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https://www.readbyqxmd.com/read/27858370/intracranial-hypertension-in-cystinosis-is-a-challenge-experience-in-a-children-s-hospital
#1
Nieves Martín-Begué, Silvia Alarcón, Charlotte Wolley-Dod, Luis Enrique Lara, Álvaro Madrid, Paola Cano, Mireia Del Toro, Gema Ariceta
BACKGROUND: Cystinosis is a rare systemic lysosomal disease affecting mainly the kidney and eye. Ocular involvement in cystinosis is universal being the presence of cystine crystals in the cornea a diagnostic criterion and one of the earliest manifestations of the disease. Neuro-ophthalmologic manifestations are considered a rare and late complication in these patients. The aim of this article is to report the unexpectedly high incidence of intracranial hypertension in children with cystinosis at our centre...
November 18, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27857798/not-all-cases-of-nyctalopia-are-benign-unusual-and-serendipitous-presentation-of-arnold-chiari-type-1-malformation-at-a-pediatric-tertiary-care-center
#2
Kailash Chandra Patra, Abhijeet Prakash Kirtane
The Arnold-Chiari Type 1 malformation (CM1) is a rare congenital abnormality characterized by ectopia or caudal herniation of the cerebellar tonsils through the foramen magnum into the cervical spine, resulting in crowding at the craniocervical junction. It seldom presents in childhood with symptoms and a normal neurological examination. More typically, CM1 presents in young adult women with neurological symptoms including a headache, cervical pain, cranial nerve palsies, neurosensory deficit, and ataxia. Ocular manifestations associated with Chiari I include third and sixth cranial nerve paresis and convergence/divergence abnormalities...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27823711/central-sleep-apnea-in-children-experience-at-a-single-center
#3
Orlane Felix, Alessandro Amaddeo, Jorge Olmo Arroyo, Michel Zerah, Stephanie Puget, Valerie Cormier-Daire, Genevieve Baujat, Graziella Pinto, Marta Fernandez-Bolanos, Brigitte Fauroux
OBJECTIVE: Central sleep apnea (CSA) syndromes are rare in children and data in children over one year of age are scarce. The aim of the study was to describe the sleep characteristics, underlying disorders, management, and outcome of children with CSA. PATIENTS/METHODS: A retrospective chart review of all children >1 year of age, diagnosed with CSA on a laboratory sleep study during a 20-month period, was performed. CSA was defined by a central apnea index (CAI) >5 events/h...
September 2016: Sleep Medicine
https://www.readbyqxmd.com/read/27790480/bilateral-vocal-cord-palsy-with-arnold-chiari-malformation-a-rare-case-series
#4
Nikhil Arora, Ruchika Juneja, Ravi Meher, Eishaan K Bhargava
Stridor in paediatric age group is not an uncommon presentation to the ENT emergency. The range of differential diagnosis is vast. The presentation may vary from noisy breathing to severe respiratory distress and apnea. Early and meticulous diagnosis is crucial for the management as the condition may be life threatening. We report a rare case series of 3 infants with Arnold Chiari Malformation who presented to the hospital with stridor and were diagnosed with bilateral vocal cord palsy. These 3 infants had similar underlying neurological condition with hydrocephalus and raised intracranial pressure...
September 2016: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/27777155/shunting-of-syringomyelic-cavities-by-using-a-myringotomy-tube-technical-note-and-long-term-results
#5
Dorota Tassigny, Basel Abu-Serieh, Daniella Tsague Fofe, Jacques Born, Germain Milbouw
BACKGROUND AND IMPORTANCE: Syringomyelia is a progressive cerebrospinal fluid disorder which can lead to irreversible spinal cord injury. To date, the optimal management of syringomyelic cavities remains controversial. Multiple studies have emphasized the importance of the cranio-cervical decompression or shunting procedures. However, excepted for syrinx related to Arnold Chiari malformation, nearly half of patients need to be re-operated. The purpose of the present study was to describe a simple and efficient surgical technique and to report the long-term radio-clinical outcomes...
October 21, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27729957/fetal-central-nervous-system-anomalies-detected-by-magnetic-resonance-imaging-a-two-year-experience
#6
Sepideh Sefidbakht, Sakineh Dehghani, Maryam Safari, Homeira Vafaei, Maryam Kasraeian
BACKGROUND: Magnetic resonance imaging (MRI) is gradually becoming more common for thorough visualization of the fetus than ultrasound (US), especially for neurological anomalies, which are the most common indications for fetal MRI and are a matter of concern for both families and society. OBJECTIVES: We investigated fetal MRIs carried out in our center for frequency of central nervous system anomalies. This is the first such report in southern Iran. MATERIALS AND METHODS: One hundred and seven (107) pregnant women with suspicious fetal anomalies in prenatal ultrasound entered a cross-sectional retrospective study from 2011 to 2013...
August 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/27673019/poster-262-autonomic-dysreflexia-associated-with-an-arnold-chiari-1-malformation-a-case-report
#7
Zachary C Fausel, Dale C Strasser
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/27489065/urgent-decisions-and-a-tight-spot-embolic-infarction-of-a-herniated-cerebellar-tonsil
#8
Ruth Mc Donagh, David Bradley, Joseph Augustine Harbison
A previously well 30-year-old woman presented at 17:30 with a sudden onset of dizziness, ataxia and headache. She was initially investigated with a CT scan of the brain and lumbar puncture, which yielded no diagnosis. Subsequent MR scan revealed multiple posterior circulation infarcts, along with a previously undiagnosed Arnold-Chiari 2 malformation with an associated syrinx of her cervical and thoracic spine. The infarct involved one of the herniated cerebellar tonsils. Oedema of an infarct in the herniated tonsils caused compression of the medulla at the foramen magnum, with associated neurological symptoms including Lhermitte's phenomenon and headache on valsalva manoeuvre...
2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27418995/unusual-ventilatory-response-to-exercise-in-patient-with-arnold-chiari-type-1-malformation-after-posterior-fossa-decompression
#9
Keely Smith, Ana M Gomez-Rubio, Tomika S Harris, Lauren E Brooks, Ricardo A Mosquera
We present a case of a 17-year-old Hispanic male with Arnold-Chiari Type 1 [AC-Type 1] with syringomyelia, status post decompression, who complains of exercise intolerance, headaches, and fatigue with exertion. The patient was found to have diurnal hypercapnia and nocturnal alveolar hypoventilation. Cardiopulmonary testing revealed blunting of the ventilatory response to the rise in carbon dioxide (CO2) resulting in failure of the parallel correlation between increased CO2 levels and ventilation; the expected vertical relationship between PETCO2 and minute ventilation during exercise was replaced with an almost horizontal relationship...
2016: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/27399450/171%C3%A2-resurgery-in-craniovertebral-junction-abnormalities
#10
Pavaman Pandit Sindgikar, Kuntal Kanti Das, Awadesh K Jaiswal, Rabi Narayan Sahu, Arun K Srivastava, Anant Mehrotra, Jayesh Chunilal Sardhara, Kamlesh Singh Bhaisora, Sanjay Behari
INTRODUCTION: Surgery for craniovertebral junction (CVJ) abnormalities like atlantoaxial dislocation (AAD) with or without basilar invagination (BI) and/or with or without associated Arnold-Chiari malformation (ACM) cause high cervical myelopathy. Occasionally, mechanical factors such as inadequate canal decompression, torticollis, and/or scoliosis may lead to lack of improvement following the primary surgery. Also, implant-related factors requiring its revision/removal or surgical site infections may cause patient to undergo resurgery...
August 2016: Neurosurgery
https://www.readbyqxmd.com/read/27315431/bilateral-vocal-cord-palsy-causing-stridor-as-the-only-symptom-of-syringomyelia-and-chiari-i-malformation-a-case-report
#11
Saif Yousif, Mark Walsh, Hannah Burns
INTRODUCTION: Bilateral vocal cord palsy is a condition which has many causes (Gupta et al., 2012) [1]. Syringomyelia is an uncommon condition which describes the formation of fluid filled cavity, occupying the spinal cord (Chang, 2003) [2]. It rarely manifests itself as subacute onset of stridor. PRESENTATION OF CASE: We present the case of a three year old female who presented for evaluation of her speech and language delay, when incidentally it was made note of her loud breathing which had previously been managed as bronchiolitis by her general practitioner...
2016: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/27299074/bilateral-femoral-neck-fractures-in-a-young-patient-suffering-from-hypophosphatasia-due-to-a-first-time-epileptic-seizure
#12
N Sharma, E Bache, T Clare
INTRODUCTION: We report a case of an adolescent sustaining bilateral femoral neck fractures due to a first time epileptic seizure, as a result of expansion of his known syrinx. CASE REPORT: A 19-year-old patient suffering from hypophosphatasia (HPP), Arnold-Chiari malformation, and a ventriculoperitoneal shunt sustained a trivial fall with profound pain and an inability to mobilize. Radiographs demonstrated a right-sided Garden-4 femoral neck and left-sided multi-fragmentary intracapsular/extracapsular fractures...
July 2015: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/27258364/craniocervical-spinal-instability-after-type-1-arnold-chiari-decompression-a-case-report
#13
Gaston O Camino Willhuber, Santiago T Bosio, Miguel H Puigdevall, Carolina Halliburton, Carlos A Sola, Ruben A Maenza
To present and describe an unusual case of spinal instability after craniocervical spinal decompression for a type-1 Chiari malformation. Type-1 Chiari malformation is a craniocervical disorder characterized by tonsillar displacement greater than 5 mm into the vertebral canal; posterior fossa decompression is the most common surgical treatment for this condition. Postoperative complications have been described: cerebrospinal fluid leak, pseudomeningocele, aseptic meningitis, wound infection, and neurological deficit...
January 2017: Journal of Pediatric Orthopedics. Part B
https://www.readbyqxmd.com/read/27149441/arnold-chiari-malformation-with-sponastrime-spondylar-and-nasal-changes-with-striations-of-the-metaphyses-dysplasia-a-case-report
#14
Je Hoon Jeong, A Leum Lee, Sung Yoon Cho, Dong Kyu Jin, Soo-Bin Im
SPOndylar and NAsal changes, with STRIations of the Metaphyses (SPONASTRIME) dysplasia (SD) is a dwarfing autosomal recessive syndrome, characterized by a variety of clinical and radiographic features, which form the basis for diagnosis. We describe the presentation of an Arnold Chiari malformation in a patient with a clinical diagnosis of SD. The malformation was successfully treated by decompression of the foramen magnum and elevation of the cerebellum, with complete resolution of pain.We report a rare case of Arnold Chiari malformation in a patient presenting with clinical and radiographic features strongly suggestive of SD and be successfully treated...
May 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27141649/-a-destructive-shoulder-arthropathy
#15
L Ouhadi, M Gaudreault, S Mottard, Ph Gillet
Charcot arthropathy is a progressive, chronic and degenerative destruction of one or several joints caused by a central or peripheral neurological disorder. Approximately 25 % of the patients with syringomyelia develop this arthropathy located in the upper limb in 80 % of the cases. An early etiological diagnosis is essential to begin the treatment of the underlying neurological disorder. Afterwards, a conservative treatment of the arthropathy is preferred. We report the story of a patient with an arthropathy of the left shoulder due to Arnold-Chiari's malformation of type I with syringomyelia...
February 2016: Revue Médicale de Liège
https://www.readbyqxmd.com/read/27121616/the-prevalence-of-intraspinal-anomalies-in-infantile-and-juvenile-patients-with-presumed-idiopathic-scoliosis-a-mri-based-analysis-of-504-patients
#16
Wen Zhang, Shifu Sha, Leilei Xu, Zhen Liu, Yong Qiu, Zezhang Zhu
BACKGROUND: Though several studies have reported the incidence of intraspinal neural axis abnormalities in infantile and juvenile "presumed idiopathic" scoliosis, there has been a varying prevalence ranging from 11.1 to 26.0% based on a limited sample size. Therefore, such inconclusive findings have resulted in some questions on the MRI-associated role in the management of these patients. We aimed to investigate the prevalence and distribution of intraspinal anomalies in the infantile and juvenile patients with "presumed idiopathic" scoliosis and to explore the radiographic and clinical indicators with large sample size...
2016: BMC Musculoskeletal Disorders
https://www.readbyqxmd.com/read/26980639/chiari-type-1-malformation-in-neurofibromatosis-type-1-experience-of-a-center-and-review-of-the-literature
#17
E Miraglia, G Fabbrini, C Di Biasi, C Iacovino, G Ferrazzano, G Gualdi, S Calvieri, S Giustini
OBJECTIVE: To evaluate the possible correlation and the true incidence between Neurofibromatosis type 1 and Arnold-Chiari malformation type I. MATERIALS AND METHODS: We reviewed all clinical charts, neurological consultations and MRI scans of 428 NF1 patients followed by 1994 to 2014 in our Department. NF1 patients in our clinic are seen usually every year by both the dermatologist and the neurologist. All patients also undergo a brain and spinal cord with the same 1...
2016: La Clinica Terapeutica
https://www.readbyqxmd.com/read/26815847/-inferior-vertical-nystagmus-is-magnetic-resonance-imaging-mandatory
#18
Jonathan Esteban-Sánchez, Almudena Rueda-Marcos, Ricardo Sanz-Fernández, Eduardo Martín-Sanz
INTRODUCTION: The presentation of a down-beating nystagmus force to discard vascular pathology of brain and cervical joint with magnetic resonance imagine (MRI). Recent studies support the low profitability of this study and is subjected that this oculomotor sign has a peripheral origin especially when the patient has a benign paroxysmal positional vertigo (BPPV) with affection of the superior semicircular canal. AIM: To evidence the profitability of MRI in a population of patients with positional down-beating nystagmus...
February 1, 2016: Revista de Neurologia
https://www.readbyqxmd.com/read/26655060/-analysis-of-fetal-posterior-fossa-during-the-first-trimester-ultrasound-scan
#19
P Mace, E Quarello
The diagnosis of an abnormal fetal posterior fossa is usually done during the second trimester scan. However, some forms of open spina bifida with Arnold-Chiari malformation can be detected from the first trimester ultrasound with a precise examination of the posterior fossa and intracranial translucency. Furthermore, other abnormalities of the posterior fossa such as cystic malformations also seem to be accessible to early detection. This work detailed the possible usual and unusual aspects of the posterior fossa individualized during the first trimester ultrasound scan...
January 2016: Gynécologie, Obstétrique & Fertilité
https://www.readbyqxmd.com/read/26628487/chronic-csf-leak-causing-syringomyelia-and-pseudo-arnold-chiari-malformation
#20
Ryan M Smith, Ivan Garza, Carrie E Robertson
No abstract text is available yet for this article.
December 1, 2015: Neurology
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