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"Septo-Optic Dysplasia"

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https://www.readbyqxmd.com/read/29879744/ultrasound-nomograms-of-the-fetal-optic-nerve-sheath-diameter
#1
Karina Krajden Haratz, Yaakov Melcer, Zvi Leibovitz, Hagit Feit, Tally Kerman-Sagie, Dorit Lev, Shimon Ginath, Liat Gindes, Antonio Fernandes Moron, Gustavo Malinger
OBJECTIVE:  To construct prenatal age-specific reference intervals for sonographic measurements of the optic nerve sheath diameter (ONSD) during gestation in normal fetuses. MATERIALS AND METHODS:  Prospective cross-sectional study of fetuses assessed in antenatal ultrasound units between 2010 and 2014. The examination was based on a technique for the sonographic assessment of ONSD previously published by our group. The mean values and SDs of the ONSD were modeled as a function of the gestational week by curve estimation analysis based on the highest adjusted R2 coefficient...
June 7, 2018: Ultraschall in der Medizin
https://www.readbyqxmd.com/read/29789951/sleep-in-children-with-congenital-malformations-of-the-central-nervous-system
#2
REVIEW
Jacqueline F Yates, Matthew M Troester, David G Ingram
PURPOSE OF REVIEW: Congenital malformations of the central nervous system may be seen in isolation or in association with syndromes that have multiorgan involvement. Among the potential health challenges these children may face, sleep concerns are frequent and may include chronic insomnia, sleep-related breathing disorders, and circadian rhythm disorders. RECENT FINDINGS: In this review, we describe recent research into sleep disorders affecting children with congenital malformations of the CNS including visual impairment, septo-optic dysplasia, agenesis of the corpus callosum, Aicardi syndrome, Chiari malformation, spina bifida, achondroplasia, Joubert syndrome, fetal alcohol spectrum disorders, and congenital Zika syndrome...
May 23, 2018: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/29753093/epidemiology-of-septo-optic-dysplasia-with-focus-on-prevalence-and-maternal-age-a-eurocat-study
#3
Ester Garne, Anke Rissmann, Marie-Claude Addor, Ingeborg Barisic, Jorieke Bergman, Paula Braz, Clara Cavero-Carbonell, Elizabeth S Draper, Miriam Gatt, Martin Haeusler, Kari Klungsoyr, Jennifer J Kurinczuk, Nathalie Lelong, Karen Luyt, Catherine Lynch, Mary T O'Mahony, Olatz Mokoroa, Vera Nelen, Amanda J Neville, Anna Pierini, Hanitra Randrianaivo, Judith Rankin, Florence Rouget, Bruno Schaub, David Tucker, Christine Verellen-Dumoulin, Diana Wellesley, Awi Wiesel, Nataliia Zymak-Zakutnia, Monica Lanzoni, Joan K Morris
Septo-optic nerve dysplasia is a rare congenital anomaly with optic nerve hypoplasia, pituitary hormone deficiencies and midline developmental defects of the brain. The clinical findings are visual impairment, hypopituitarism and developmental delays. The aim of this study was to report prevalence, associated anomalies, maternal age and other epidemiological factors from a large European population based network of congenital anomaly registries (EUROCAT). Data from 29 full member registries for the years 2005-2014 were included, covering 6...
May 10, 2018: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/29705173/ultrasonographic-prenatal-imaging-of-fetal-ocular-and-orbital-abnormalities
#4
REVIEW
Courtney L Ondeck, Dolores Pretorius, Jill McCaulley, Michael Kinori, Theresa Maloney Rdms, Andrew Hull, Shira L Robbins
Technological progress in medicine has provided earlier diagnosis, even in the prenatal period. We address ultrasonographic imaging of the prenatal eye and orbit. During development of these structures, multiple pathologies and diseases can arise. Orbital anomalies can be detected prenatally using ultrasound or MRI. Some of these include congenital cataracts, hypertelorism, hypotelorism, dacryocystocele, microphthalmia, anophthalmia, orbital tumors/masses, and septo-optic dysplasia. We describe characteristic ultrasound findings of these diseases...
April 26, 2018: Survey of Ophthalmology
https://www.readbyqxmd.com/read/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#5
John C Benson, David Nascene, Charles Truwit, Alexander M McKinney
PURPOSE: Septo-optic dysplasia is a congenital disorder consisting of optic nerve hypoplasia and absent septum pellucidum. While associated anomalies have been described, olfactory sulcus and bulb-tract hypoplasia have been scantily reported and was the focus of this study. METHODS: The picture archival and communications system and radiology information system (PACS-RIS) was searched over 15 years for patients with suspected septo-optic dysplasia (n = 41) and cerebral magnetic resonance imaging (MRI)...
April 16, 2018: Clinical Neuroradiology
https://www.readbyqxmd.com/read/29479262/increasing-incidence-of-optic-nerve-hypoplasia-septo-optic-dysplasia-spectrum-geographic-clustering-in-northern-canada
#6
Tanya Khaper, Martin Bunge, Ian Clark, Mubeen Fatima Rafay, Aziz Mhanni, Nicole Kirouac, Atul Sharma, Celia Rodd, Brandy Wicklow
Introduction: Owing to the shared embryonic origin, defects in development of optic nerves are often seen in conjunction with defects affecting the surrounding brain and pituitary gland. Optic nerve hypoplasia (ONH) and septo-optic dysplasia (SOD) represent a clinical spectrum associated with visual, pituitary and severe central nervous system structural abnormalities (SODplus). Based on changing clinical patterns, our primary objective was to examine trends in annual incidence of ONH/SOD and geographical clustering in Manitoba...
November 2017: Paediatrics & Child Health
https://www.readbyqxmd.com/read/29437724/nailing-septo-optic-dysplasia
#7
Rajan Palui, Jaya Prakash Sahoo, Sadishkumar Kamalanathan, Kalyani Sridharan
No abstract text is available yet for this article.
February 7, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29317570/bilateral-exudative-retinal-detachment-in-septo-optic-dysplasia
#8
LETTER
Maftuhim Addenan, Choo May May
No abstract text is available yet for this article.
December 15, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29159066/six-adult-patients-with-septo-optic-dysplasia-and-drug-resistant-epilepsy-clinical-findings-and-course
#9
Mashael AlKhateeb, Richard McLachlan, Jorge Burneo, David Diosy, Seyed Mirsattari
Septo-optic dysplasia (SOD) is a rare disorder associated with optic nerve hypoplasia, pituitary abnormalities and agenesis/dysgenesis of midline brain structures including the septum pellucidum and corpus callosum. Though sometimes associated with drug-resistant epilepsy, this association has not been well studied. We report six SOD patients with associated malformation of cortical development (MCD) and drug-resistant epilepsy who underwent video-EEG telemetry at our centre between 1998 and 2016 for drug-resistant epilepsy...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/29026269/clinical-characteristics-of-septo-optic-dysplasia-accompanied-by-congenital-central-hypothyroidism-in-japan
#10
Keisuke Nagasaki, Takuo Kubota, Hironori Kobayashi, Hirotake Sawada, Chikahiko Numakura, Shohei Harada, Kei Takasawa, Kanshi Minamitani, Tomohiro Ishii, Satoshi Okada, Hotaka Kamasaki, Shigetaka Sugihara, Masanori Adachi, Toshihiro Tajima
Septo-optic dysplasia (SOD) is a congenital anomaly in which agenesis of the septum pellucidum and optic nerve hypoplasia are accompanied by hypopituitarism. Typically, the symptoms develop in 3 organs, the brain, eyes, and pituitary, and approximately one third of the patients present with all of the three cardinal features. The diagnostic criteria for SOD were established in Japan in 2015. The purpose of this study is to review clinical features regarding SOD patients with hypopituitarism in Japan. In this study, 21 patients with SOD were identified by a questionnaire survey for congenital central hypothyroidism...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28982953/neuroimaging-and-endocrine-disorders-in-paediatric-optic-nerve-hypoplasia
#11
Xiaoxiao Qian, Samksha Fouzdar Jain, Linda A Morgan, Travis Kruse, Monina Cabrera, Donny W Suh
PURPOSE: Optic nerve hypoplasia (ONH) is one of the leading causes of blindness among children. The purpose of this retrospective study is to determine the risk factors and association between brain MRI findings, pituitary abnormalities and endocrine disorders with the presence of ONH. METHODS: A retrospective review of patients seen at paediatric ophthalmology clinics from January 2006 to December 2016 at Children's Hospital and Medical Center and the University of Nebraska Medical Center was performed...
October 5, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/28699050/-optic-nerve-hypoplasia-and-septo-optic-dysplasia
#12
R Lohmüller, A-S Gangloff, F Wenzel, W A Lagrèze
Optic nerve hypoplasia (ONH) is one of the most common causes of congenital visual impairment. It was first described in 1915 and represents a developmental disorder of the central nervous system. It is often associated with intracranial midline defects and is then referred to as septo-optic dysplasia (SOD). The symptoms of ONH range from minimal visual dysfunction to significant visual impairment with sensory defect nystagmus and even blindness. The ONH is often associated with further systemic, endocrinological and neurological abnormalities requiring a close interdisciplinary treatment of the patients...
August 2017: Der Ophthalmologe: Zeitschrift der Deutschen Ophthalmologischen Gesellschaft
https://www.readbyqxmd.com/read/28542028/bilateral-optic-disc-pits-with-posterior-pituitary-ectopia
#13
Jonathan C Horton, A James Barkovich
Posterior pituitary ectopia has been reported previously in association with optic nerve hypoplasia, as a variant of septo-optic dysplasia. We describe a 14-year-old boy with posterior pituitary ectopia and bilateral optic disc pits. He had hypopituitarism and a reduction in visual acuity to 20/40 in each eye, owing to loss of foveal ganglion cells. Optic pits and posterior pituitary ectopia may have occurred together in the same subject by chance, but the rarity of both conditions suggests a possible association...
December 2017: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/28482731/clinical-and-radiologic-spectrum-of-septo-optic-dysplasia-review-of-17-cases
#14
Callie Alt, Michael I Shevell, Chantal Poulin, Bernard Rosenblatt, Christine Saint-Martin, Myriam Srour
We retrospectively reviewed the clinical and radiologic characteristics of 17 individuals with septo-optic dysplasia (SOD) and attempted to identify correlations between imaging findings, clinical features, and neurodevelopmental outcome. Surprisingly, only 1 (6%) individual was classified as classic SOD (with septum pellucidum/corpus callosum dysgenesis), 3 (18%) as SOD-like (with normal septum pellucidum/corpus callosum) and the majority, 13 (76%), as SOD-plus (with cortical brain malformation). Cortical abnormalities included schizencephaly, polymicrogyria, and gray matter heterotopias...
August 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28458461/endocrine-status-of-patients-with-septo-optic-dysplasia-fourteen-japanese-cases
#15
Mikiko Koizumi, Shinobu Ida, Yasuko Shoji, Yuri Etani, Yoshikazu Hatsukawa, Nobuhiko Okamoto
A clinical diagnosis of septo-optic dysplasia (SOD) is made when two or more of the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities or midline brain defects. To date, a clinical study of SOD, regarding its endocrinological features in particular, has not been undertaken in Japan. We retrospectively evaluated 14 SOD patients at our institution. Hormonal dysfunction was present in 78% of cases: ten cases presented combined hypopituitarism and one case presented precocious puberty. GHD and hypothyroidism were the most common endocrinopathies...
2017: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
https://www.readbyqxmd.com/read/28445302/cholestasis-caused-by-panhypopituitarism-and-acquired-cytomegalovirus-infection-in-a-2-month-old-male-infant-a-case-report
#16
U Chan, Wai-Tao Chan, Wei-Hsin Ting, Che-Sheng Ho, Hsi-Che Liu, Hung-Chang Lee
RATIONALE: Septo-optic dysplasia (SOD) is a rare congenital disorder that may cause jaundice in infants. However, it is usually prone to neglect and misdiagnosis in infants with cholestasis because endocrine disorder such as panhypopituitarism is rare in the cause of infantile cholestasis. We report a case of SOD concurrent with acquired cytomegalovirus (CMV) infection, who presented with prolonged jaundice as the first clinical sign. PATIENT CONCERNS: The patient was a 2-month-old male infant who presented with cholestasis, combined with fever and panhypopituitarism...
April 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28396770/characterization-of-a-novel-hesx1-mutation-in-a-pediatric-case-of-septo-optic-dysplasia
#17
Sara Pozzi, Wen-Hann Tan, JuanPedro Martinez-Barbera
Septo-optic dysplasia (SOD) is a rare condition for which the precise etiology is still unclear. Elucidating the genetic component of SOD is a difficult but necessary task for the future. We describe herein a novel HESX1 c.475C>T (p.R159W) mutation and demonstrate its potential pathogenicity in the development of this rare disease.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28217067/septo-optic-dysplasia-de-morsier-s-syndrome
#18
Pedro Reis, Joana Mourão
Septo-optic dysplasia (SOD)/de Morsier's syndrome is characterized by optic nerve hypoplasia, pituitary endocrine dysfunction, and midline brain abnormalities. Hypopituitarism, hypothyroidism, hypogonadism, and adrenal insufficiency can lead to severe hypoglycemia, adrenal crisis, seizures, and sudden death. Anesthetic management of SOD was associated with high perioperative mortality. A 9-year-old male child proposed for dental treatments/extractions. Medical history of SOD with hypopituitarism, hypothyroidism, and delayed psychomotor development was observed...
January 2017: Saudi Journal of Anaesthesia
https://www.readbyqxmd.com/read/28050731/septo-optic-dysplasia
#19
Vinod Kumar, Anjana Karunakaran, Jineesh Valakada
A seven-month-old child with congenital poor vision was referred for evaluation. Fundus examination revealed bilateral optic nerve hypoplasia with disc macula distance of approximately ten disc diameters. Neuroimaging revealed finding consistent with septo-optic dysplasia.
February 2018: International Ophthalmology
https://www.readbyqxmd.com/read/27974184/genetic-causes-of-isolated-and-combined-pituitary-hormone-deficiency
#20
REVIEW
Mara Giordano
Research over the last 20 years has led to the elucidation of the genetic aetiologies of Isolated Growth Hormone Deficiency (IGHD) and Combined Pituitary Hormone Deficiency (CPHD). The pituitary plays a central role in growth regulation, coordinating the multitude of central and peripheral signals to maintain the body's internal balance. Naturally occurring mutation in humans and in mice have demonstrated a role for several factors in the aetiology of IGHD/CPHD. Mutations in the GH1 and GHRHR genes shed light on the phenotype and pathogenesis of IGHD whereas mutations in transcription factors such as HESX1, PROP1, POU1F1, LHX3, LHX4, GLI2 and SOX3 contributed to the understanding of CPHD...
December 2016: Best Practice & Research. Clinical Endocrinology & Metabolism
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