrome (AU)
Introduction. Ritscher-Schinzel syndrome (also known as cranio-cerebello-cardiac dysplasia or 3C syndrome) is a rare genetic syndrome that is mainly characterised by the association of cardiac and craniofacial anomalies together with others affecting the posterior fossa. Patients and methods. We report on 26 patients with Ritscher-Schinzel syndrome at a hospital in Medellín, in the Department of Antioquia, Colombia. Results. Males account for 69% of this cohort. The mean age of the cohort was 30 months, and 42% were under the age of one year at the time of diagnosis. All of them presented ocular disorders, and megalocornea was the most frequent ocular manifestation (69%), whereas low-set ears (80.7%) and septal heart defects (68.7%) were the most common facial and cardiac malformations, respectively. The most frequent malformations of the posterior fossa were megacisterna magna (31.8%) and Dandy-Walker malformation (27%). 84% of the cases had delayed neurodevelopment or intellectual disability. Skeletal manifestations were frequent: the group consisting of camptodactyly, single palmar crease, overlapping fingers, vertical talus and nail hypoplasia were found in hands and feet in 96% of the cases. Conclusions. Ritscher-Schinzel syndrome is a heterogeneous syndrome from the genetic and clinical point of view. These results suggest that the skeletal and ocular abnormalities that were observed can facilitate the phenotypic diagnosis. However, it is necessary to conduct further studies that allow us to gain a deeper knowledge of its prevalence and help identify other genes involved in this syndrome (AU)
Subject(s)
Humans , Male , Female , Infant , Child, Preschool , Child , Dandy-Walker Syndrome/complications , Cisterna Magna/abnormalities , Cornea/abnormalities , Heart Defects, Congenital/complications , Phenotype , Retrospective Studies , Intellectual Disability/epidemiology , Talus/abnormalities , Musculoskeletal Abnormalities/epidemiologyABSTRACT
BACKGROUND: Joubert syndrome is a very rare condition with dismal prognosis. It is characterized by several abnormalities including molar tooth sign on MRI. When coupled with mega cisterna magna- a feature of the Dandy Walker syndrome- it is categorized as Joubert plus syndrome. CASE REPORT: A 16 month old male child with Joubert syndrome was referred to the Pediatric Dentistry Department Clinic, Faculty of Dentistry Alexandria University, complaining of severe tongue and lower lip injury due to self-mutilation. He required multiple teeth extractions under general anesthesia to prevent further tongue and lip mutilation. CONCLUSION: Joubert plus syndrome is a very rare occurring condition. Because self-mutilation is sometimes fatal, a treatment plan tailored to each patient's need is mandatory. A multidisciplinary approach is recommended.
Subject(s)
Cerebellum/abnormalities , Eye Abnormalities/complications , Kidney Diseases, Cystic/complications , Lip/injuries , Retina/abnormalities , Self Mutilation/etiology , Tongue/injuries , Abnormalities, Multiple , Cisterna Magna/abnormalities , Humans , Infant , MaleABSTRACT
In this case report we describe how a 13-year-old boy with a complex development profile was diagnosed with adhd and who was also found to have a megacisterna magna, a posterior fossa anomaly in the Dandy-Walker continuum. We searched the literature for reports of other patients who had this (mild) brain anomaly along with psychiatric problems in general and attention problems in particular. Our search of the literature suggested a possible link between the two diagnostic entities.
Subject(s)
Attention Deficit Disorder with Hyperactivity/epidemiology , Dandy-Walker Syndrome/epidemiology , Adolescent , Attention Deficit Disorder with Hyperactivity/etiology , Cisterna Magna/abnormalities , Cisterna Magna/diagnostic imaging , Dandy-Walker Syndrome/complications , Dandy-Walker Syndrome/diagnostic imaging , Humans , Incidental Findings , MaleSubject(s)
Cerebellum/abnormalities , Hydrocephalus/diagnostic imaging , Malformations of Cortical Development/diagnostic imaging , Ultrasonography, Prenatal , Abortion, Induced , Adult , Cerebellar Vermis/abnormalities , Cerebellar Vermis/diagnostic imaging , Cerebellum/diagnostic imaging , Cisterna Magna/abnormalities , Cisterna Magna/diagnostic imaging , Female , Humans , Pregnancy , Pregnancy Trimester, Second , Rhombencephalon/abnormalities , Rhombencephalon/diagnostic imagingSubject(s)
Pregnancy Complications/diagnosis , Prenatal Diagnosis , Spinal Dysraphism/diagnosis , Adult , Arnold-Chiari Malformation/diagnostic imaging , Cisterna Magna/abnormalities , Cisterna Magna/diagnostic imaging , Female , Humans , Pregnancy , Pregnancy Complications/diagnostic imaging , Spinal Dysraphism/diagnostic imaging , Temporal Bone/abnormalities , Temporal Bone/diagnostic imagingABSTRACT
OBJECTIVE: The aim of this retrospective study was to describe the sonographic appearance of the posterior brain anatomy in normal fetuses at 11 to 14 weeks of pregnancy and to determine the fetal outcome when one of the posterior brain anatomical space is not recognized. METHODS: Two groups of patients were included in the study: a control group of consecutive 311 healthy fetuses with a normal sonogram and a study group of 21 fetuses with absence of one of the three posterior brain spaces. In each fetus, images of the mid-sagittal view of the fetal face and brain at 11 to 14 weeks of gestation were obtained. RESULTS: In all fetuses with absence of one of the three posterior brain spaces, a severe anomaly, including open spina bifida, cephalocele, Dandy-Walker complex, and chromosomal aberrations, was associated. CONCLUSION: Our study indicates that the sonographic finding characterized by the absence of one of the three posterior brain spaces seems to facilitate not only the detection of open spina bifida, as previously reported, but also of other neural tube defects, such as cephalocele, and is an important risk factor for cystic posterior brain anomalies, and/or chromosomal abnormalities. Thus it seems a poor prognostic finding for major fetal abnormalities.
Subject(s)
Brain Stem/diagnostic imaging , Chromosome Disorders/diagnostic imaging , Cisterna Magna/diagnostic imaging , Dandy-Walker Syndrome/diagnostic imaging , Fourth Ventricle/diagnostic imaging , Neural Tube Defects/diagnostic imaging , Ultrasonography, Prenatal , Brain Stem/abnormalities , Case-Control Studies , Cisterna Magna/abnormalities , Encephalocele/diagnostic imaging , Female , Fourth Ventricle/abnormalities , Gestational Age , Humans , Pregnancy , Pregnancy Outcome , Pregnancy Trimester, First , Retrospective Studies , Spina Bifida Cystica/diagnostic imagingABSTRACT
Isotretinoin is a drug used for treating severe cystic/nodular acne. Severe malformations have been documented in neonates whose mothers had taken isotretinoin during pregnancy. Women who became pregnant one cycle after completing therapy are believed to be at teratogenic risk not higher than baseline. We describe the case of a newborn whose mother had taken the drug for 4 weeks. The woman then had contraception for 4 weeks (after the drug treatment had finished), and became pregnant after that period. The newborn had isolated bilateral microtia due to suspected isotretinoin exposure. His mother also had a history of urine tract infection in the second week of pregnancy that was treated with cephalexin. The parents were not from a consanguineous marriage and had no family history of congenital malformations. To reduce the risk, effective contraception should be continued in fertile women more than 1 month after completing therapy.
Subject(s)
Abnormalities, Multiple/chemically induced , Congenital Microtia/chemically induced , Dermatologic Agents/toxicity , Isotretinoin/toxicity , Maternal-Fetal Exchange , Teratogens/toxicity , Apgar Score , Cerebellar Vermis/abnormalities , Cerebellar Vermis/drug effects , Cesarean Section , Cisterna Magna/abnormalities , Cisterna Magna/drug effects , Female , Humans , Infant, Newborn , Iran , Male , Polyhydramnios/chemically induced , Polyhydramnios/physiopathology , Polyhydramnios/surgery , Pregnancy , Term BirthABSTRACT
OBJECTIVE: To describe the perinatal and neonatal outcomes for fetuses with posterior fossa (PF) anomalies - mega-cisterna magna (MCM), persistent Blake's pouch (PBP) or the Dandy-Walker continuum (DWC) - using a new classification. METHODS: 46 cases with PF anomaly diagnosed on ultrasound (US) between 16 and 28 weeks' gestation were included. The images were reviewed and classified as one of the following: MCM, PBP or DWC. Outcomes were obtained from patient records. RESULTS: 30 cases with DWC, 6 with MCM, and 10 with PBP were identified. Associated anomalies were present in all groups, but more frequent in DWC. Agenesis of the corpus callosum and ventriculomegaly were more common in DWC than in MCM or PBP. Only fetuses with DWC were found to have chromosomal abnormalities. Perinatal outcomes differed significantly, with terminations of pregnancy more frequent in DWC. In the immediate postnatal period, infants with DWC had worse outcomes than those with MCM and PBP. Across all groups, those with associated anomalies had worse outcomes than those with an isolated PF anomaly. CONCLUSION: Infants antenatally diagnosed with DWC had worse perinatal and short-term neonatal outcomes than those with MCM or PBP. Those with associated anomalies had uniformly poorer outcomes than those with isolated anomalies.
Subject(s)
Cisterna Magna/abnormalities , Dandy-Walker Syndrome/diagnostic imaging , Pregnancy Outcome , Cerebrospinal Fluid/diagnostic imaging , Cisterna Magna/diagnostic imaging , Cross-Sectional Studies , Diagnosis, Differential , Female , Humans , Pregnancy , Prenatal Diagnosis , Retrospective Studies , UltrasonographyABSTRACT
INTRODUCTION: Cisterna magna (CM) measurement constitutes part of the sonographic assessment of the posterior fossa. CM enlargement (ECM) is defined as a measurement exceeding 10 mm, although it has previously been noted that the CM varies in size with gestation. Existing data do not appear to reflect observations regarding CM biometry within our population and this study was therefore undertaken in order to re-evaluate CM biometry. MATERIALS AND METHODS: Data from 4,750 normal pregnancies between 15 and 32 weeks of gestation were collected and used to construct a reference range for the CM. RESULTS: Regression analysis was used to model CM across gestational age and thereby define the upper limits for normal CM measurements across gestation. The CM increases with gestation. These data suggest that a 10-mm cut-off underestimates ECM, notably in the gestational age period below 24 weeks, whilst overestimating isolated ECM beyond this. Differences in CM measurements between genders were confirmed (p < 0.0001). CONCLUSIONS: Defining ECM based upon a cut-off of 10 mm across all gestations may be inappropriate given the variation observed with gestational age. More accurate identification of fetuses with, in particular, isolated ECM may facilitate more precise evaluation of the clinical significance of this finding.
Subject(s)
Cisterna Magna/diagnostic imaging , Adult , Anthropometry/methods , Cisterna Magna/abnormalities , Cisterna Magna/embryology , Dilatation, Pathologic/diagnostic imaging , Dilatation, Pathologic/pathology , Female , Humans , Male , Nervous System Malformations/diagnostic imaging , Nervous System Malformations/embryology , Pregnancy , Reference Values , Retrospective Studies , Ultrasonography, PrenatalABSTRACT
We report the case of a 33-year-old pregnant woman. The third-trimester ultrasound scan during pregnancy revealed fetal bilateral ventricular dilatation, macrosomia and a transverse diameter of the cerebellum at the 30th centile. A brain MRI scan at 31 weeks of gestation led to a diagnosis of hypoplasia of the cerebellar vermis without hemisphere abnormalities and a non compressive expansion of the cisterna magna. The fetal karyotype was 46,XX. The pregnancy was terminated and array-CGH analysis of the fetus identified a 238 kb de novo deletion on chromosome Xp12, encompassing part of OPHN1 gene. Further studies revealed a completely skewed pattern of X inactivation. OPHN1 is involved in X-linked mental retardation (XLMR) with cerebellar hypoplasia and encodes a Rho-GTPase-activating protein called oligophrenin-1, which is produced throughout the developing mouse brain and in the hippocampus and Purkinje cells of the cerebellum in adult mice. Neuropathological examination of the female fetus revealed cerebellar hypoplasia and the heterotopia of Purkinje cells at multiple sites in the white matter of the cerebellum. This condition mostly affects male fetuses in humans. We report here the first case of a de novo partial deletion of OPHN1, with radiological and neuropathological examination, in a female fetus.
Subject(s)
Cerebellum/abnormalities , Cytoskeletal Proteins/genetics , Fetus/abnormalities , GTPase-Activating Proteins/genetics , Gene Deletion , Nervous System Diseases/genetics , Nervous System Malformations/genetics , Nuclear Proteins/genetics , Adult , Cerebellum/pathology , Cisterna Magna/abnormalities , Developmental Disabilities/genetics , Developmental Disabilities/pathology , Female , Humans , Karyotyping , Mental Retardation, X-Linked/genetics , Mental Retardation, X-Linked/pathology , Nervous System Diseases/pathology , Nervous System Malformations/pathology , Pregnancy , Purkinje Cells/metabolism , X Chromosome InactivationABSTRACT
BACKGROUND AND PURPOSE: Periventricular nodular heterotopia are common malformations of cortical development that are associated with many clinical syndromes and with many different neuroimaging phenotypes. The purpose of this study was to determine whether specific malformation phenotypes may be related to location, side, or number of PNH as assessed by MR imaging. MATERIALS AND METHODS: MR images of 200 patients previously diagnosed with PNH were retrospectively analyzed. PNH were classified according to their location along the ventricles (anterior, posterior, or diffuse), side (unilateral or bilateral), and number of nodules (<5, 6-10, or >10). The cerebrum, brain stem and cerebellum were analyzed to assess associated anomalies. Associations between PNH location and the presence of other anomalies were tested by using Fisher exact test and χ2 test. RESULTS: Posterior PNH were significantly associated with malformations of the cerebral cortex, diminished white matter volume, and mid-/hindbrain anomalies. Diffuse PNH were associated with diminished white matter volume, callosal "anomalies," and the presence of megacisterna magna. Unilateral PNH were strongly associated with cortical malformations. CONCLUSIONS: Certain malformation complexes are associated with PNH in specific locations: posterior PNH with cerebral cortical and mid-/hindbrain malformations and diffuse PNH with callosal anomalies and megacisterna magna. Knowledge of these associations should allow more directed analyses of brain MR imaging in patients with PNH. In addition, knowledge of these associations may help to direct studies to elucidate the causes of these malformation complexes.
Subject(s)
Lateral Ventricles/abnormalities , Magnetic Resonance Imaging , Periventricular Nodular Heterotopia/pathology , Adolescent , Adult , Aged , Basal Ganglia/abnormalities , Child , Child, Preschool , Cisterna Magna/abnormalities , Corpus Callosum/pathology , Female , Fetus/abnormalities , Hippocampus/abnormalities , Humans , Hypothalamus/abnormalities , Infant , Infant, Newborn , Male , Middle Aged , Phenotype , Retrospective Studies , Thalamus/abnormalities , Young AdultABSTRACT
Klippel-Trenaunay syndrome (KTS) is a rare, sporadic and complex malformation characterized by the clinical triad of: (i) capillary malformation (port-wine stain); (ii) soft tissue and bone hypertrophy or occasionally, hypertrophy of one lower limb; and (iii) atypical lateral varicosity. The maternal and fetal risks associated with pregnancy in women with KTS are proportional to disease severity, which can be exacerbated by pregnancy. Complications include bleeding, disseminated intravascular coagulation, thromboembolic events and pain. Here, we report the case of a pregnant woman with KTS who had an uneventful pregnancy, labor and postpartum course, but had splenic and large vulvar vein varices. The obstetrical course of women with KTS varies. Management is largely conservative and multidisciplinary approaches form the mainstay for managing these patients based on their symptoms.
Subject(s)
Cisterna Magna/abnormalities , Klippel-Trenaunay-Weber Syndrome/therapy , Pregnancy Complications, Cardiovascular/therapy , Splenic Vein , Varicose Veins/therapy , Vulva/blood supply , Adult , Female , Humans , Klippel-Trenaunay-Weber Syndrome/diagnosis , Pregnancy , Pregnancy Complications, Cardiovascular/diagnosis , Splenic Vein/diagnostic imaging , Splenic Vein/pathology , Ultrasonography , Varicose Veins/diagnosisABSTRACT
OBJECTIVE: The purpose of this study was to describe the relationship between intracranial and extracranial anomalies and neurodevelopmental outcome for fetuses diagnosed with a posterior fossa anomaly (PFA) on fetal MRI. METHODS: Cases of Dandy-Walker malformation, vermian hypogenesis/hypoplasia, and mega cisterna magna (MCM) were identified through the Fetal Care Center of Cincinnati between January 2004 and December 2010. Parental interview and retrospective chart review were used to assess neurodevelopmental outcome. RESULTS: Posterior fossa anomalies were identified in 59 fetuses; 9 with Dandy-Walker malformation, 36 with vermian hypogenesis/hypoplasia, and 14 with MCM. Cases with isolated PFAs (14/59) had better outcomes than those with additional anomalies (p = 0.00016), with isolated cases of MCM all being neurodevelopmentally normal. Cases with additional intracranial anomalies had a worse outcome than those without intracranial anomalies (p = 0.00017). The presence of extracranial anomalies increased the likelihood of having a poor outcome (p = 0.00014) as did the identification of an abnormal brainstem (p = 0.00018). CONCLUSION: Intracranial and extracranial anomalies were good predictors of neurodevelopmental outcome in this study. The prognosis was poor for individuals with an abnormal brainstem, whereas those with isolated MCM had normal neurodevelopmental outcome.