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Septo optic dysplasia

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https://www.readbyqxmd.com/read/29663010/septo-optic-dysplasia-assessment-of-associated-findings-with-special-attention-to-the-olfactory-sulci-and-tracts
#1
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
#2
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
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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...
January 1, 2017: Journal of Child Neurology
https://www.readbyqxmd.com/read/28458461/endocrine-status-of-patients-with-septo-optic-dysplasia-fourteen-japanese-cases
#11
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
#12
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
#13
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
#14
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
#15
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.
January 3, 2017: International Ophthalmology
https://www.readbyqxmd.com/read/27974184/genetic-causes-of-isolated-and-combined-pituitary-hormone-deficiency
#16
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
https://www.readbyqxmd.com/read/27935818/prenatal-ethanol-exposure-in-mice-phenocopies-cdon-mutation-by-impeding-shh-function-in-the-etiology-of-optic-nerve-hypoplasia
#17
Benjamin M Kahn, Tanya S Corman, Korah Lovelace, Mingi Hong, Robert S Krauss, Douglas J Epstein
Septo-optic dysplasia (SOD) is a congenital disorder characterized by optic nerve, pituitary and midline brain malformations. The clinical presentation of SOD is highly variable with a poorly understood etiology. The majority of SOD cases are sporadic, but in rare instances inherited mutations have been identified in a small number of transcription factors, some of which regulate the expression of Sonic hedgehog (Shh) during mouse forebrain development. SOD is also associated with young maternal age, suggesting that environmental factors, including alcohol consumption at early stages of pregnancy, might increase the risk of developing this condition...
January 1, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/27849382/visual-vignette
#18
Scott James Steven, Khuram Kazmi, Ajay Kohli, Barbara Simon
No abstract text is available yet for this article.
June 2017: Endocrine Practice
https://www.readbyqxmd.com/read/27000987/hesx1-mutations-in-patients-with-congenital-hypopituitarism-variable-phenotypes-with-the-same-genotype
#19
MULTICENTER STUDY
Qing Fang, Anna Flavia Figueredo Benedetti, Qianyi Ma, Louise Gregory, Jun Z Li, Mehul Dattani, Abdollah Sadeghi-Nejad, Ivo J P Arnhold, Berenice Bilharinho Mendonca, Sally A Camper, Luciani R Carvalho
INTRODUCTION: Mutations in the transcription factor HESX1 can cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD) with or without septo-optic dysplasia (SOD). So far there is no clear genotype-phenotype correlation. PATIENTS AND RESULTS: We report four different recessive loss-of-function mutations in three unrelated families with CPHD and no midline defects or SOD. A homozygous p.R160C mutation was found by Sanger sequencing in two siblings from a consanguineous family...
September 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/26929863/gastroschisis-complicated-by-septo-optic-dysplasia-two-distinct-anomalies-with-a-common-origin
#20
Jodi Garvin, Venkatesh Sampath, Vijender R Karody
Introduction Gastroschisis is considered to be an isolated abdominal wall defect that is infrequently associated with other anomalies. Case This case describes an infant with gastroschisis who developed refractory shock after an uncomplicated surgery for bowel atresia. He was found to have adrenal insufficiency secondary to septo-optic dysplasia with panhypopituitarism. Conclusion Gastroschisis and septo-optic dysplasia arise from vascular disruptions, therefore presence in the same infant can be more than just a coincidence...
March 2016: American Journal of Perinatology Reports
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