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"Septo-Optic Dysplasia"

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
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
Mehnaz Jabeen, Amber Hairfield, Leonard E Swischuk, Sunil K Jain
Introduction We describe a newborn female infant with septo-optic dysplasia (SOD) presenting with bilateral dilated and fixed pupils. Conclusion Our report is unique because the incidental finding of bilateral dilated and fixed pupils on the newborn exam was the only clinical finding which led to a prompt work-up and eventual diagnosis of SOD.
March 2016: American Journal of Perinatology Reports
Janel D Hunter, Ali S Calikoglu
BACKGROUND: Central diabetes insipidus (CDI) results from a number of conditions affecting the hypothalamic-neurohypophyseal system to cause vasopressin deficiency. Diagnosis of CDI is challenging, and clinical data and guidelines for management are lacking. We aim to characterize clinical and radiological characteristics of a cohort of pediatric patients with CDI. METHODS: A chart review of 35 patients with CDI followed at North Carolina Children's Hospital from 2000 to 2015 was undertaken...
2016: International Journal of Pediatric Endocrinology
Jamie M Musgrove, Cheryl Riley
Septo-optic dysplasia (SOD) is a rare congenital heterogeneous malformation. SOD was formerly known as de Morsier syndrome, which associated a midline brain defect such as an absent septum pellucidum with optic nerve hypoplasia. The diagnosis of SOD is made when there are two or more characteristics of the classic triad. The triad consists of optic nerve hypoplasia, pituitary hormone abnormalities, and midline brain defects, although it can vary in the severity of clinical presentation and phenotype. The purpose of this article is to review a case and analyze the literature regarding prevalence, etiology, clinical presentation, diagnosis, and management of SOD...
2016: Neonatal Network: NN
Masaki Takagi, Mai Takahashi, Yoshiaki Ohtsu, Takeshi Sato, Satoshi Narumi, Hirokazu Arakawa, Tomonobu Hasegawa
Heterozygous and/or homozygous HESX1 mutations have been reported to cause isolated growth hormone deficiency (IGHD) or combined pituitary hormone deficiency (CPHD), in association with septo optic dysplasia (SOD). We report a novel heterozygous HESX1 mutation in a CPHD patient without SOD phenotypes. The propositus was a one-year-old Japanese girl. Shortly after birth, she was found to be hypoglycemic. She was diagnosed with central adrenal insufficiency based on low cortisol and ACTH at a time of severe hypoglycemia...
April 25, 2016: Endocrine Journal
Aqeela H Al-Hashim, Susan Blaser, Charles Raybaud, Daune MacGregor
AIM: To study neuroradiological features in pediatric patients with corpus callosum abnormalities, using new functional subtyping for the corpus callosum, and to correlate the features with the clinical presentation. METHOD: We performed a retrospective review of 125 patients with radiologically identified abnormalities of the corpus callosum seen between 1999 and 2012. The study reviewed clinical features, genetic etiology, and chromosomal microarray (CMA) results...
May 2016: Developmental Medicine and Child Neurology
J Sala-Padró, M Toledo, S Sarria, E Santamarina, M Gonzalez-Cuevas, M Sueiras-Gil, J Salas-Puig
PURPOSE: Among the different precipitating stimuli for reflex seizures, Touch-Induced Seizures (TIS) and Hot Water Seizures (HWS) are consistently described in different reports. The aim of this study was to analyze the clinical, EEG and image data of patients with TIS and HWS. METHODS: We retrospectively analyzed patients who were followed up in our Epilepsy Unit and had seizures triggered by these stimuli. All patients were studied with electroencephalography (EEG) and magnetic resonance (MR)...
December 2015: Seizure: the Journal of the British Epilepsy Association
Adel Djermane, Monique Elmaleh, Dominique Simon, Amélie Poidvin, Jean-Claude Carel, Juliane Léger
CONTEXT: Neonatal central diabetes insipidus (CDI) with or without adipsia is a very rare complication of various complex hypothalamic disorders. It is associated with greater morbidity and a high risk of developing both hypernatremia and hyponatremia, due to the condition itself or secondary to treatment with vasopressin analogs or fluid administration. Its outcomes have yet to be evaluated. OBJECTIVE: To investigate the clinical outcomes of patients with neonatal-onset CDI or adipsic CDI with hypernatremia...
February 2016: Journal of Clinical Endocrinology and Metabolism
Kinley D Beck, Clio A Harper
PURPOSE: To describe the previously unreported ocular anomalies in the rare condition of tetraploidy. METHODS: This study is a retrospective case report of a 23-day-old male infant with tetraploidy. RetCam fundus photography and neuroimaging were performed. RESULTS: This 23-day-old male infant was born at full term and found to have tetraploidy with numerous congenital anomalies including bilateral optic nerve colobomas, left microphthalmia, vitreous hemorrhage, and septo-optic dysplasia...
2016: Retinal Cases & Brief Reports
Mark J McCabe, Youli Hu, Louise C Gregory, Carles Gaston-Massuet, Kyriaki S Alatzoglou, José W Saldanha, Angelica Gualtieri, Ajay Thankamony, Ieuan Hughes, Sharron Townshend, Juan-Pedro Martinez-Barbera, Pierre-Marc Bouloux, Mehul T Dattani
KAL1 is implicated in 5% of Kallmann syndrome cases, a disorder which genotypically overlaps with septo-optic dysplasia (SOD). To date, a reporter-based assay to assess the functional consequences of KAL1 mutations is lacking. We aimed to develop a luciferase assay for novel application to functional assessment of rare KAL1 mutations detected in a screen of 422 patients with SOD. Quantitative analysis was performed using L6-myoblasts stably expressing FGFR1, transfected with a luciferase-reporter vector containing elements of the FGF-responsive osteocalcin promoter...
December 5, 2015: Molecular and Cellular Endocrinology
Vinay K Maurya, R Ravikumar, M Bhatia, Roma Rai
Septo-optic dysplasia is a rare congenital disorder involving brain and optic pathways. We present typical Magnetic Resonance Imaging (MRI) findings of a case of Septo-optic dysplasia in a 19 year old female patient.
July 2015: Medical Journal, Armed Forces India
Magdalena Avbelj Stefanija, Primož Kotnik, Nina Bratanič, Mojca Žerjav Tanšek, Sara Bertok, Nataša Bratina, Tadej Battelino, Katarina Trebušak Podkrajšek
BACKGROUND/AIMS: The HESX1 gene is essential in forebrain development and pituitary organogenesis, and its mutations are the most commonly identified genetic cause of septo-optic dysplasia (SOD). The PROP1 gene is involved in anterior pituitary cell lineage specification and is commonly implicated in non-syndromic combined pituitary hormone deficiency (CPHD). We aimed to assess the involvement of HESX1 and PROP1 mutations in a cohort of patients with SOD and CPHD. METHODS: Six patients with sporadic SOD and 16 patients with CPHD from 14 pedigrees were screened for mutations in HESX1 and PROP1 genes by exon sequencing...
2015: Hormone Research in Pædiatrics
Anastasia Pilat, Daniel Sibley, Rebecca J McLean, Frank A Proudlock, Irene Gottlob
PURPOSE: To investigate the optic nerve and macular morphology in patients with optic nerve hypoplasia (ONH) using spectral-domain optical coherence tomography (SD OCT). DESIGN: Prospective, cross-sectional, observational study. SUBJECTS: A total of 16 participants with ONH (10 female and 6 male; mean age, 17.2 years; 6 bilateral involvement) and 32 gender-, age-, ethnicity-, and refraction-matched healthy controls. METHODS: High-resolution SD OCT (Copernicus [Optopol Technology S...
July 2015: Ophthalmology
Monika Obara-Moszyńska, Marek Niedziela
INTRODUCTION: Stimulation tests form the basis for the diagnostic process in growth hormone deficiency (GHD). One of these tests uses the GH releasing hormone (GHRH). This provides the potential to differentiate patients with pituitary dysfunction from patients with hypothalamus abnormalities. However, the routine use of the GHRH test is still being debated. The aim of this study was to assess the diagnostic usefulness of the GHRH test in the diagnostics of GHD. MATERIAL AND METHODS: The study group consisted of 20 prepubertal children with GHD...
2015: Endokrynologia Polska
Ayse Pinar Cemeroglu, Tarin Coulas, Lora Kleis
BACKGROUND: Septo-optic dysplasia (SOD) is a rare condition with variable clinical pictures and spectrum of findings. OBJECTIVE: To analyze the spectrum of findings, frequency and age of onset of hypothalamic-pituitary dysfunctions in children with SOD. METHOD: A retrospective electronic medical record (EMR) chart review was done for patients with SOD seen in a tertiary care center's pediatric endocrinology clinic between January 1, 2012, and March 31, 2014...
September 2015: Journal of Pediatric Endocrinology & Metabolism: JPEM
Abdul Majeed Kavarodi, Khalid Zharani, El-Sayed Ali, Hussain Sharahili
Septo-optic dysplasia complex (SODC) is a rare congenital anomaly, characterized with absence of septum pellucidum, optic nerve hypoplasia with or without pituitary dysfunction. Various midline defects are also associated with SODC in addition to its classical findings. We report, for the first time a rare presentation of SODC which is associated with pre-maxillary agenesis along with sphenoidal encephalocele and omphalocele. The case showed resulting median cleft lip and palate along with other multiple congenital defects including hydrocele, inguinal hernia, micropenis and a wide mediastinum...
March 2015: Journal of Maxillofacial and Oral Surgery
Austin Larson, Natalie J Nokoff, Naomi J L Meeks
In recent decades, dozens of genes that cause isolated and combined pituitary hormone deficiencies have been discovered. We will review the clinically relevant genes known to cause isolated and combined pituitary hormone deficiencies in humans. This review will address genetic causes of adrenocorticotropic hormone deficiency, thyroid stimulating hormone deficiency, growth hormone deficiency, hypogonadotropic hypogonadism, and diabetes insipidus. Additionally, we will discuss genetic causes of combined pituitary hormone deficiency, septo-optic dysplasia, holoprosencephaly, and multisystemic syndromes in which hypopituitarism is a significant component...
March 2015: Discovery Medicine
M C Brodsky
No abstract text is available yet for this article.
December 1991: Seminars in Ophthalmology
Yumi Asakura, Koji Muroya, Junko Hanakawa, Takeshi Sato, Noriko Aida, Satoshi Narumi, Tomonobu Hasegawa, Masanori Adachi
Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant (c.742C>T; p.R248W) in a female patient who had combined pituitary hormone deficiency (CPHD), morning glory syndrome and a severely malformed pituitary gland. No other mutation was present in 27 genes related to hypogonadotropic hypogonadism, pituitary hormone deficiency and optic nerve malformation...
January 2015: Clinical Pediatric Endocrinology: Case Reports and Clinical Investigations: Official Journal of the Japanese Society for Pediatric Endocrinology
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