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https://www.readbyqxmd.com/read/28761539/extensive-intracranial-calcification-of-pseudo-torch-syndrome-with-features-of-dandy-walker-malformation
#1
Ashis Patnaik, Sudhansu Sekhar Mishra, Srikanta Das
Pseudo-TORCH syndrome or congenital infection-like syndrome is a group of conditions which resemble congenital infections such as those caused by toxoplasmosis, rubella, cytomegalovirus (CMV), herpes (TORCH) group of organisms, clinico-radiologically, but serological tests are negative for the organisms. One of the variety shows features such as microcephaly, extensive intracranial calcification showing gross resemblance to congenital CMV infection, making its other name as microcephaly intracranial calcification syndrome (MICS)...
July 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/28756061/assessment-of-acute-motor-deficit-in-the-pediatric-emergency-room
#2
REVIEW
Marcio Moacyr Vasconcelos, Luciana G A Vasconcelos, Adriana Rocha Brito
OBJECTIVES: This review article aimed to present a clinical approach, emphasizing the diagnostic investigation, to children and adolescents who present in the emergency room with acute-onset muscle weakness. SOURCES: A systematic search was performed in PubMed database during April and May 2017, using the following search terms in various combinations: "acute," "weakness," "motor deficit," "flaccid paralysis," "child," "pediatric," and "emergency". The articles chosen for this review were published over the past ten years, from 1997 through 2017...
July 27, 2017: Jornal de Pediatria
https://www.readbyqxmd.com/read/28752202/pediatric-central-nervous-system-hemangioblastomas-different-from-adult-forms-a-retrospective-series-of-25-cases
#3
Jian Cheng, Wenke Liu, Xuhui Hui, Si Zhang, Yan Ju
BACKGROUND: Pediatric hemangioblastomas are rare, and the clinical features, timing of surgical intervention, optimal treatment, and clinical outcomes are still unclear. METHODS: We performed a retrospective study of all patients with CNS hemangioblastomas who were treated at West China Hospital from January 2003 to March 2015. Patients under the age of 16 years were included in the study. The medical records of these patients were reviewed and statistically analyzed...
July 27, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28748851/insights-into-initial-demyelinating-episodes-of-central-nervous-system-during-puerperium
#4
Qian Wu, Bo Chen, Na Liu, Yang Hu, Chao Pan, Ping Zhang, Zhou-Ping Tang, Bi-Tao Bu
BACKGROUND: Inflammatory demyelinating disease of central nervous system (CNS) is an inflammatory disease characterized by a high childbearing female predominance. Labor-related alterations for postpartum demyelinating attacks are not entirely clear. This study aimed to summarize clinical features of female patients of reproductive age with initial CNS inflammatory demyelinating attacks during puerperium. METHODS: Fourteen female patients with initial demyelinating events during puerperium between January 2013 and December 2016 were retrospectively studied...
August 5, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28748449/first-report-of-persistent-dengue-1-associated-autoimmune-neurological-disturbance-neuromyelitis-optica-spectrum-disorder
#5
Marzia Puccioni-Sohler, Alice M M Ornelas, Andrea S de Souza, Mauro Jorge Cabral-Castro, Jessyca T M A Ramos, Carolina Rosadas, Maria Cecilia F Salgado, Alexandre A Castiglione, Fernando Ferry, Jose Mauro Peralta, Carolina Moreira Voloch, Amilcar Tanuri, Fernanda Tovar-Moll, Renato Santana Aguiar
Dengue virus (DENV) causes immune-mediated diseases. Neurological involvement represents a severe condition that is rarely observed in DENV-1 infection. Neuromyelitis optica (NMO)/NMO spectrum disorders (NMOSD) are idiopathic immune-mediated demyelinating syndromes of the central nervous system. We report a 17-year-old female with oligosymptomatic DENV-1 viremia, diagnosed as NMOSD. Magnetic resonance imaging showed spinal cord and brainstem lesions. Antibody for aquaporin 4 was negative. DENV-1 RNA infection was detected by serial RT-PCR and confirmed by phylogenetic analysis in serum...
July 26, 2017: Journal of Neurovirology
https://www.readbyqxmd.com/read/28744995/idiopathic-sudden-sensorineural-hearing-loss-and-m%C3%A3-ni%C3%A3-re-syndrome-the-role-of-cerebral-venous-drainage
#6
Marco Matteo Ciccone, Pietro Scicchitano, Michele Gesualdo, Francesca Cortese, Annapaola Zito, Fabio Manca, Barbara Boninfante, Pasquale Recchia, Domenico Leogrande, Domenico Viola, Marialessia Damiani, Valeria Gambacorta, Antonio Piccolo, Vincenzo De Ceglie, Nicola Quaranta
AIM: to evaluate the influence of cerebral venous drainage on the pathogenesis of idiopathic sudden sensorineural hearing loss (ISSHL) and Ménière syndrome (MD). METHODS: we enrolled 59 consecutive patients (32 males, mean age 53.05+15.37 years): 40 ISSHL and 19 MD. All underwent physical examination, biochemical evaluation (glycemic and lipid profile, viral serology, C reactive protein, etc), audiometric (tonal, vocal, vestibular evoked myogenic potentials and auditory brainstem response test) and impedentiometric examination...
July 26, 2017: Clinical Otolaryngology
https://www.readbyqxmd.com/read/28744893/tonotopic-alterations-in-inhibitory-input-to-the-medial-nucleus-of-the-trapezoid-body-in-a-mouse-model-of-fragile-x-syndrome
#7
Elizabeth A McCullagh, Ernesto Salcedo, Molly M Huntsman, Achim Klug
Hyperexcitability and the imbalance of excitation/inhibition are one of the leading causes of abnormal sensory processing in Fragile X syndrome (FXS). The precise timing and distribution of excitation and inhibition is crucial for auditory processing at the level of the auditory brainstem, which is responsible for sound localization ability. Sound localization is one of the sensory abilities disrupted by loss of the Fragile X Mental Retardation 1 (Fmr1) gene. Using triple immunofluorescence staining we tested whether there were alterations in the number and size of presynaptic structures for the three primary neurotransmitters (glutamate, glycine, and GABA) in the auditory brainstem of Fmr1 knockout mice...
July 26, 2017: Journal of Comparative Neurology
https://www.readbyqxmd.com/read/28740834/a-second-reported-malignancy-in-a-patient-with-morquio-syndrome
#8
REVIEW
Ameer Hamza, Sidrah Khawar, Ahmad Ibrahim, Jacob Edens, Crystal Lalonde, Robert D Danforth
Morquio syndrome is a rare lysosomal storage disease that affects multiple organ systems. However, it is rarely associated with malignancy. We present the case of a 30-year old man with Morquio syndrome associated with gastric adenocarcinoma. This case also demonstrates two other findings that have not been previously described in patients with Morquio syndrome - malrotation of brainstem and cerebellum, without clinical neurologic deficit, and persistence of fetal lobulation in the kidneys.
April 2017: Autopsy & case reports
https://www.readbyqxmd.com/read/28739363/involvement-of-cerebellum-in-leigh-syndrome-case-report-and-review-of-the-literature
#9
Nitish Chourasia, Rahmat B Adejumo, Rajan P Patel, Mary Kay Koenig
BACKGROUND: Leigh syndrome is an early-onset progressive neurodegenerative disorder typically involving lesions of the bilateral basal ganglia, thalami, and brainstem. Isolated involvement of the cerebellum is uncommon. PATIENT DESCRIPTION: We present a six-year-old boy with Leigh syndrome who presented with recurrent episodes of ataxia and dysarthria. He was diagnosed with Leigh syndrome at two years of age with bilateral basal ganglia lesions on brain magnetic resonance imaging (MRI)...
September 2017: Pediatric Neurology
https://www.readbyqxmd.com/read/28734692/respiratory-arrest-at-the-onset-of-idiopathic-childhood-occipital-epilepsy-of-gastaut
#10
Keiko Funata, Tatsuhiko Shike, Toshiki Takenouchi, Yukio Yamashita, Takao Takahashi
Occipital lobe epilepsy of childhood includes two entities: Panayiotopoulos syndrome in pre-school children, and idiopathic childhood occipital epilepsy of Gastaut (ICOEG) in school-age children. The typical initial manifestation of the former is vomiting, and that of the latter is visual hallucinations. Ictal cardiopulmonary arrest at initial presentation has been reported for Panayiotopoulos syndrome, but not for ICOEG. We document a 7-year-old previously healthy girl who experienced an acute elemental visual hallucination of seeing insects, followed by a new-onset generalized seizure...
July 19, 2017: Brain & Development
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#11
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28729852/towards-better-understanding-of-the-pathogenesis-of-neuronal-respiratory-network-in-sudden-perinatal-death
#12
REVIEW
Riffat Mehboob, Mahvish Kabir, Naseer Ahmed, Fridoon Jawad Ahmad
Sudden perinatal death that includes the victims of sudden infant death syndrome, sudden intrauterine death syndrome, and stillbirth are heartbreaking events in the life of parents. Most of the studies about sudden perinatal death were reported from Italy, highlighting two main etiological factors: prone sleeping position and smoking. Other probable contributory factors are prematurity, male gender, lack of breastfeeding, respiratory tract infections, use of pacifiers, infant botulism, extensive use of pesticides and insecticides, etc...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28726127/clippers
#13
REVIEW
Nicholas L Zalewski, W Oliver Tobin
PURPOSE OF REVIEW: Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently described treatable, inflammatory, brainstem predominant encephalomyelitis. The diagnosis of CLIPPERS is challenging without a specific biomarker, and thus it is important to consider if both the clinical and radiographic features are consistent with the diagnosis, or rather a disease mimicker. RECENT FINDINGS: Many patients with CLIPPERS-like lesions have been described in the literature with follow-up revealing a range of alternative diagnoses, such as malignancies, vasculitis, and other specific inflammatory diseases...
September 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28716249/high-risk-of-early-conversion-to-multiple-sclerosis-in-clinically-isolated-syndromes-with-dissemination-in-space-at-baseline
#14
Lorenzo Gaetani, Fulvia Fanelli, Ilenia Riccucci, Paolo Eusebi, Paola Sarchielli, Carlo Pozzilli, Paolo Calabresi, Luca Prosperini, Massimiliano Di Filippo
INTRODUCTION: Multiple sclerosis (MS) usually presents at onset with a clinically isolated syndrome (CIS). According to 2010 McDonald criteria, a diagnosis of MS can be made if CIS patients satisfy clinical/MRI criteria of both dissemination in time (DIT) and space (DIS). OBJECTIVE: The aim of this study was to analyze the follow-up data and possible prognostic factors of CIS patients satisfying DIS MRI criteria. PATIENTS AND METHODS: We performed a retrospective, multicenter study across 2 Italian centers...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28707717/an-autopsied-case-of-corticobasal-degeneration-presenting-with-frontotemporal-dementia-followed-by-myoclonus
#15
Yasushi Iwasaki, Keiko Mori, Masumi Ito, Maya Mimuro, Mari Yoshida
A Japanese woman developed frontotemporal dementia (FTD)-like symptoms of abnormal behavior, such as stereotyped behavior and disinhibition. The patient developed these symptoms at the age of 59 years, although aphasia symptoms were not apparent at early disease stages. Progressive parkinsonism was dominant on the left side, and conspicuous myoclonus was recognized in the late disease stage. MRI indicated severe, right side-dominant frontotemporal lobe atrophy with white matter degeneration. Brainstem and cerebellar atrophy were also observed...
July 14, 2017: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/28706504/hypertrophic-olivary-degeneration-and-palatal-or-oculopalatal-tremor
#16
REVIEW
Caroline Tilikete, Virginie Desestret
Hypertrophic degeneration of the inferior olive is mainly observed in patients developing palatal tremor (PT) or oculopalatal tremor (OPT). This syndrome manifests as a synchronous tremor of the palate (PT) and/or eyes (OPT) that may also involve other muscles from the branchial arches. It is associated with hypertrophic inferior olivary degeneration that is characterized by enlarged and vacuolated neurons, increased number and size of astrocytes, severe fibrillary gliosis, and demyelination. It appears on MRI as an increased T2/FLAIR signal intensity and enlargement of the inferior olive...
2017: Frontiers in Neurology
https://www.readbyqxmd.com/read/28694135/characteristics-of-pediatric-multiple-sclerosis-the-turkish-pediatric-multiple-sclerosis-database
#17
Ünsal Yılmaz, Banu Anlar, Kıvılcım Gücüyener
OBJECTIVE: To document the clinical and paraclinical features of pediatric multiple sclerosis (MS) in Turkey. METHODS: Data of MS patients with onset before age 18 years (n = 193) were collected from 27 pediatric neurology centers throughout Turkey. Earlier-onset (<12 years) and later-onset (≥12 years) groups were compared. RESULTS: There were 123 (63.7%) girls and 70 (36.3%) boys aged 4-17 years, median 14 years at disease onset. Family history of MS was 6...
June 29, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28692175/neurosonology-accuracy-for-isolated-acute-vestibular-syndromes
#18
Miguel Tábuas-Pereira, João Sargento-Freitas, Luís Isidoro, Fernando Silva, Orlando Galego, César Nunes, Gustavo Cordeiro, Luís Cunha
OBJECTIVES: The clinical approach to acute vestibular syndromes is often complex for the physician. Neurosonology offers a noninvasive method to study the cervicocephalic circulation when a vascular etiology is suspected. We aim to evaluate the diagnostic accuracy of a vascular neurosonological exam in isolated acute vestibular syndrome. METHODS: All patients submitted to cerebrovascular ultrasound and magnetic resonance imaging during the period between 2011 and 2015 with acute isolated vestibular syndrome...
July 10, 2017: Journal of Ultrasound in Medicine: Official Journal of the American Institute of Ultrasound in Medicine
https://www.readbyqxmd.com/read/28689294/cerebellar-disease-associated-with-anti-glutamic-acid-decarboxylase-antibodies-review
#19
REVIEW
José Fidel Baizabal-Carvallo, Marlene Alonso-Juarez
Several neurological syndromes have been recognized associated to GAD antibodies. Among those disorders, cerebellar ataxia (CA) is one of the most common, along with stiff-person syndrome. Patients with GAD associated CA present with a progressive pancerebellar syndrome, with a subacute or chronic evolution, along with other neurological manifestations such as stiffness, oculomotor dysfunction, epilepsy, and cognitive dysfunction. These symptoms may be preceded by the so-called "brainstem attacks", where manifestations consistent with transient dysfunction of the brainstem may be observed...
July 8, 2017: Journal of Neural Transmission
https://www.readbyqxmd.com/read/28687307/altered-neurobiological-function-of-brainstem-hypoglossal-neurons-in-digeorge-22q11-2-deletion-syndrome
#20
Xin Wang, Corey Bryan, Anthony-Samuel LaMantia, David Mendelowitz
DiGeorge/22q11.2 Deletion Syndrome (22q11DS) is a common genetic microdeletion syndrome that underlies several neurodevelopmental disorders including autism, attention deficit/hyperactivity disorder, and schizophrenia. In addition to cognitive impairments, those with 22q11DS have disrupted feeding and swallowing from birth onward. This perinatal dysphagia significantly compromises nutritional status, impairs appropriate weight gain, and can lead to life threatening aspiration-based infections. Appropriately timed excitation and inhibition of brainstem hypoglossal motor neurons, which innervate tongue muscles, is essential for proper feeding and swallowing...
July 4, 2017: Neuroscience
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