Results 41 to 50 of about 279,200 (174)

De Morsier syndrome associated with periventricular nodular heterotopia: case reporte Síndrome de De Morsier associada a heterotopia nodular periventricular: relato de caso

Arquivos de Neuro-Psiquiatria, 2007
INTRODUCTION: Septo-optic dysplasia (De Morsier syndrome) is defined as the association between optic nerve hypoplasia, midline central nervous system malformations and pituitary dysfunction.
Mônica Jaques Spinosa, Paulo Breno Noronha Liberalesso, Simone Carreiro Vieira, Alfredo Löhr Júnior   +3 more
doaj   +1 more source

Ocular Manifestations of Septo-optic Dysplasia [PDF]

, 2023
Background: Septo-optic dysplasia (SOD) is a congenital deformity of the brain which can result in neurologic, systemic, and physical malformation.Due to the proximity of these deformities to the optic chiasm and optic nerves, ocular manifestations are ...
Tucker Christiansen,, Tiffany, OD, Cappelli, OD, Rena, Vance Taylor,, Danielle, OD   +2 more
core   +1 more source

Electroconvulsive Therapy of a Depressed Patient with Septo-Optic Dysplasia

, 2009
We present a case of refractory depression with septo-optic dysplasia who experienced transient delirium and had limited improvement of depressive symptoms in response to ECT. Unlike other septo-optic dysplasia cases, this patient only had depression and
NI, HSING-CHANG;LIU, HON-MAN;TSENG, MEI -CHIH;TSENG, MEI-CHIH, 倪信章;廖漢文;曾美智   +1 more
core   +1 more source

Is there an encephalographic trait to septo-optic dysplasia? (de Morsier syndrome) [PDF]

Romanian Journal of Neurology, 2014
Objectives. Septo-optic dysplasia (SOD), also known as de Morsier syndrome is a rare con-genital syndrome involving variable midline brain structures, characterized by visual impairment, pituitary deficiencies and specific brain abnormalities (especially
Oana Tarta-Arsene, Madalina Leanca, Mona Gandea, Dana Craiu   +3 more
doaj   +1 more source

Displasia septo-óptica: um relato de caso sobre síndrome de Morsier [PDF]

Residência Pediátrica
INTRODUCTION: Septo-optic dysplasia, also known as Morsier Syndrome, is considered a rare congenital disease, with an estimated incidence of 1 in every 100,000 live births and is characterized by the triad: midline defects (corpus callosum agenesis and ...
Marina Bonagurio Julio, Brenna Marques Amorim Tenorio, Helen Vinco Secchin, Juliana Brizzante Ferreira, Marina Dall'Ara de Souza   +4 more
doaj   +1 more source

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9, PKD1L1, MMP21, and GDF1

Clinical Genetics, Volume 110, Issue 5, Page 574-583, November 2026.
Integrating trio‐based genomic sequencing with detailed clinical evaluation across seven French–Vietnamese heterotaxy cases alongside a review of 108 published patients reveals strong genotype–phenotype correlations. Variants in DNAH9, PKD1L1, MMP21, and GDF1 define a broad spectrum from isolated situs inversus to complex conotruncal heart defects and ...
Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do, Thi Thanh Thuy Le, Marjolaine Gauthier, Charlotte Dubucs, Jeremie Mortreux, Pauline Monin, Nicolas Chatron, Françoise Devillard, Charles Coutton, Véronique Satre, Radu Harbuz, William Dufour, Louis Januel, Tristan Celse, Clara Paris, Auragen Consortium, Le Tuyet Mai Tran, Huu Tung Trinh, Pierre‐Simon Jouk, Ba Luu Truong, Thi Kim Nhi Nguyen, Julien Thevenon   +23 more
wiley   +1 more source

Undiagnosed complex neurological malformation in a geriatric patient presenting with seizures

Radiology Case Reports
Atretic cephaloceles, grey matter heterotopia, and septo-optic dysplasia are uncommon congenital cerebral malformations commonly diagnosed in children. The case is a rare one in which atretic parietal cephalocele, grey matter heterotopia, and septo-optic
Prasad Desale, MBBS, Rajasbala Dhande, Phd, MD, MBBS, Pratapsingh Parihar, Phd, MD, MBBS, Gaurav Mishra, Phd, MD, MBBS, Shubhi Gaur, MBBS   +4 more
doaj   +1 more source

Antenatal diagnosis of absence of septum pellucidum

Clinical Case Reports, 2020
The absence of septum pellucidum (ASP) is a rare disease, which affects the structure of the brain. It is either isolated or associated with various congenital brain malformations.
Imane Ben M'Barek, Mikael Tassin, Agnes Guët, Isabelle Simon, Valerie Mairovitz, Laurent Mandelbrot, Olivier Picone   +6 more
doaj   +1 more source

Challenges in Diagnosing Central Adrenal Insufficiency in Children: Cortisol‐Stimulating Tests are Safe and Often Required

Clinical Endocrinology, Volume 105, Issue 4, Page 408-415, October 2026.
ABSTRACT Introduction The accuracy and safety of cortisol‐stimulating tests (CSTs) for assessing hypothalamic–pituitary–adrenal (HPA) axis integrity, including the diagnosis of central adrenal insufficiency (CAI), in children remain uncertain. Although these tests can simultaneously evaluate cortisol and growth hormone secretion, the present study ...
Mariana Peduti Halah, Ana Carolina Maia Teodózio, Davi Casale Aragon, Paula Conde Lamparelli Elias, Margaret de Castro, Ayrton Custodio Moreira, Sonir Rauber Antonini   +6 more
wiley   +1 more source

Septo-Optic Dysplasia: A Case Series of 33 Patients

, 2023
The objective of this study was to record the clinical, neuro-radiological, and systemic features of patients with septo-optic dysplasia (SOD). A retrospective review of patients was conducted to identify patients with features consistent with SOD over a
Manjushree Bhate (17403013), Rohan Nalawade (17403010)   +1 more
core   +1 more source