Abstract:
:Movement disorders in childhood comprise a heterogeneous group of conditions that lead to impairment of voluntary movement, abnormal postures, or inserted involuntary movements. Movement disorders in children are frequently caused by metabolic disorders, both inherited and acquired. Many of these respond to vitamin supplementation. Examples include infantile tremor syndrome, biotinidase deficiency, biotin-thiamine-responsive basal ganglia disease, pyruvate dehydrogenase deficiency, aromatic amino acid decarboxylase deficiency, ataxia with vitamin E deficiency, abetalipoproteinemia, cerebral folate deficiency, and cobalamin metabolism defects. Recognition of these disorders by pediatricians and neurologists is imperative as they are easily treated by vitamin supplementation. In this review, we discuss vitamin-responsive movement disorders in children.
journal_name
Ann Indian Acad Neuroljournal_title
Annals of Indian Academy of Neurologyauthors
Sondhi V,Sharma Sdoi
10.4103/aian.AIAN_678_19subject
Has Abstractpub_date
2020-05-01 00:00:00pages
325-331issue
3eissn
0972-2327issn
1998-3549pii
AIAN-23-325journal_volume
23pub_type
杂志文章abstract:BACKGROUND:Guillain-Barré syndrome (GBS) is an acute inflammatory polyneuropathy commonly characterized by rapidly progressive, symmetric weakness and areflexia. MATERIALS AND METHODS:We retrospectively assessed the clinical manifestations, results of electrodiagnostic tests, functional status and prognosis of 36 chil...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.82793
更新日期:2011-04-01 00:00:00
abstract::Cerebrotendinous xanthomatosis is an autosomal recessive inborn error of metabolism that is an often missed but treatable cause of hereditary ataxia. We report a case of cerebrotendinous xanthomatosis (CTX) that was diagnosed only after the development of cognitive decline and adult onset ataxia in a 35-year-old man. ...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/aian.AIAN_126_18
更新日期:2019-10-01 00:00:00
abstract::Stent retrieval system is an established treatment modality in acute ischemic stroke with large vessel occlusion. Here, we describe a complication which occurred during mechanical thrombectomy in three cases where the clot dislodged during retrieval. There was a possibility of the clot getting reinjected into the arte...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.176866
更新日期:2016-04-01 00:00:00
abstract::The authors report a family from Punjab (India) with 10 members having benign familial neonatal convulsions (also known as benign familial neonatal seizures) in two generations. This disorder is quite rare. The clinical presentation of index case along with the findings of computed tomography of the brain and electroe...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.40227
更新日期:2008-01-01 00:00:00
abstract::Cerebral vasculitis secondary to Crohn's disease (CD) seems to be a very rare phenomenon. We report a 39-year-old male who presented with headache, vomiting, and left-sided weakness in the known case of CD. Cross-sectional imaging (computed tomography and magnetic resonance imaging,) showed right gangliocapsular acute...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.144035
更新日期:2014-10-01 00:00:00
abstract::Allgrove Syndrome or triple A syndrome is a rare familial multisystem disorder characterized by achalasia, alacrima and adrenal insufficiency. The objective was to describe a case of 4A syndrome where autonomic dysfunction was the presenting feature. A 22-year-old male presented with erectile dysfunction and loss of s...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.112494
更新日期:2013-04-01 00:00:00
abstract:Background:Reduced hemoglobin concentration has an adverse impact on the ischemic penumbra in patients with ischemic stroke as it causes reduced oxygen delivery to neuronal tissue and predisposes to infarct expansion. There is a paucity of data on the impact of anemia on early functional outcomes. Aims:To determine th...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_357_19
更新日期:2020-07-01 00:00:00
abstract::A 67-year-old male smoker had exertional headaches for 2 years. The headaches were holocephalic, very severe, excruciating, and occasionally accompanied by nausea. Physical examinations and neuroimaging were normal. Electrocardiogram (ECG) showed old infarct in inferior leads. Sublingual nitrate provided relief in hea...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.165467
更新日期:2016-04-01 00:00:00
abstract:BACKGROUND:Congenital myopathies (CMs) though considered distinct disorders, simultaneous occurrence of central nucleus, nemaline rods, and cores in the same biopsy are scarcely reported. OBJECTIVE:A retrospective reassessment of cases diagnosed as CMs to look for multiple pathologies missed, if any, during the initia...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.176861
更新日期:2016-04-01 00:00:00
abstract::Primary trigeminal autonomic cephalalgias (TACs) are uncommon group of headache disorders. These are defined and diagnosed by the criteria given by the International Classification of Headache Disorders 3β version. Over the past few decades, a number of secondary (symptomatic) cases have been described in the literatu...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章,评审
doi:10.4103/aian.AIAN_16_18
更新日期:2018-04-01 00:00:00
abstract:BACKGROUND:Neuromyelitis optica (NMO) is an immune-mediated inflammatory demyelinating disorder of the central nervous system with a predilection for the optic nerves and the spinal cord. Immunopathological evidence suggests that the target antigen of the disease is aquaporin-4. An IgG antibody against this protein has...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.116945
更新日期:2013-07-01 00:00:00
abstract:AIM:The aim of this work was to assess the respiratory functions of ambulatory Duchenne patients and to propose an earlier time period for intervention. MATERIALS AND METHODS:Lung functions and North Star Ambulatory Assessment (NSAA) scores of Duchenne patients were evaluated simultaneously. RESULTS:Thirty ambulatory...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.85889
更新日期:2011-07-01 00:00:00
abstract:OBJECTIVE:Frontal executive dysfunction (FED) and abnormalities in volumetric magnetic resonance imaging (MRI) have been described in juvenile myoclonic epilepsy (JME). We aimed to compare JME patients with and without FED by group analysis of voxel-based morphometric (VBM) estimates of brain volume in MRI. SUBJECTS A...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_44_17
更新日期:2017-07-01 00:00:00
abstract::Tension type headaches are common in clinical practice. Earlier known by various names, the diagnosis has had psychological connotations. Recent evidence has helped clarify the neurobiological basis and the disorder is increasingly considered more in the preview of neurologists. The classification, clinical features, ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.100023
更新日期:2012-08-01 00:00:00
abstract:Objectives:Stress, anxiety, and depression are known to be associated with the development of neurodegenerative disorders through interactions with the underlying pathophysiology. We hypothesized that the presence of these symptoms contributes to cognitive disturbances and dementia in Parkinson's disease (PD). The pres...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_341_18
更新日期:2019-10-01 00:00:00
abstract::Nummular headache (NH) is a newly categorized headache disorder characterized by a consistent clinicographics in each attack. Currently, it is considered as a primary headache disorder due to epicranial neuralgia but the pathomechanism is still unknown. We report a woman, whose recurrent NH subsided after trans-spheno...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.112475
更新日期:2013-04-01 00:00:00
abstract::One of the first steps toward the correct diagnosis of dementia is to segregate out the nondegenerative dementias from possible degenerative dementias. Nondegenerative dementias could be due to traumatic, endocrine, metabolic, nutritional, toxic, infective, and immunological causes. They could also be caused by tumors...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.74247
更新日期:2010-12-01 00:00:00
abstract::Three cases with manifestations of right heart failure, shock, metabolic acidosis, and renal failure in varying combination were admitted with paraparesis. Nerve conduction study suggested predominantly motor and mainly axonal type of neuropathy. Rapid reversal of shock, acidosis, and multi-organ dysfunction with time...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.120467
更新日期:2013-10-01 00:00:00
abstract:Background:Stroke survivors suffer from significant neuropsychiatric disturbances and these disturbances act as barrier in the motor recovery. Medication is the common treatment but it has adverse effects. Hence, there is a need to find out effective treatments with or without minimal side effects for gross motor recov...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_448_17
更新日期:2018-07-01 00:00:00
abstract::We report a case of rabies viral encephalitis in a 48-year-old male with an unusually long incubation period, historically suspected to be more than 20 years. The case was referred for histological diagnosis following alleged medical negligence to the forensic department. The histology and immunocytochemical demonstra...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.99728
更新日期:2012-07-01 00:00:00
abstract:Introduction:In Guillain Barre syndrome (GBS), worsening of weakness or disability after initial period of recovery or stabilization is described as treatment-related fluctuations (TRF). Aim:This study aims to describe the clinical characteristics and outcome of six patients with GBS and TRF. Patients and Methods:Six...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/aian.AIAN_242_17
更新日期:2017-10-01 00:00:00
abstract:BACKGROUND:Only few papers have investigated the impact of multiple sclerosis (MS), especially MS-related fatigue and the impact of the quality of sleep on the quality of life (QoL) in MS patients. OBJECTIVE:The objective of this study was to measure the quality of life in MS patients and the impact of disability, fat...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.44559
更新日期:2008-10-01 00:00:00
abstract::[This corrects the article on p. 49 in vol. 18, PMID: 25745311.]. ...
journal_title:Annals of Indian Academy of Neurology
pub_type: 已发布勘误
doi:10.4103/0972-2327.162306
更新日期:2015-07-01 00:00:00
abstract:INTRODUCTION:Hyponatremia is a common electrolyte disorder encountered in patients of neurological disorders which is usually either due to inappropriate secretion of Antidiuretic hormone (SIADH) or cerebral salt wasting syndrome (CSWS). We conducted this study in a tertiary care hospital to determine the incidence and...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.128554
更新日期:2014-01-01 00:00:00
abstract::Pursuing a diagnosis despite a negative nerve biopsy report requires a strong clinical conviction. Paying attention to clinical details and a diligent review of medical records is needed to solve cases in which the diagnosis is not obvious despite numerous tests. We present once such case of an elderly man with chroni...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.194413
更新日期:2016-10-01 00:00:00
abstract::18-Fluoro-2-deoxy-D-glucose(FDG) is a structural analog of 2-deoxyglucose and accumulates in malignant tissues but also at sites of infection and inflammation. For this reason, FDG PET or PET/CT has great advantage in understanding of underlying pathology in assessment of FUO (Fever of unknown origin). However, till t...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.104353
更新日期:2012-10-01 00:00:00
abstract::Henoch-Schonlein purpura (HSP) is a small vessel vasculitis that is rare in adults. Here, we present a case of a woman who presented with palpable purpura, abdominal pain, arthritis and ischemic stroke. The patient met the diagnostic criteria of HSP. However, cerebrovascular disease is reported as an uncommon, yet fat...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.104343
更新日期:2012-10-01 00:00:00
abstract::Multiple sulfatase deficiency is biochemically characterized by the accumulation of sulfated lipids and acid mucopolysaccharides. The gene sulfatase-modifying factor 1 (SUMF1), recently identified, encodes the enzyme responsible for post-translational modification of a cysteine residue, which is essential for the acti...
journal_title:Annals of Indian Academy of Neurology
pub_type:
doi:10.4103/0972-2327.120449
更新日期:2013-10-01 00:00:00
abstract::Lhermitte's sign was described by Marie and Chatelin and named after Jean Lhermitte. This sign is mostly described as an electric shock like condition by some patients of multiple sclerosis. This sensation occurs when the neck is moved in a wrong way or rather flexed. It can also travel down to the spine, arms, and le...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.150622
更新日期:2015-04-01 00:00:00
abstract:BACKGROUND AND PURPOSE:The purpose of this study was to assess the effectiveness of modified constraint induced movement therapy (m-CIMT) in stroke subjects. MATERIALS AND METHODS:A total of forty sub-acute stroke subjects were randomly assigned to either a m-CIMT (n = 20) or in a control group (n = 20). The m-CIMT gr...
journal_title:Annals of Indian Academy of Neurology
pub_type: 杂志文章
doi:10.4103/0972-2327.112461
更新日期:2013-04-01 00:00:00