Results 51 to 60 of about 21,399,247 (215)

Idiopathic intracranial hypertension in a patient with Chiari I malformation

, 2015
Recibido 09 diciembre 2013, Aceptado 08 abril 2014Caso clínico: mujer de 22 años que consultó por cefalea y disminución de la visión. Presentaba papiledema asimétrico y, en las pruebas de imagen, un descenso amigdalar de 6mm, siendo diagnosticada de ...
Gegúndez Fernández, José Antonio, Benítez Del Castillo Sánchez, José Manuel, Vinuesa Silva, Josefa María, Porta Etessam, Mariano Jesús, Díaz Valle, David, García Sánchez, Julián, Santos Bueso, Enrique Miguel   +6 more
core   +1 more source

An Unusual Case of Cerebellar Tonsillar Descent till C7 Vertebrae in a Case of Chiari Malformation with Meningomyelocele

Indian Journal of Neurosurgery
Arnold–Chiari or Chiari malformations are a group of posterior fossa malformations that include the pons, medulla, and cerebellum. This group of disorders may consist of associated abnormalities like myelomeningocele and encephalocele.
Abhijit Acharya, A. K. Mahapatra, Soubhagya Tripathy, Souvagya Panigrahi, Rama Chandra Deo, Satya Bhusan Senapati, Mehnaj Begum   +6 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Familial Chiari malformation: case series

, 2011
Chiari malformations (Types I–IV) are abnormalities of the posterior fossa that affect the cerebellum, brainstem, and the spinal cord with prevalence rates of 0.1%–0.5%.
Jean-Valery C. E. Coumans, Brian P. Walcott, Kristopher T. Kahle, Benjamin D. Schanker, Yan Michael Li, Brian V. Nahed   +5 more
core   +1 more source

Chiari I Malformation Associated with Turner Syndrome

, 2017
Turner syndrome (TS) is a rare genetic disease due to the absence of one X chromosome. Patients with TS have more subtle neurological/neuropsychiatric problems, while headache is an uncommon clinical presentation which needs attention.
Jeevan S. Nair, Kamble Jayaprakash Harsha   +1 more
core   +1 more source

Diagnostic Yield of Brain MRI in Pediatric Short Stature: Hypothalamic–Pituitary Lesions and Incidental Findings in Real‐World Practice

Clinical Endocrinology, EarlyView.
ABSTRACT Background Brain MRI is widely performed in children with short stature or suspected growth hormone deficiency(GHD) to exclude hypothalamic–pituitary (HP) pathology, yet its diagnostic yield in routine practice is uncertain. We aimed to evaluate the prevalence, clinical significance, and distribution of HP and extrahypothalamic abnormalities ...
Mustafa Zubeidat, Tamer Sobeh, Shai Shrot   +2 more
wiley   +1 more source

Chiari I malformation with holocord syrinx [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 2007
We present the magnetic resonance imaging findings of a classical case of Chiari I malformation with holocord syringohydromyelia. The clinical presentation, imaging findings and treatment options are discussed.
J, Kumar, A, Kumar, S, Gupta
openaire   +4 more sources

Breaking Barriers for Cerebrospinal Fluid Flow in Chiari Malformation Type I: “What and How Much Is Enough?” A Retrospective Analysis of 74 Cases

Indian Journal of Neurosurgery, 2018
Introduction: Chiari malformation type I is a collection of hindbrain abnormalities, for which natural history of the disease process is not clear. The challenge is to identify which patients will benefit most from posterior fossa decompression.
Manish Jaiswal, Amit Raj Patil, Radhey Shyam Mittal   +2 more
doaj   +1 more source

Cough Syncope, a Rare Presenting Symptom of Chiari I Malformation and Atlanto-Occipital Assimilation

European Journal of Case Reports in Internal Medicine, 2020
Chiari I malformation and atlanto-occipital assimilation are both fairly uncommon conditions. Symptoms usually present during adolescence or adulthood, typically consisting of headache or neck pain.
Inês Carrilho Oliveira, Joana Carvalho, Luisa Oliveira   +2 more
doaj   +1 more source

Neurodevelopmental and neurological features in children with hypochondroplasia

Developmental Medicine &Child Neurology, EarlyView.
Abstract Aim To assess neurodevelopmental and neurological features, including neuroimaging abnormalities, in children with molecularly confirmed hypochondroplasia. Method A retrospective cohort study of children with molecularly confirmed hypochondroplasia seen at Evelina London Children's Hospital skeletal dysplasia service was performed.
Megan F. Baxter, Rhoda Akilapa, Alessandra Cocca, Melita D. Irving   +3 more
wiley   +1 more source