Bone Neoplasms ; pathology ; Cerebellum ; pathology ; Humans ; Neurocytoma ; pathology ; Petrous Bone ; pathology

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*

OBJECTIVES: Clinically, it has been found that some patients with epilepsy are accompanied by cerebellar atrophy that is inconsistent with symptoms, but the pattern of cerebellar atrophy after epilepsy and the role of cerebellar atrophy in the mechanism of epilepsy have not been elucidated. This study aims to explore the specific pattern of cerebellar atrophy after epilepsy via analyzing magnetic resonance images in patients with postepileptic cerebellar atrophy. METHODS: A total of 41 patients with epilepsy, who received the treatment in Xiangya Hospital of Central South University from January 2017 to January 2022 and underwent cranial MRI examination, were selected as the case group. The results of cranial MRI examination of all patients showed cerebellar atrophy. In the same period, 41 cases of physical examination were selected as the control group. General clinical data and cranial MRI results of the 2 groups were collected. The maximum area and signal of dentate nucleus, the maximum width of the brachium pontis, the maximum anterior-posterior diameter of the pontine, and the maximum transverse area of the fourth ventricle were compared between the 2 groups. The indexes with difference were further subjected to logistic regression analysis to clarify the characteristic imaging changes in patients with cerebellar atrophy after epilepsy. RESULTS: Compared with the control group, the maximum width of the brachium pontis and the maximum anterior-posterior diameter of the pontine were decreased significantly, the maximum transverse area of the fourth ventricle was increased significantly in the case group (all P<0.05). The difference in distribution of the low, equal, and high signal in dentate nucleus between the 2 groups was statistically significant (χ²=43.114, P<0.001), and the difference in the maximum area of dentate nucleus between the 2 groups was not significant (P>0.05). The maximum width of the brachium pontis [odds ratio (OR)=3.327, 95% CI 1.454 to 7.615, P=0.004] and the maximum transverse area of the fourth ventricle (OR=0.987, 95% CI 0.979 to 0.995, P=0.002) were independent factors that distinguished cerebellar atrophy after epilepsy from the normal control, while the anterior-posterior diameter of pontine (OR=1.456, 95% CI 0.906 to 2.339, P>0.05) was not an independent factor that distinguished them. CONCLUSIONS In MRI imaging, cerebellar atrophy after epilepsy is manifested as significant atrophy of the brachium pontis, significant enlargement of the fourth ventricle, and increased dentate nucleus signaling while insignificant dentate nucleus atrophy. This particular pattern may be associated with seizures and exacerbated pathological processes.
Humans ; Magnetic Resonance Imaging ; Pons ; Epilepsy/diagnostic imaging* ; Atrophy/pathology* ; Cerebellum/pathology*

Palatal tremor is a rare disorder characterized by involuntary rhythmic movements of the soft palate. Palatal tremor is devided into symptomatic palatal tremor(SPT) and essential palatal tremor(EPT) on the basis of clinical features. SPT is associated with brain stem or cerebellar disease, whereas the EPT has no known etiology. Reverberant neural activity in the region of the brain stem or cerebellum within the Guillain-Mollaret triangle is believed to underlie SPT. We present a case of SPT associated with cerebellar lesion. Electromyographic recording from the levator veli palatini muscle and voice spectrogram analysis showed abnormal bursting activity time locked to the palatal movements. Botulinum toxin was injected into the levator veli palatini muscle to reduce the voice tremor. The pathology and management of this condition is briefly discussed.
Botulinum Toxins ; Brain Stem ; Cerebellar Diseases ; Cerebellum ; Hemorrhage* ; Palate, Soft ; Pathology ; Tremor* ; Voice

OBJECTIVETo investigate the abnormality of position of the cerebellar tonsil and somatosensory evoked potentials (SEP) in adolescent idiopathic scoliosis (AIS), and to explore its clinical significance.

METHODSSagittal magnetic resonance imaging (MRI) of hindbrain and posterior tibial nerve SEP (PTN-SEP) were performed on 171 young operative treated AIS patients. The PTN-SEP obtained from 45 age-matched healthy control individuals were considered as standard values. Tonsillar ectopia (TE) was defined as any inferior displacement of the tonsils. Absence of SEP waveforms, prolongation of peek latency or asymmetrical peek latency were defined as pathological change. The incidence of TE and pathological SEP was determined in all AIS patients. The association of TE and abnormal SEP for AIS patients was also assessed.

RESULTSThe incidence of TE and abnormal SEP in AIS patients was 36.8% (63/171) and 36.3% (62/171), respectively. It was shown the frequency of TE and abnormal SEP were not significantly different among AIS patients with different curve severity. Statistical analysis failed to show a correlation between TE and abnormal SEP.

CONCLUSIONSTE and disorder of somatosensory pathways do exist in a subgroup of AIS patients. However, there is not a significant association between TE and abnormal somatosensory function. It is suggested that TE and disorder of somatosensory function might contributes to different etiopathogenesis of AIS.

Adolescent ; Case-Control Studies ; Cerebellum ; pathology ; Child ; Evoked Potentials, Somatosensory ; physiology ; Female ; Humans ; Male ; Scoliosis ; pathology ; physiopathology

OBJECTIVE: To observe the cell apoptosis explore closed cerebellar contusion in rat. METHODS: SD rats model of contusion was established and apototic cells were detected by TUNEL method at 5, 10, 30, 45, 60 min and 2, 4, 6, 8, 12 h, after injury. RESULTS: Apototic cells in contusion area appeared at 1 h after closed cerebellar contusion, reached the peak at 4-6 h, then decreased and so as marginal area where the peak was in 6-8 h. CONCLUSION The apoptotic index of closed contusion of cerebellum in different injury time may provide a new sensitive and objective method for the forensic early injury time estimation.
Animals ; Apoptosis/physiology* ; Brain Injuries/pathology* ; Cerebellum/pathology* ; Female ; In Situ Nick-End Labeling ; Male ; Rats ; Rats, Sprague-Dawley ; Time Factors

PURPOSE: To report the incidence and new findings of abnormal brain imaging studies associated with patients initially diagnosed with Leber's congenital amaurosis (LCA) without definite systemic abnormalities and to determine the need for brain imaging studies in these patients. METHODS: A retrospective review of medical records was performed in 83 patients initially diagnosed as LCA and without definite systemic abnormalities before the age of 6 months in 2 tertiary referral centers. Brain magnetic resonance imaging was performed in 31 of 83 patients (37.3%). RESULTS: Six of 31 patients (19%) had radiologically documented brain abnormalities. Two patients had cerebellar vermis hypoplasia, 1 patient showed an absence of septum pellucidum, 2 subjects showed mild external hydrocephalus, and 1 patient was found to have a small cerebellum. CONCLUSIONS: Approximately one fifth of the LCA patients in whom brain imaging was performed were associated with brain abnormalities, including the absence of septum pellucidum, which has not been documented in the literature. Brain imaging is mandatory in patients primarily diagnosed with LCA, even without definite neurologic or systemic abnormalities.
Brain/*pathology ; Cerebellum/pathology ; Female ; Humans ; Hydrocephalus/pathology ; Infant ; Leber Congenital Amaurosis/*diagnosis ; *Magnetic Resonance Imaging ; Retrospective Studies ; Septum Pellucidum/pathology

Dandy-Walker variant is a developmental malformation consisting of cerebellar hypoplasia and cystic dilatation of the fourth ventricle. Previous research has proposed a possible role for the cerebellum in cognition and in schizophrenia. In this paper we report a schizophrenia-like psychotic disorder in a 30 year-old woman with Dandy-Walker variant. The patient was treated with risperidone 6 mg/day, biperiden 4 mg/day and risperidone depot 50 mg injections fortnightly, and most of the symptoms were ameliorated within 2 months. The similar cognitive profile to populations with cerebellar pathology and rarity of the condition strongly suggests that there may be direct relationship between cerebellar pathology and appearence of psychotic symptoms.
Adult ; Biperiden ; Cerebellum ; Cognition ; Comorbidity* ; Dandy-Walker Syndrome* ; Dilatation ; Female ; Fourth Ventricle ; Humans ; Pathology ; Psychotic Disorders* ; Risperidone ; Schizophrenia

The advant of computerized cranial tomography represents a great advance in the diagnosis of very wide varietyof intracranial lesions. The CT findings of brain tumors have been reported by many authors, especially by Hatamin early contrast enhancement and evaluation of the intracranial lesions. A statistical analysis was performedwith 84 brain tumors cases of with diagnoses were confiremd at the department of Radiology and Pathology of theMiddlesex Hospital London from Jan. 1979 to Dec. 1980. The authors classified the intracranial tumors according toRussel and Rubinsteins classification, and especially for the changes after CT introduction. The results were asfollows; 1. Brain tumors were found most frequently in middle age group (25.7%) and the ration of male to femalwas 2:1. 2. Among the brain tumors, gliomas were found most frequently (57.1%), followed by Meningioma(20.2%),Metastatic tumors(11.9%), and pituitary adenomas (4.8%). 3. The incidence of glioma occupied(57.1%) of all braintumors and as a entity these were the highest. 4. Brain tumors occured more fequently in frontal regions (27.4%),parietal regions(17.0%), sella and para sella-regions(11.9%), cerebellum regions(9.5%). 5. Gliomas occured morefrequently inn temporal regions (20.2%) and followed by frontal regions (16.7%). 6. Since the advant of CT scan,the detection rate of brain tumors was increased, but there was no specific change in proportion of tumors.
Brain Neoplasms ; Brain ; Cerebellum ; Classification ; Diagnosis ; Glioma ; Humans ; Incidence ; Male ; Middle Aged ; Pathology ; Pituitary Neoplasms ; Temporal Lobe

In this case report, we present a mock-transduced bone marrow (BM) transplantation in a mouse, which was found moribund and autopsied to evaluate pathogenesis. Macroscopically, red discoloration of systemic organs was observed. Hematological values revealed a decrease in white blood cells, red blood cells, hematocrit, hemoglobin, and platelets, but an increase in reticulocytes. In BM cytology, hematopoietic cell lines were severely depleted. Histopathologically, hemorrhage in the cerebellar parenchyma, hemosiderin deposition and hemorrhage in the heart, necrosis and telangiectasia in liver, pulmonary parenchymal cysts, spermatogenic germ cells necrosis, atrophy and hemorrhage in testis, oligospermia and hemorrhage in the epididymis, and atrophy of BM, thymus and spleen were observed. In conclusion, autoimmune-like complications such as hematological value change, BM dysplasia and systemic hemorrhage appear to be the lethal cause of the mouse transplanted with mock-transduced BM.
Animals ; Bone Marrow/pathology ; Bone Marrow Transplantation/*adverse effects ; Cerebellum/pathology ; Hemorrhage/pathology ; Liver/pathology ; Lung/pathology ; Male ; Mice ; Mice, Inbred C57BL ; Myocardium/pathology ; Testis/pathology ; Thymus Gland/pathology