Gyrus Cinguli ; Claustrum ; Cerebral Cortex ; Basal Ganglia ; Motor Activity ; Neural Pathways

Cerebellum ; Basal Ganglia

OBJECTIVE: To explore the clinical characteristics and genetic etiology of a patient with adolescent-onset hypomyelinated leukodystrophy with atrophy of basal ganglia and cerebellum (H-ABC). METHODS: A patient who was diagnosed with H-ABC in March 2018 at the First Affiliated Hospital of Nanjing Medical University was selected as the study subject. Clinical data was collected. Peripheral venous blood samples of the patient and his parents were collected. The patient was subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RESULTS: The patient, a 31-year-old male, had manifested with developmental retardation, cognitive decline and abnormal gait. WES revealed that he has harbored a heterozygous c.286G>A variant of the TUBB4A gene. Sanger sequencing confirmed that neither of his parents has carried the same variant. Analysis with SIFT online software indicated the amino acid encoded by this variant is highly conserved among various species. This variant has been recorded by the Human Gene Mutation Database (HGMD) with a low population frequency. The 3D structure constructed by PyMOL software showed that the variant has a harmful effect on the structure and function of the protein. According to the guidelines formulated by the American College of Medical Genetics and Genomics (ACMG), the variant was rated as likely pathogenic. CONCLUSION The c.286G>A (p.Gly96Arg) variant of the TUBB4A gene probably underlay the hypomyelinating leukodystrophy with atrophy of basal ganglia and cerebellum in this patient. Above finding has enriched the spectrum of TUBB4A gene variants and enabled early definitive diagnosis of this disorder.
Male ; Humans ; Adolescent ; Adult ; Magnetic Resonance Imaging ; Basal Ganglia/pathology* ; Cerebellum ; Atrophy/pathology* ; Mutation ; Tubulin/genetics*

OBJECTIVE: To summarize and analyze the clinical characteristics of children with basal ganglia germinoma and to improve the level of early clinical diagnosis. METHODS: The clinical data of children diagnosed with basal ganglia germinoma admitted to the Pediatric Surgery Ward of Peking University First Hospital from January 2013 to December 2020 were retrospectively analyzed, and descriptive statistics were used to analyze the clinical characteristics of children with basal ganglia germinoma. RESULTS: A total of 30 patients were included in the study, 28 were male, 2 were female, the mean age at onset was (9.7±2.2) years, the median disease duration was 7 months, 27 had unilateral disease, and 3 had bilateral disease. The clinical manifestations were decreased limb muscle strength, cognitive function disorders, polydipsia, precocious puberty, intracranial hypertension, dysphonia and swallowing dysfunction. The serum and cerebrospinal fluid tumor marker alpha-fetoprotein (AFP) were normal in the 30 patients, and the serum and cerebrospinal fluid tumor marker β-human chorionic gonadotropin (β-HCG) were normal in 8 patients.The serum β-HCG was normal in 11 patients but the cerebrospinal fluid β-HCG was slightly elevated, and the serum and cerebrospinal fluid β-HCG were slightly elevated in 11 patients. A total of 33 lesions with irregular shapes were found by imaging examination, including 15 (45.5%) patchy lesions, 10 (30.3%) patchy lesions, and 8 (24.2%) round-like high-density lesions. Tumors showed obvious high-density shadows on computed tomography (CT) scan. Magnetic resonance imaging (MRI) scan of the tumors showed low or isointensity on T1WI and isointensity on T2WI, accompanied by mild peritumoral edema, hemispheric atrophy, cerebral peduncle atrophy, calcification, cystic degeneration, ventricular dilatation and wallerian degeneration. On contrast-enhanced scans, the tumor showed no enhancement or heterogeneous enhancement. CONCLUSION The main age of onset of germ cell tumors in the basal ganglia in children is about 10 years old, and males are absolutely dominant. The clinical features and imaging manifestations have certain characteristics. With both combined, the early diagnosis of germ cell tumors in the basal ganglia can be improved.
Atrophy/pathology* ; Basal Ganglia/pathology* ; Biomarkers, Tumor ; Brain Neoplasms/diagnostic imaging* ; Child ; Chorionic Gonadotropin, beta Subunit, Human ; Female ; Germinoma/pathology* ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasms, Germ Cell and Embryonal ; Retrospective Studies

Neurodegeneration with brain iron accumulation (NBIA) is a group of rare neurogenetic degenerative diseases caused by genetic mutations and characterized by iron deposition in the central nervous system, especially in the basal ganglia, with an overall incidence rate of 2/1 000 000-3/1 000 000. Major clinical manifestations are extrapyramidal symptoms. This disease is presently classified into 14 different subtypes based on different pathogenic genes, and its pathogenesis and treatment remain unclear. This article summarizes the research advances in the pathogenesis and treatment of NBIA, so as to help pediatricians understand this disease and provide a reference for subsequent research on treatment.
Basal Ganglia ; Basal Ganglia Diseases ; Brain ; Humans ; Iron ; Iron Metabolism Disorders/therapy*

To compare the short-and long-term effect of two minimal invasive surgical therapies including keyhole approach endoscopic surgery(KAES)and stereotactic aspiration plus urokinase(SAU)in treating basal ganglia hypertensive intracerebral hemorrhage(hICH). The clinical data of 117 hICH patients(63 received KAES and 54 received SAU)were retrospectively analyzed.The operation time,blood loss during surgery,and drainage time were compared between two groups.The residual hematoma volume,hematoma clearance rate(HCR),Glasgow coma scale(GCS)score,and National Institute of Health Stroke Scale(NIHSS)score were recorded at baseline and in the ultra-early stage,early stage,and sub-early stage after surgery.The 30-day mortality and serious adverse events were assessed and the 6-month modified Rankin scale(mRS)score was rated. Baseline data showed no significant difference between these two groups.Compared with the SAU group,the KAES group had significantly longer operation time,more intraoperative blood loss,and shorter drainage time(all <0.001).In the ultra-early stage after surgery,HCR was significantly higher in the KAES group(<0.001),whereas in the early and sub-early stage,HCR showed no significant differences(all >0.05).In the ultra-early and early stage,the GCS and NIHSS scores showed no significant differences between two groups(all >0.05),whereas in the sub-early stage,the NIHSS score was better in the SAU group(=0.034).The 30-day mortality and incidences of serious adverse events showed no significant difference(all >0.05).The good recovery(mRS≤3)at 6-months follow-up showed no significant difference between the two groups(=0.413). Both KAES and SAU are safe and effective in treating basal ganglia hICH.In the ultra-early stage after surgery,KAES achieves better residual hematoma volume and HCR,and patients undergoing SAU quickly catch up.The short-and long-term effectiveness of SAU is comparable or even superior to KAES.
Basal Ganglia ; Humans ; Intracranial Hemorrhage, Hypertensive ; Retrospective Studies ; Treatment Outcome ; Urokinase-Type Plasminogen Activator

INTRODUCTION: Nonketotic hyperglycemia among type 2 diabetic patients have recently been documented to cause the rare movement disorder called Hemichorea-hemiballism syndrome which is a hyperkinetic movement disorder presenting as a continuous, non-patterned, involuntary movements caused by a basal ganglia dysfunction. METHODS: A 76-year-old male with a known history of hypertension and no history of stroke and diabetes presented with a 10-day history of increasingly persistent involuntary movements of the right extremities. On admission, the patient was conscious with stable vital signs and unremarkable neurologic findings except for the involuntary flailing movements of the right extremities. Diagnostic testing revealed first documentation of hyperglycemia with brain MRI changes on T1 hyperintensity signals on the basal ganglia and T2/FLAIR weighted imaging showing mixed hypointense and hyperintense signals which is a classical MRI finding in patients with HC-HB syndrome caused by nonketotic hyperglycemia. The patient was treated for diabetes and was maintained on anti-dopaminergic medications for the uncontrollable involuntary movements. After five months, resolution of the hemiballism-hemichorea syndrome was noted after appropriate treatment. CONCLUSION: This case report highlights hemichoreahemiballism syndrome in a newly diagnosed type 2 diabetic patient who had normal glucose levels at presentation. The prompt recognition and correction of uncontrolled newly diagnosed diabetes and administration of anti-dopamine agents lead to a rapid improvement of symptoms, less neurologic sequelae and an overall favorable prognosis.
Chorea ; Dyskinesias ; Hyperglycemia ; Basal Ganglia Diseases ; Diabetes Mellitus, Type 2 ; Basal Ganglia

Tube feeding is used to provide nutritional support to patients who have difficulty taking food orally. A nasogastric tube is commonly used for these patients but there are some complications. Therefore, the oro-esophageal tube feeding method was developed to avoid these disadvantages. A 33-year-old male with a history of right basal ganglia intracranial hemorrhage was admitted to the rehabilitation department for the treatment of dysphagia caused by a new onset left basal ganglia intracranial hemorrhage. After the videofluoroscopic swallowing study, the nasogastric tube feeding was changed to intermittent feeding via an oro-esophageal tube. Unfortunately, the patient swallowed the tube during insertion. Hence, an emergent endoscopy was performed for tube removal. This article reports a rare case of a patient who underwent oro-esophageal tube removal with an esophagogastroduodenoscopy after tube swallowing during insertion. The insertion of an oro-esophageal tube requires a careful approach after considering the cognitive function, muscle strength, and family education.
Adult ; Basal Ganglia ; Cognition ; Deglutition ; Deglutition Disorders ; Education ; Endoscopy ; Endoscopy, Digestive System ; Enteral Nutrition ; Humans ; Intracranial Hemorrhages ; Male ; Methods ; Muscle Strength ; Nutritional Support ; Rehabilitation

OBJECTIVE: To examine the clinical factors and brain lesion locations related to the patterns of dysphagia in stroke patients in a rehabilitation hospital. METHODS: The medical records of 116 stroke patients who underwent a videofluoroscopic swallowing study (VFSS) between January 2010 and January 2015 in a rehabilitation hospital were reviewed retrospectively. The swallowing-related parameters were assessed using a VFSS. The brain lesion locations were classified as the cortex, basal ganglia, thalamus, midbrain, pons, medulla, cerebellum, and others (subarachnoid or intraventricular hemorrhage). The ambulation ability was assessed using functional ambulation categories (FACs). The independence in the activities of daily living and the degree of cognitive impairment were assessed using the Korean versions of the modified Barthel index (K-MBI) and Mini-Mental State Examination (K-MMSE), respectively. After adjusting for the potential confounding factors in multivariate analysis, the odds ratios and confidence intervals of the stroke brain lesions were calculated and the clinical factors for predicting the VFSS findings were determined. RESULTS: Among the 116 patients, 35 (27%) had an impaired oral stage and 58 (50%) had aspiration. The impaired oral stage was associated significantly with the onset time, basal ganglia stroke, dietary and fluid intake methods at the time of the VFSS, symptoms of dysphagia, FACs, K-MBI, and K-MMSE. Aspiration was correlated with a pontine stroke, methods of dietary and fluid intakes at the time of the VFSS, symptoms of dysphagia, FACs, and K-MBI. Multivariate analysis showed that the pontine stroke and methods of dietary and fluid intake at the time of VFSS predicted aspiration after adjusting for the potential confounding factors. In subgroup analysis of the diet type, the liquid and semisolid aspirations were correlated with the dietary and fluid intake methods and pontine stroke, respectively. CONCLUSION: Patients with a pons lesion stroke, who are on a modified diet (fluid thickening and tube feeding), have higher risks of aspiration. This provides evidence for precise clinical reasoning in this specific patient group.
Activities of Daily Living ; Aspirations (Psychology) ; Basal Ganglia ; Brain ; Cerebellum ; Cognition Disorders ; Deglutition Disorders ; Deglutition* ; Diet ; Humans ; Medical Records ; Mesencephalon ; Multivariate Analysis ; Odds Ratio ; Oral Stage ; Pons ; Rehabilitation ; Retrospective Studies ; Stroke* ; Thalamus ; Walking

The patient was a male who was found to be abnormal at the age of 4.5 months. He presented with irritability, motor regression and opisthotonus. Brain MRI revealed bilateral abnormality in the lentiform nucleus, thalamus, deutocerebrum and cerebellar hemispheres. Novel compound heterozygous mutations of SLC19A3 gene, c.950G>A(p.G317E) and c.962C>T(p.A321V), were found in the patient. Further study showed that c.950G>A was inherited from his father and c.962C>T came from his mother. Using bioinformatics software analysis, both of the mutations were found to be harmful. His symptoms were improved remarkably after biotin, thiamine and "cocktail" therapy. One month later a brain MRI revealed that the lesions in basal ganglia and cerebellar hemispheres were improved. The patient was definitely diagnosed with biotin-thiamine responsive basal ganglia disease (BTBGD). BTBGD is a treatable autosomal recessive disease and early administration of biotin and thiamine may lead to clinical improvement.
Basal Ganglia Diseases ; Crying ; Humans ; Infant ; Magnetic Resonance Imaging ; Male ; Membrane Transport Proteins ; Thiamine