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The Clinical and Molecular Characteristics of Molybdenum Cofactor Deficiency Due to MOCS2 Mutations.

BACKGROUND: We explored the clinical and molecular characteristics of molybdenum cofactor deficiency due to MOCS2 muations. METHODS: We summarize the genetic and clinical findings of previously reported patients with a MOCS2 mutation. We also present a new patient with novel neuroradiological findings associated with molybdenum cofactor deficiency due to a novel homozygous variant in the 5' untranslated region of the MOCS2 gene. RESULTS: The study population comprised 35 patients with a MOCS2 gene mutation. All reported children had delayed motor milestones. The major initial symptom was sei

[Computerized axial tomography of the skull - diagnostic possibilities and clinical results (author's transl)].

Computerized axial tomography is a new method of tissue examination with x-rays whereby a picture can be produced which is a representation of a slice of the skull. This is done by irradiating the skull from 180 or 225 incremental angles and measuring the absorption at each of these angles. Then with the aid of a computer a tomogram is produced which can be displayed on a screen. These tomograms are representations of a cross-section of the skull composed of 160 X 160 points showing the various intracranial structures with great detail. The present study demonstrates the diagnostic possibiliti

Neurocognitive assessment before and after cranioplasty.

OBJECTIVE: This paper addresses the possible value of neurocognitive tests on the evaluation of patients before and after cranioplasty for large cranial defects. METHODS: In a single patient with a large corrected cranial defect a detailed neurocognitive analysis was performed utilizing the EXIT interview and Cognistat before and after surgery. Planning and development of the surgical prosthesis were based on the pre-operative reconstruction of the head CT and on pre-operative pictures of the patient. Xenon-CT anatomical and quantitative cerebral blood flow (CBF) analysis was performed before

[Molybdenum cofactor deficiency type B manifested as Leigh-like syndrome: a case report and literature review].

Objective: To explore the phenotypes and genotypes of molybdenum cofactor deficiency type B (MoCD-B) manifested as Leigh-like syndrome. Meth … reased urinary levels of xanthine and hypoxanthine. Cranial imaging showed cerebral atrophy, cystic encephalomalacia, etc. The onset ages of 7 patients varied from 5 months to 23 years. Four cases had normal psychomotor development before disease onset. Neurological disorders appeared acutely or exacerbated after external triggers and all of them had basal ganglia …

Surgical management of medically refractory epilepsy due to early childhood stroke.

UNLABELLED: OBJECT.: The risk of developing epilepsy after perinatal stroke, hypoxic/ischemic injury, and intracerebral hemorrhage is signif … low-up (range 15-77 months). Another 8 patients had intervascular border-zone ischemic infarcts and encephalomalacia, and in this cohort 2 hemispherotomies, 5 multilobar resections/disconnections, and 1 focal cortical resection were performed. Seven of these patients remain seizure free (Engel Class IA) after a mean 4.5-year follow-up (range 9-94 months), and 1 pa …

Cortical reorganization induced by virtual reality therapy in a child with hemiparetic cerebral palsy.

Virtual reality (VR) therapy is a new, neurorehabilitation intervention aimed at enhancing motor performance in children with hemiparetic cerebral palsy (CP). This case report investigated the effects of VR therapy on cortical reorganization and associated motor function in an 8-year-old male with hemiparetic CP. Cortical activation and associated motor development were measured before and after VR therapy using functional magnetic resonance imaging (fMRI) and standardized motor tests. Before VR therapy, the bilateral primary sensorimotor cortices (SMCs) and ipsilateral supplementary motor are

Neuroimaging of traumatic brain injury.

In this article, the neuroradiological evaluation of traumatic brain injury is reviewed. Different imaging strategies in the assessment of traumatic brain injury are initially discussed, and this is followed by a review of the imaging characteristics of both primary and secondary brain injuries. Computed tomography remains the modality of choice for the initial assessment of acute head injury because it is fast, widely available, and highly accurate in the detection of skull fractures and acute intracranial hemorrhage. Magnetic resonance imaging is recommended for patients with acute traumatic

[Enzymopathic congenital hyperlactacidemia].

Congenital enzymopathic hyperlactacidemia results from a defect of utilisation of pyruvate either at the level of the pyruvate junction (pyruvate-carboxylase, pyruvate-dehydrogenase and Kreb's cycle), or at the level of the unidirectional enzymes on neo-glucogenesis and of neo-glycogenogenesis, e.g. glucose-6-phosphatase, phosphoenol-pyruvate-carboxykinase and glycogen synthetase. The enzymopathies which affect neoglucogenesis associate hyper-lactacidemia and fasting hypoglycemia and more or less marked hepatomegaly. Type I glycogenesis (von Gierke's disease) is the best known example. Enzymop

A multicenter clinical epidemiology of pediatric pneumococcal meningitis in China: results from the Chinese Pediatric Bacterial Meningitis Surveillance (CPBMS) 2019-2020.

OBJECTIVE: To analyze the clinical epidemiological characteristics including clinical features, disease prognosis of pneumococcal meningitis … anial hemorrhage in 8 cases (5.0%), and other cerebrovascular diseases in 13 cases (8.1%) including encephalomalacia, cerebral infarction, and encephalatrophy. Subdural effusion and (or) empyema and hydrocephalus mainly occurred in children < 1 years old (90.7% (39/43) and 83.3% (20/24), respectively). 17 cases with PM (39.5%) had more than one intracranial imagin …

Pediatric Herpes Simplex Virus Encephalitis Complicated by N-Methyl-D-aspartate Receptor Antibody Encephalitis.

N-methyl-D-aspartate receptor antibodies (NMDAR-Abs) can contribute to neurological relapse after herpes simplex virus encephalitis (HSE). We describe a child with NMDAR-Ab encephalitis after HSE, which was recognized and treated early. We discuss the case in the context of existing reports, and we propose a modified immunotherapy strategy to minimize risk of viral reactivation.

Parkinsonism with multiple cysts in the bilateral striata.

The present paper reports on a 68-year-old man with a 10-year history of parkinsonism who developed hallucinations and delusions after admission to an intensive care unit for the treatment of organophosphate intoxication. His initial diagnosis was delirium. On the basis of brain computed tomography findings and clinical symptoms, we diagnosed drug-induced psychosis in parkinsonism with multiple cysts in the bilateral striata.

[A multicenter epidemiological study of acute bacterial meningitis in children].

Objective: To analyze the clinical epidemiological characteristics including composition of pathogens , clinical characteristics, and diseas … 33 cases (14.5%), brain abscess in 178 cases (11.1%), and other cerebrovascular diseases, including encephalomalacia, cerebral infarction, and encephalatrophy, in 174 cases (10.8%). Among the 166 cases (10.3%) with unfavorable outcome, 32 cases (2.0%) died among whom 24 cases died before 1 year of age, and 37 cases (2.3%) had recurrence among whom 25 cases had rec …

Развитие энцефалита рецептора против NMDA у пациента с множественным склерозом.

Энцефалит рецептора против N-метил-D (антиNMDA) является редким подтипом аутоиммунного энцефалита, который часто вызывает симптомы, характерные для ранней стадии заболевания. В данном случае речь идет о пациентке с повторным излучением множественных склерозов (RRMS), у которой появился энцефалит рецептора против NMDA, при этом она прошла курс лечения, позволяющий нейтрализовать болезни. У нее были нейрокогнитивные симптомы и нетипичные магнитные резонансные открытия. Клинические и лабораторные исследования, включая поясничные проколы, подтвердили наличие антител IgG против подблока GluN1 рецеп

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… Follow-up MRI revealed post-encephalitic atrophic changes in the bilateral temporal lobes and post-ischaemic encephalomalacia in the left cerebellar lobe ( figure 5 ). (A) Axial T2-weighted MRI at baseline, showing no structural changes. … (B) Follow-up axial T2-weighted MRI demonstrating bilateral temporal lobe atrophy (blue arrowhead) and post-ischaemic encephalomalacia in the left cerebellar lobe (red arrowhead). …

Глубокая стимуляция мозга в гипоталамической области: систематический обзор.

КОЛИЧЕСТВО: Глубокая стимуляция мозга (БРС) успешно используется для лечения циклопатии, включая движение, беспокойство и поведенческие расстройства. Гипоталамус является важнейшим интеграционным центром для многих периферийных и центральных путей, связанных с сердечно - сосудистыми, метаболическими и поведенческими функциями, и представляет собой потенциальную цель нейромодуляции в лечебных условиях. Проведение систематического обзора, изучение гипоталамических целей в ДБС, их признаков и основных клинических результатов.МЕТОДЫ: База данных PubMed, Scopus и Web of Science была подвергнута обы

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… , 40 (1, 14.3%) Leone et al., 2013 [ 48 ] NS NS 5—8 attacks daily. 2 (10.5%) patients had CCH from the onset, and 17 (89.5%) had episodic CCH Torres et al., 2013 [ 87 ] Moderate diffuse cortico-subcortical atrophy + pineal cyst (1, 16.7%), gliotic areas related to previous ops (1, 16.7%), extensive encephalomalacia … , 40 (1, 14.3%) Leone et al., 2013 [ 48 ] NS NS 5—8 attacks daily. 2 (10.5%) patients had CCH from the onset, and 17 (89.5%) had episodic CCH Torres et al., 2013 [ 87 ] Moderate diffuse cortico-subcortical atrophy + pineal cyst (1, 16.7%), gliotic areas related to previous ops (1, 16.7%), extensive encephalomalacia …

Surgery for epilepsy.

BACKGROUND: This is an updated version of the original Cochrane review, published in 2015.Focal epilepsies are caused by a malfunction of ne … ence of unilateral interictal spikes. We found no evidence that history of head injury, presence of encephalomalacia, presence of vascular malformation, and presence of postoperative discharges were prognostic factors of outcome.Twenty-nine studies reported multi-variable models of prognostic factors, and showed that the direction of association of factors with ou …

Необычный Строук-Вроде Презентации Множественного Склероза в 27-летнем человеке.

Трубоактивный множественный склероз (TMS) является редким подтипом множественного склероза с различными клиническими представлениями, что часто приводит к задержкам с диагностикой и началом лечения. В ходе исследования она имеет большое (>2 см) демиелинирующее массово похожее повреждение и может сопровождаться кольцевым улучшением, опасным отёком и массовым эффектом. Мы сообщаем о случае с 27-летним мужчиной, у которого была правая слабость и онемение. Год назад он выступил с аналогичной презентацией без окончательного диагноза. Вычисленная томография (CT) мозга выявила многочисленные двусторо

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… Additionally, a lesion without enhancement in the superior frontal gyrus with some cortical encephalomalacia suggested a similar episode with residual lesions in the past. …