keyword
https://read.qxmd.com/read/38196410/dandy-walker-syndrome-delayed-acute-presentation-with-unusual-symptoms
#21
Fakhar Hayat, Mohamed Ismail, Muhanned M Alqhtani, Talal Almayman, Noor Sardar, Abdullah Ismaeel, Mohammed AlJohani, Rayan S Alruwaili
Dandy-Walker syndrome (DWS) is a rare congenital brain malformation defined by the presence of an expanded posterior fossa, full or partial absence of the cerebellar vermis, and a cystic expansion of the fourth ventricle. We report an 18-month-old girl with DWS presenting with atypical clinical manifestations and unusual symptoms. She initially presented with persistent vomiting and abdominal pain for four days, not responding to antiemetic medication. In addition, she was found to have abnormal postural arching of the back, extension of the lower limbs, and neck extension...
December 2023: Curēus
https://read.qxmd.com/read/38153449/diffusion-tensor-imaging-technique-delineating-the-prognosis-for-cerebellar-mutism-in-posterior-fossa-tumors-a-new-tool
#22
REVIEW
V D Sinha, Patni Ankur, Jain Gaurav
AIM: Cerebellar mutism syndrome (CMS) is a morbid complication of posterior fossa surgery in children. This review focuses on the current understanding of pathophysiology in the white matter tracts (WMT) using diffusion tensor imaging (DTI). MATERIAL AND METHODS: A series of 38 patients operated on for posterior fossa tumors in our institute between December 2019 till May 2021 were evaluated neurologically along with characteristics of mutism and DTI imaging (fractional anisotropy) in preoperative and postoperative periods...
2023: Acta Neurochirurgica. Supplement
https://read.qxmd.com/read/38090676/delayed-presentation-of-popliteal-artery-injury-after-salter-harris-iii-proximal-tibia-fracture
#23
Alexandra H Seidenstein, Timothy W Torrez, Jacob A Garcia, Shadi K Awad, Henry Debell, Shawn R Gilbert, Kevin A Williams
INTRODUCTION: Proximal tibia physeal fractures in children are not very common but can be dangerous because they can harm popliteal fossa structures, especially the popliteal artery. Popliteal artery injuries (PAI) are most commonly the result of trauma to the lower extremity, including blunt force, hyperextension injuries, complex fractures, and knee dislocations that can compromise popliteal neurovascular structures. Case Presentation. A 14-year-old boy presents to the emergency department after being transferred from an outside hospital 24 hours after a left lower extremity hyperextension injury...
2023: Case Reports in Orthopedics
https://read.qxmd.com/read/38079480/postoperative-cerebellar-mutism-syndrome-is-an-acquired-autism-like-network-disturbance
#24
JOURNAL ARTICLE
Hrishikesh Suresh, Benjamin R Morgan, Karim Mithani, Nebras M Warsi, Han Yan, Jürgen Germann, Alexandre Boutet, Aaron Loh, Flavia Venetucci Gouveia, Julia Young, Jennifer Quon, Felipe Morgado, Jason Lerch, Andres M Lozano, Bassam Al-Fatly, Andrea Kühn, Suzanne Laughlin, Michael C Dewan, Donald Mabbot, Carolina Gorodetsky, Ute Bartels, Annie Huang, Uri Tabori, James T Rutka, James M Drake, Abhaya V Kulkarni, Peter Dirks, Michael D Taylor, Vijay Ramaswamy, George M Ibrahim
BACKGROUND: Cerebellar mutism syndrome (CMS) is a common and debilitating complication of posterior fossa tumour surgery in children. Affected children exhibit communication and social impairments that overlap phenomenologically with subsets of deficits exhibited by children with Autism spectrum disorder (ASD). Although both CMS and ASD are thought to involve disrupted cerebro-cerebellar circuitry, they are considered independent conditions due to an incomplete understanding of their shared neural substrates...
December 11, 2023: Neuro-oncology
https://read.qxmd.com/read/38054560/monogenic-conditions-and-central-nervous-system-anomalies-a-prospective-study-systematic-review-and-meta-analysis
#25
JOURNAL ARTICLE
Gillian V Blayney, Eoghan Laffan, Preethi A Jacob, Caitlin D Baptiste, Heinz Gabriel, Teresa N Sparks, Yuval Yaron, Mary E Norton, Karin Diderich, Yiming Wang, Karen Chong, David Chitayat, Neelam Saini, Shagun Aggarwal, Montse Pauta, Antoni Borrell, Kelly Gilmore, Natalie J Chandler, Stephanie Allen, Neeta Vora, Abdul Noor, Caitriona Monaghan, Mark D Kilby, Ronald J Wapner, Lyn S Chitty, Fionnuala Mone
OBJECTIVES: Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities. METHODS: Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model...
December 6, 2023: Prenatal Diagnosis
https://read.qxmd.com/read/38053652/dandy-walker-syndrome-associated-with-a-giant-occipital-meningocele-a-case-report-and-a-literature-review
#26
Ahmed Dheyaa Al-Obaidi, Ali Tarik Abdulwahid, Mustafa Najah Al-Obaidi, Abeer Mundher Ali, Hashim Talib Hashim
BACKGROUND: Dandy-Walker malformation or syndrome is the most common posterior fossa malformation. It is commonly associated with other congenital anomalies such as cardiac defects; however, association with a giant occipital meningocele is extremely rare, as only around 34 cases have been described. CASE DESCRIPTION: We report a case of a 2-month-old female infant who presented with a midline, gigantic mass in the back of the head. It was first discovered on a prenatal ultrasound...
December 2023: ENeurologicalSci
https://read.qxmd.com/read/38044394/posterior-reversible-encephalopathy-syndrome-and-acute-ischemic-stroke-an-underreported-association
#27
JOURNAL ARTICLE
Marialuisa Zedde, Ilaria Grisendi, Federica Assenza, Gabriele Vandelli, Manuela Napoli, Claudio Moratti, Franco Valzania, Rosario Pascarella
INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a rare and complex disorder with variable clinical presentation and a typical magnetic resonance imaging (MRI) pattern of vasogenic edema with typical and atypical locations. It is often triggered by other diseases and drugs and the most prototypical association is with persistently elevated arterial pressure values. Among the potential cerebrovascular complications, intracranial bleeding has been described, but ischemic stroke is uncommonly reported...
December 4, 2023: Neurological Sciences
https://read.qxmd.com/read/38013548/persistent-m%C3%A3-llerian-duct-syndrome-diagnosed-incidentally-a-case-report
#28
Nazish Fatima, Zareen Kiran, Khalil Ullah Shabbir, Akhtar Ali Baloch
Persistent Müllerian Duct syndrome is a rare male disorder of sexual development. The phenotypically and genotypically male patient presents with female internal organs (i.e., uterus, cervix, fallopian tubes and upper part of vagina) due to deficiency of anti-mullerian hormone or insensitivity of tissues to Anti Mullerian Hormone. We present a 19 year old male who came with complaint of right iliac fossa pain. He was investigated for acute appendicitis and on imaging, he was diagnosed to have bilateral cryptorchidism with rudimentary uterus...
November 2023: JPMA. the Journal of the Pakistan Medical Association
https://read.qxmd.com/read/38013309/novel-mutation-in-rpgrip1l-gene-causing-joubert-syndrome-a-case-report
#29
JOURNAL ARTICLE
Paola Andrea Duque-Cordoba, Lorena Diaz-Ordoñez, Juan David Gutierrez-Medina, Harry Pachajoa
INTRODUCTION: Joubert syndrome is a rare disease of genetic origin with autosomal recessive inheritance and extreme genetic heterogeneity with more than 40 causative genes. Joubert syndrome 7 is caused by mutations in the RPGRIP1L gene. PATIENT CONCERNS: Our report describes a pediatric patient with clinical features compatible with JS type 7 such as hypotonia, developmental delay and aplasia of the cerebellar vermis. DIAGNOSIS: The clinical features and the MRI of the head and neck which showed alterations at the level of the posterior fossa, with absence of the vermis and horizontal disposition of the cerebellar peduncles, were compatible with Joubert syndrome...
November 24, 2023: Medicine (Baltimore)
https://read.qxmd.com/read/38011698/cranial-vault-suspension-for-basilar-invagination-in-patients-with-open-cranial-sutures-technique-and-long-term-follow-up-illustrative-case
#30
JOURNAL ARTICLE
Christopher B Cutler, Daphne Li, John R Ruge
BACKGROUND: Hajdu-Cheney syndrome (HCS) is an extremely rare genetic disorder characterized by severe osteoporosis, scoliosis, and persistent open cranial sutures (POCSs). Neurological complications include hydrocephalus, Chiari I malformations, and basilar invagination (BI). Surgical intervention in HCS is challenging due to severe osteoporosis, ligamentous laxity, POCSs, and extreme skeletal deformities. Herein, the authors present a case of BI repair in a patient with HCS and POCSs, requiring a novel technique of cranial vault suspension, with long-term follow-up...
November 27, 2023: J Neurosurg Case Lessons
https://read.qxmd.com/read/38000061/application-of-the-rotterdam-postoperative-cerebellar-mutism-syndrome-prediction-model-in-patients-undergoing-surgery-for-medulloblastoma-in-a-single-institution
#31
JOURNAL ARTICLE
Savannah Bush, Paul Klimo, Arzu Onar-Thomas, Jie Huang, Frederick A Boop, Amar Gajjar, Giles W Robinson, Raja B Khan
OBJECTIVE: Postoperative cerebellar mutism syndrome (CMS) develops in up to 40% of children with medulloblastoma. The Rotterdam model (RM) has been reported to predict a 66% risk of CMS in patients with a score of ≥ 100. The aim of this study was to retrospectively apply the RM to an independent cohort of patients with newly diagnosed medulloblastoma and study the applicability of the RM in predicting postoperative CMS. METHODS: Participants had to have their first tumor resection at the authors' institution and be enrolled in the SJMB12 protocol (NCT01878617)...
November 24, 2023: Journal of Neurosurgery. Pediatrics
https://read.qxmd.com/read/37999915/comparing-1-5%C3%A2-t-and-3-0%C3%A2-t-mr-data-for-3d-visualization-of-neurovascular-relationships-in-the-posterior-fossa
#32
JOURNAL ARTICLE
Peter Hastreiter, Olga Maliachova, Rudolf Fahlbusch, Arnd Doerfler, Michael Buchfelder, Ramin Naraghi
BACKGROUND: Neurovascular relationships in the posterior fossa are more frequently investigated due to the increasing availability of 3.0 Tesla MRI. For an assessment with 3D visualization, no systematic analyzes are available so far and the question arises as to whether 3.0 Tesla MRI should be given preference over 1.5 Tesla MRI. METHODS: In a prospective study, a series of 25 patients each underwent MRI investigations with 3D-CISS and 3D-TOF at 1.5 and 3.0 Tesla...
November 24, 2023: Acta Neurochirurgica
https://read.qxmd.com/read/37941619/a-large-growing-occipital-meningocele-with-dandy-walker-syndrome-a-case-report-and-review-of-the-literature
#33
Shirabe Matsumoto, Shinji Iwata, Atsuko Harada, Hikaru Imon, Toshimoto Seno, Hideaki Watanabe, Takeharu Kunieda
BACKGROUND: Dandy-Walker syndrome (DWS) is a well-known developmental anomaly. An occipital meningocele (OMC) is recognized as a malformation that is relatively often associated with DWS, but the association of DWS with OMC has been reported in approximately 40 cases. We present herein a rare clinical course of DWS with OMC, in which the sac was small at birth and became progressively larger. CASE DESCRIPTION: A 5-day-old baby boy was referred to our hospital due to OMC...
2023: Surgical Neurology International
https://read.qxmd.com/read/37933337/diagnosis-and-treatment-of-dandy-walker-syndrome-with-two-types-of-ventriculoperitoneal-vp-shunts-a-case-report
#34
Mohammed Khaleel I Kh Almadhoun, Abdallah Wasel Hattab, Nemer Nedal Alazzeh, Sufyan Taleb Aladwan, Osamah Ta'amneh
Dandy-Walker Syndrome (DWS) is a rare congenital neurological condition characterized by cerebellar and posterior fossa malformations, often presenting a variable clinical spectrum. Common complications include hydrocephalus, necessitating interventions like ventriculoperitoneal (VP) shunts, and endoscopic third ventriculostomy (ETV). We describe the case of a five-month-old infant conceived through in vitro fertilization (IVF), initially presenting with cold-like symptoms, later diagnosed with DWS. The patient underwent VP shunt placement for hydrocephalus management, with subsequent complications requiring shunt revisions and ETV...
October 2023: Curēus
https://read.qxmd.com/read/37917538/shoulder-and-elbow-injuries-in-adult-overhead-throwers-imaging-review
#35
JOURNAL ARTICLE
Paola Kuenzer Goes, Dyan V Flores, Alameen Damer, Brady K Huang
Overhead throwing, particularly in baseball, subjects the shoulder and elbow to various unique injuries. Capsular contracture following repetitive external rotation shifts the humeral head posterosuperiorly, predisposing to glenohumeral internal rotation deficit (GIRD), Bennett, posterosuperior internal impingement (PSI), and superior labrum anterior-posterior (SLAP) lesions. GIRD represents loss of internal rotation at the expense of external rotation. Bennett lesion represents ossification of the posteroinferior glenohumeral ligament due to repetitive traction...
December 2023: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://read.qxmd.com/read/37892831/chiari-syndrome-advances-in-epidemiology-and-pathogenesis-a-systematic-review
#36
REVIEW
Raquel Rodríguez-Blanque, Cristina Almazán-Soto, Beatriz Piqueras-Sola, Juan Carlos Sánchez-García, Andrés Reinoso-Cobo, María José Menor-Rodríguez, Jonathan Cortés-Martín
Arnold Chiari syndrome is a rare congenital disease of unknown prevalence and whose origin is still under study. It is encompassed within the posterior cranial malformations, showing a wide spectrum of symptomatology that can range from severe headache, dizziness, and paresthesia to complete asymptomatology. It is for this reason that early diagnosis of the disease is difficult, and it is usually diagnosed in adolescence. Treatment is based on remodeling and decompression of the malformed posterior cranial fossa, although the risk of residual symptoms after surgery is high...
October 23, 2023: Journal of Clinical Medicine
https://read.qxmd.com/read/37880936/case-report-5-cases-of-variant-hypoplastic-left-heart-syndrome-diagnosed-on-prenatal-fetal-ultrasound
#37
JOURNAL ARTICLE
Adhi Pribadi, Amillia Siddiq, Annisa Dewi Nugrahani, Dhanny Primantara Johari Santoso
BACKGROUND Hypoplastic left heart syndrome (HLHS) is a complex left-sided obstructive congenital cardiac condition with several variants. This report is of 5 cases with varying morphology of HLHS diagnosed by fetal prenatal ultrasound at the 4-chamber view (4CV) level. CASE REPORT Five cases were referred by obstetrics and gynecology specialists with preliminary information on visible congenital abnormalities in the third trimester. Fetal echocardiography showed that several morphological variants of HLHS were found...
October 26, 2023: American Journal of Case Reports
https://read.qxmd.com/read/37877290/imaging-of-congenital-and-developmental-cystic-lesions-of-the-brain-a-narrative-review
#38
REVIEW
Eliza T Firn, Hector H Garcia, Otto Rapalino, Anna M Cervantes-Arslanian
INTRODUCTION: Congenital and developmental intracranial cysts represent a large heterogenous group with varied presentations and etiologies. They can range from normal variants to pathologic lesions often associated with known congenital syndromes or acquired insults. While some are incidentally found, others are symptomatic or may become symptomatic over time. The preferred type of neuroimaging for timely diagnosis helps determine appropriate management and treatment, if indicated. AREAS COVERED: In this narrative review article, authors present a comprehensive description of developmental cystic lesions...
October 25, 2023: Expert Review of Neurotherapeutics
https://read.qxmd.com/read/37857539/sacral-ependymoma-presents-20-years-after-initial-posterior-fossa-lesion
#39
JOURNAL ARTICLE
Lynden Guy Nicely, Mark Baxter, Sourav Banerjee, Hannah Lord
Posterior fossa ependymomas (PFEs) are designated histologically as low-grade neoplasms. Despite being characterised as benign, cases of metastasis have been reported only a few times with the patients concurrently diagnosed with the primary tumour. Interval drop metastasis or spontaneous second distal tumours are extremely rare and, in most cases, are diagnosed within a few months of primary tumour resection. Here, we report a patient with a grade 2 paediatric PFE exhibiting a 20-year interval to a second sacral ependymoma...
October 19, 2023: BMJ Case Reports
https://read.qxmd.com/read/37800226/how-the-inflamed-skull-box-might-ruin-the-cerebello-cerebral-social-repertoire-imaging-testing-rescuing-with-currents
#40
JOURNAL ARTICLE
Gottfried R S Treviranus
Nascent cerebellar neuropsychiatry is rewriting complex human relations. In daily practice this sheds light on subsets of therapy-resistant patients, who feel hampered by a lack of skills in predictively presensing the trajectories to where especially their interpersonal appropriations might end up. Humans affected by "dysmetric" social phobia often lead minimal lives, strongly dislike exposition, suffer fatiguability also from immune dysfunctions, and anhedonia. In social dysmetria especially on the cerebellar cortex`s both lateralmost Crus-II (Van Overwalle) seem damaged, the left Crus-I may add agentic failure (Guell)...
October 2023: Psychiatria Danubina
keyword
keyword
65642
2
3
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.