Abstract:
BACKGROUND:Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. CASE DESCRIPTION:A 12 year old girl, presented with history of fever for 10 days, painful swelling of right eye for 7 days and altered sensorium for 2 days. On examination, she had right eye orbital cellulitis and fullness of right paranasal area. On nervous system examination, she was delirious, had right eye ophthalmoparesis, left upper motor neuron facial palsy and signs of meningeal inflammation. Her contrast enhanced CT head and subsequent MRI brain with arteriography and venography revealed right cavernous sinus and distal internal carotid artery thrombosis. She was started on intravenous ceftriaxone and vancomycin and subcutaneous heparin. In view of persistent symptoms, endoscopic debridement of right nasal cavity was done, which showed growth of aspergillus flavus. Subsequently, she was started on intravenous voriconazole. Within a week, she was afebrile, her inflammatory and neurological signs started improving. She was discharged after 3 weeks of intravenous voriconazole which was continued for 3 more weeks orally. Her procoagulant and immunodeficiency work up were normal. At 4 months follow up, she showed both clinical and radiological resolution. CONCLUSIONS:Despite high mortality described in sino-orbital aspergillosis, early and appropriate treatment led to optimal outcome. In deep seated infections, isolation of etiological organism should be attempted, particularly when patient doesn't respond to conventional antimicrobial therapy.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Gupta J,Chakrabarty B,Singh G,Singh S,Kumar A,Xess I,Jauhari P,Gulati Sdoi
10.1016/j.braindev.2020.07.016subject
Has Abstractpub_date
2021-01-01 00:00:00pages
152-156issue
1eissn
0387-7604issn
1872-7131pii
S0387-7604(20)30200-Xjournal_volume
43pub_type
abstract::Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.03.013
更新日期:2010-03-01 00:00:00
abstract::Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2011.04.010
更新日期:2012-03-01 00:00:00
abstract::Eighteen children with diplegic form of cerebral palsy (CP) underwent magnetic resonance imaging (MRI) because of the enlarged occipital horns of both lateral ventricles found on previous computerized tomography (CT). In 16 of them squint was present. MRI in flow attenuated inversion recovery (FLAIR) and turbo spin ec...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00178-4
更新日期:2001-03-01 00:00:00
abstract::Idiopathic hypereosinophilic syndrome (IHES) is a rare disorder affecting cardiac, pulmonary and nervous systems with peripheral neuropathy, encephalopathy and cerebral thromboembolism. We report a 7-year-old boy with IHES who developed central sinovenous thrombosis and cerebral hemorrhage. Although he had hypereosino...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.08.004
更新日期:2007-04-01 00:00:00
abstract::We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.03.009
更新日期:2013-02-01 00:00:00
abstract::A boy with chronic relapsing dysimmune polyneuropathy was treated with intravenous gammaglobulin injections for the fourth and fifth episodes, and showed rapid clinical improvement compared with in the three previous episodes, when he was treated by high dose steroid administration. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80332-9
更新日期:1990-01-01 00:00:00
abstract::This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.004
更新日期:2013-06-01 00:00:00
abstract::Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00316-3
更新日期:2001-12-01 00:00:00
abstract::Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80006-x
更新日期:1981-01-01 00:00:00
abstract::We report a case involving a 15-year-old boy with MELAS (G13513A mutation) who developed several stroke-like episodes in a short period of time. Intravenous administration of l-arginine during the acute phase of the stroke-like episodes reduced symptoms immediately, and oral supplementation of l-arginine successfully ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.07.013
更新日期:2011-06-01 00:00:00
abstract::We report three typical cases of Landau-Kleffner syndrome with varied courses. The very frequent discharges in sleep EEGs, often showing the patterns of CSWS (continuous spike-waves during slow-wave sleep), either typical (spike-wave complex occupying over 85% of slow-wave sleep duration) or atypical (spike-waves occu...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00168-9
更新日期:1996-05-01 00:00:00
abstract::Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80008-1
更新日期:1988-01-01 00:00:00
abstract::Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.03.013
更新日期:2019-08-01 00:00:00
abstract:BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.06.008
更新日期:2010-05-01 00:00:00
abstract::We report a 2-month-old boy who presented with apneic attacks as a manifestation of epileptic seizures at onset and eventually progressed to infantile spasms. At onset, at 2 months of age, apneic attacks were the sole symptom of epileptic fits. Although these seizures were accompanied by cyanosis, bradycardia was not ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00148-4
更新日期:1996-05-01 00:00:00
abstract:AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.05.005
更新日期:2020-09-01 00:00:00
abstract::MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-l...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.09.012
更新日期:2007-06-01 00:00:00
abstract::Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00067-4
更新日期:1995-11-01 00:00:00
abstract:AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.08.004
更新日期:2010-08-01 00:00:00
abstract:BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.08.003
更新日期:2019-02-01 00:00:00
abstract:OBJECTIVE:This study used quantitative analysis to determine whether increased variability in fetal heart rate (FHR) is related to the risk of developing periventricular leukomalacia (PVL). METHODS:We analyzed 124 FHR traces of neonates delivered preterm at 27-33 weeks' gestation to 105 mothers. FHR traces 1-3h before...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.08.008
更新日期:2016-02-01 00:00:00
abstract::Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00339-4
更新日期:2001-12-01 00:00:00
abstract::Transmission of information in the brain is of a chemical nature. Neurotransmitters are present at very early stages of brain development, having trophic effects on maturation of target neurons as well as mediating the behavioral repertoire of the immature brain. Many centrally acting psychoactive drugs which are comm...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80058-4
更新日期:1986-01-01 00:00:00
abstract:OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.03.004
更新日期:2017-08-01 00:00:00
abstract::Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.04.002
更新日期:2015-02-01 00:00:00
abstract::From the mass screening EEG, 31 primary school children and 17 junior high school (Jr-HS) students with paroxysmal discharge were chosen. An equal number of children with disorganized patterns, including a few borderline ones, and with normal patterns were selected from the same classes. School performance and behavio...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80005-9
更新日期:1983-01-01 00:00:00
abstract::We performed neurophysiological studies in 12 patients with the Leigh syndrome (6 pathologically confirmed and 6 clinically diagnosed). The results are compared with data derived from a literature survey of 173 Leigh syndrome patients. We found no positive contribution of neurophysiological studies towards the diagnos...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80004-3
更新日期:1986-01-01 00:00:00
abstract::Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.03.002
更新日期:2007-10-01 00:00:00
abstract::The molybdenum cofactor is essential for the function of sulphite oxidase, xanthine dehydrogenase, and aldehyde oxidase enzymes. Molybdenum cofactor deficiency (MoCD) is a fatal disease resulting in severe neurological damage and death in early childhood. MoCD is an autosomal recessive condition which may mimic ischae...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.10.007
更新日期:2007-07-01 00:00:00
abstract:BACKGROUND:Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT:We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She ...
journal_title:Brain & development
pub_type:
doi:10.1016/j.braindev.2020.12.009
更新日期:2021-01-12 00:00:00