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Query: UMLS:C0004134 (ataxia)
 15,886 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We observed a patient with subcutaneous seeding from gliomatosis cerebri with a low-grade histopathology. A 33-year-old woman with neurofibromatosis type 1 presented with progressive headache, diplopia, dysphagia, and a rightward instability. On neurological examination dysarthria, gait ataxia, and left-sided central facial and hypoglossal palsies were determined. MRI of the brain demonstrated diffuse, infiltrative non-enhancing lesions in the pons, both cerebellar hemispheres, the parahippocampal gyrus, and the thalamus. A stereotactic biopsy demonstrated an astrocytoma WHO grade 2. These characteristics confirmed gliomatosis cerebri. Three months later, the patient presented with hydrocephalus and a subcutaneous swelling directly underneath the surgical scar. The subcutaneous swelling was removed and the hydrocephalus was treated by ventriculoperitoneal shunting. Histopathological examination confirmed a subcutaneous manifestation of low-grade oligoastrocytoma. Gliomatosis cerebri with low-grade histology can seed subcutaneously.
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PMID:Subcutaneous tumor seeding after biopsy in gliomatosis cerebri. 2183 41

Increasing use of neuroimaging in children has led to more incidental findings of CNS mass lesions, the management of which is uncertain. The authors' aims in this study are to describe these mass lesions and their evolution, as well as to discuss the management options and determine the prevalence of incidental CNS mass lesions at their pediatric clinic. A retrospective study was undertaken in children with primary CNS tumors who were younger than 18 years old and were admitted to the University Children's Hospital of Zurich, Switzerland, between January 1995 and December 2010. In 19 (5.7%) of 335 patients with newly diagnosed CNS tumors, the diagnosis of a CNS mass lesion was an incidental finding. Reasons for obtaining neuroimages in these 19 patients were head trauma (in 6 patients); research protocols (in 3); nasal/orbital malformations (in 2); endocrinological and psychiatric evaluations (in 2); and vertebral bone anomaly without neurological signs, absence seizures, congenital ataxia, recurrent vomiting, developmental delay, and "check-up" at the explicit request of the parents (in 1 patient each). Seven patients underwent immediate surgery for low-grade glioma (4 patients) and craniopharyngioma, ependymoma, and choroid plexus papilloma (1 patient each); and 12 were treated conservatively or were observed. Ten of 12 conservatively treated patients remained stable (median follow-up time 1.8 years) and the other 2 underwent delayed surgery because of tumor progression (medulloblastoma in one patient and fibrillary astrocytoma in the other). Clinicians are increasingly challenged by the discovery of incidental CNS mass lesions. A subgroup of such lesions (with typical imaging patterns such as tectal glioma and dysembryoplastic neuroepithelial tumor) can be monitored conservatively, clinically, and radiographically. Future prospective studies are needed to define optimal management strategies based on larger collections of natural histories, as well as to assess the true prevalence of incidental CNS mass lesions.
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PMID:Incidental findings of mass lesions on neuroimages in children. 2213 79

This report shows the results of stereotactic radiation therapy for progressive residual pilocytic astrocytomas. Medical records of patients who had undergone stereotactic radiation therapy for a progressive residual pilocytic astrocytoma were reviewed. Between 1995 and 2010, 12 patients with progression of a residual pilocytic astrocytoma underwent stereotactic radiation therapy at UCLA. Presentation was headache (4), visual defects (3), hormonal disturbances (2), gelastic seizures (2) and ataxia (1). MRI showed a cystic (9), mixed solid/cystic (2) or solid tumor (1); located in the hypothalamus (5), midbrain (3), thalamus (2), optic chiasm (1) or deep cerebellum (1). Median age was 21 years (range 5-41). Nine tumors received stereotactic radiotherapy (SRT). Three tumors received stereotactic radiosurgery (SRS), two of them to their choline positive regions. SRT median total dose was 50.4 Gy (40-50.4 Gy) in a median of 28 fractions (20-28), using a median fraction dose of 1.8 Gy (1.8-2 Gy) to a median target volume of 6.5 cm(3). (2.4-33.57 cm(3)) SRS median dose was 18.75 Gy (16.66-20 Gy) to a median target volume of 1.69 cm(3) (0.74-2.22 cm(3)). Median follow-up time was 37.5 months. Actuarial long-term progression-free and disease-specific survival probabilities were 73.3 and 91.7 %, respectively. No radiation-induced complications were observed. Stereotactic radiation therapy is a safe and effective modality to control progressive residual pilocytic astrocytomas. Better outcomes are obtained with SRT to entire tumor volumes than with SRS targeting choline positive tumor regions.
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PMID:Stereotactic radiation therapy for progressive residual pilocytic astrocytomas. 2264 36

Brainstem gliomas are neoplasms primarily affecting children. Depending on the type, they usually present with varying combination of multiple bilateral or unilateral cranial nerve palsies, long-tract signs, ataxia and sometimes hydrocephalus. Though movement disorders have been reported in association with basal ganglia and thalamic tumours, hemi-chorea, as a presentation of brainstem glioma, has not been reported till date. I present a case of a 9-year-old female child, who presented with complaints of difficulty in walking and involuntary movements affecting the left upper and lower limb. On examination, she had chorea involving left side of the body, bilateral lateral rectus palsy, with spasticity of right upper and lower limb. CT scan and MRI of the brain showed focal glioma involving the upper pons and midbrain. The patient underwent surgery in the form of sub-occipital craniotomy and tumour removal. Postoperative imaging studies showed no residual tumour. Histopathological examination was suggestive of pilocytic astrocytoma grade 1. Postoperatively hemi-chorea decreased in intensity, but did not disappear completely.
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PMID:Hemi-chorea: an unusual presentation of brainstem glioma. 2317 Nov 49

A 70-year-old man presented with left-sided eye pain, impaired vision and restricted left ocular motility, later developing progressive visual decline with development of ataxia and incontinence. Fundoscopic examination revealed significant optic nerve head edema and hemorrhage on the left eye. Neuroimaging revealed an optic pathway mass, extending from the right optic nerve to the chiasm, which enlarged on serial imaging. After surgical excision of the mass, pathology showed a grade III astrocytoma. The patient died 16 months after presentation, which is longer than previously reported for late adult onset optic pathway astrocytoma. We believe that neuroimaging and pathological studies should be performed early in such patients to allow early diagnosis and intervention.
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PMID:Late adult onset optic pathway astrocytoma. 2379 Jun 23

A 13-week-old male intact Poodle mix dog developed an acute onset of vestibular ataxia, tetraparesis, and vomiting. The patient presented ambulatory, tetraparetic, and ataxic with a head tilt to the left and a disconjugate nystagmus (rotary nystagmus with fast phase to the right in right eye and vertical nystagmus in left eye). There were absent postural reactions in the left pelvic and left thoracic limbs and decreased right-sided postural reactions. Magnetic resonance imaging demonstrated an intra-axial mass within the left midcaudal medulla oblongata. On gross dissection, there was a left-sided neoplasm in the medulla oblongata with surrounding hemorrhage. The histologic findings indicated that the mass was a pleomorphic xanthoastrocytoma. This tumor, an uncommon variant of an astrocytoma most often seen in children and young adult humans, has yet to be described in dogs.
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PMID:Pleomorphic xanthoastrocytoma within the medulla oblongata of a young dog. 2468 91

The aim of this study was to specify whether cerebellar lesions cause visuospatial impairments in children. The study sample consisted of 40 children with low-grade cerebellar astrocytoma, who underwent surgical treatment and 40 healthy controls matched with regard to age and sex. Visuospatial abilities were tested using the spatial WISC-R subtests (Block Design and Object Assembly), Rey-Osterrieth Complex Figure, Benton Judgment of Line Orientation Test, PEBL Mental Rotation Task, and Benton Visual Retention Test. To exclude general diffuse intellectual dysfunction, the WISC-R Verbal Intelligence IQ, Performance IQ, and Full-Scale IQ scores were analysed. Post-surgical medical consequences were measured with the International Cooperative Ataxia Rating Scale. Compared to controls, the cerebellar group manifested problems with mental rotation of objects, visuospatial organization, planning, and spatial construction processes which could not be explained by medical complications or general intellectual retardation. The intensity of visuospatial syndrome highly depends on cerebellar lesion side. Patients with left-sided cerebellar lesions display more severe spatial problems than those with right-sided cerebellar lesions. In conclusion, focal cerebellar lesions in children affect their visuospatial ability. The impairments profile is characterized by deficits in complex spatial processes such as visuospatial organization and mental rotation, requiring reconstruction of visual stimuli using the imagination, while elementary sensory analysis and perception as well as spatial processes requiring direct manipulation of objects are relatively better preserved. This pattern is analogous to the one previously observed in adult population and appears to be typical for cerebellar pathology in general, regardless of age.
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PMID:The visuospatial functions in children after cerebellar low-grade astrocytoma surgery: A contribution to the pediatric neuropsychology of the cerebellum. 2663 81

Past studies of morbidity in patients with infiltrating gliomas have focused on the impact of surgery on quality of life. Surprisingly, little attention has been given to the rate at which the presenting symptoms improve after surgery, even though this is often the patient's first concern. This study is an initial effort to provide useful information about symptom resolution and factors predicting persistence of symptoms in glioma patients who undergo surgery. We conducted a retrospective analysis on patients who underwent surgery for World Health Organization (WHO) grade II-IV astrocytoma/oligodendroglioma/oligoastrocytoma at our institution. All patients were seen 2-4months postoperatively, and asked about the persistence of symptoms they experienced preoperatively. Symptoms reported in clinic were assessed against symptoms reported prior to surgery. Our study includes 56 consecutive patients undergoing surgery for gliomas. Of patients who experienced symptoms initially, headache resolved in 18/27 postoperatively, weakness resolved in 8/14 postoperatively, altered mental status resolved in 8/12 postoperatively, vision problems resolved in 7/11 postoperatively, nausea resolved in 5/7 postoperatively, and ataxia resolved in 4/5 postoperatively. Headache was more likely to resolve in patients with frontal or temporal tumors (p=0.02). Preoperative Karnofsky Performance Scale (KPS) of 70 or less was associated with longer postsurgical hospital stay (p<0.01). Younger patients were more likely to experience a resolution of altered mental status (p=0.04). Our analysis provides data regarding the rate at which surgery alleviates patient symptoms and considers variables predicting likelihood of symptom resolution. Some patients will experience symptom resolution following resection of WHO grade II-IV gliomas in the months following surgery.
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PMID:Symptom resolution in infiltrating WHO grade II-IV glioma patients undergoing surgical resection. 2739 79

Pediatric posterior fossa (PF) tumor survivors experience long-term motor deficits. Specific cerebrocerebellar connections may be involved in incidence and severity of motor dysfunction. We examined the relationship between long-term ataxia as well as fine motor function and alteration of differential cerebellar efferent and afferent pathways using diffusion tensor imaging (DTI) and tractography. DTI-based tractography was performed in 19 patients (10 pilocytic astrocytoma (PA) and 9 medulloblastoma patients (MB)) and 20 healthy peers. Efferent Cerebello-Thalamo-Cerebral (CTC) and afferent Cerebro-Ponto-Cerebellar (CPC) tracts were reconstructed and analyzed concerning fractional anisotropy (FA) and volumetric measurements. Clinical outcome was assessed with the International Cooperative Ataxia Rating Scale (ICARS). Kinematic parameters of fine motor function (speed, automation, variability, and pressure) were obtained by employing a digitizing graphic tablet. ICARS scores were significantly higher in MB patients than in PA patients. Poorer ICARS scores and impaired fine motor function correlated significantly with volume loss of CTC pathway in MB patients, but not in PA patients. Patients with pediatric post-operative cerebellar mutism syndrome showed higher loss of CTC pathway volume and were more atactic. CPC pathway volume was significantly reduced in PA patients, but not in MB patients. Neither relationship was observed between the CPC pathway and ICARS or fine motor function. There was no group difference of FA values between the patients and healthy peers. Reduced CTC pathway volumes in our cohorts were associated with severity of long-term ataxia and impaired fine motor function in survivors of MBs. We suggest that the CTC pathway seems to play a role in extent of ataxia and fine motor dysfunction after childhood cerebellar tumor treatment. DTI may be a useful tool to identify relevant structures of the CTC pathway and possibly avoid surgically induced long-term neurological sequelae.
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PMID:DTI fiber tractography of cerebro-cerebellar pathways and clinical evaluation of ataxia in childhood posterior fossa tumor survivors. 2778 88

Ataxia-oculomotor apraxia type 4 (AOA4) is a rare autosomal recessive neurologic disorder. The phenotype is characterized by ataxia, oculomotor apraxia, peripheral neuropathy and dystonia. AOA4 is caused by biallelic pathogenic variants in the PNKP gene encoding a polynucleotide kinase 3'-phosphatase with an important function in DNA-damage repair. By whole exome sequencing, we identified 2 variants within the PNKP gene in a 27-year-old German woman with a clinical AOA phenotype combined with a cerebellar pilocytic astrocytoma diagnosed at 23 years of age. One variant, a duplication in exon 14 resulting in the frameshift c.1253_1269dup p.(Thr424fs*49), has previously been described as pathogenic, for example, in cases of AOA4. The second variant, representing a nonsense mutation in exon 17, c.1545C>G p.(Tyr515*), has not yet been described and is predicted to cause a loss of the 7 C-terminal amino acids. This is the first description of AOA4 in a patient with central European descent. Furthermore, the occurrence of a pilocytic astrocytoma has not been described before in an AOA4 patient. Our data demonstrate compound heterozygous PNKP germline variants in a German patient with AOA4 and provide evidence for a possible link with tumor predisposition. Localization of the 2 variants in human PNKP NP_009185.2. NM_007254.3:c.1253_1269dup p.(Thr424fs*49) is predicted to cause a frameshift within the kinase domain, NM_007254.3:c.1545C>G p.(Tyr515*) is predicted to cause loss of 2 C-terminal amino acids of the kinase domain and 5 additional C-terminal amino acids.
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PMID:Rare compound heterozygous variants in PNKP identified by whole exome sequencing in a German patient with ataxia-oculomotor apraxia 4 and pilocytic astrocytoma. 2949 15


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