cerebellar syndrome
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2022 ◽  
Vol 47 (2) ◽  
pp. 130-132
Jan Booij ◽  
Judit A. Adam ◽  
Maaike S. van Eerde ◽  
Irene M. Bronner

2022 ◽  
Vol 13 ◽  
pp. 7
Luis David Molina Andaluz ◽  
Josué Alejandro Cervantes Gonzalez ◽  
Zita Elizabeth Salazar Ramírez ◽  
Nelly Ramírez ◽  
Luis Guillermo Castellanos ◽  

Background: Solitary bone plasmacytoma is a plasmatic cell dyscrasia; its presentation in the posterior fossa is very rare. Case Description: We present two cases, a 59-year-old male and a 50-year-old female, both with heterogeneous clinical presentation. One had symptoms compatible with endocranial hypertension, and the other presented with a hemispheric cerebellar syndrome and ipsilateral trigeminal neuralgia. They were both related to an intraosseous tumor of the occipital region near the torcula with large extension to the posterior fossa. The diagnosis of a plasma cell neoplasm arising from the diploe of the squamous portion of the occipital bone was confirmed with immunohistochemistry. Conclusion: The treatment for a cranial tumor that is suspected to be a solitary bone plasmacytoma requires a multidisciplinary team to diagnose, plan a total resection, and after surgery continue with the follow-up of the patient. Solitary bone plasmacytoma should be considered as a differential diagnosis for a tumor that produces cancellous bone widening without sclerotic borders.

2021 ◽  
pp. 1-3
Ioana Maria Ion ◽  
Anca Badoiu ◽  
Eric Thouvenot ◽  
Morgane Petot ◽  
Vincent Boudousq ◽  

Multiple paraneoplastic syndromes are a rare clinical manifestation. We describe the case of an 82-year-old woman who presented with neurological (rapidly progressive cerebellar syndrome and combined sensory-motor neuronopathy) and rheumatological (palmar fasciitis and polyarthritis syndrome) paraneoplastic syndromes associated with two onconeural antibodies (anti-Yo and Zic4), that revealed an ovarian cancer. The involvement of multiple organ systems should be a clue to take into consideration a paraneoplastic etiology that could permit early detection of cancer. However, despite the existence of treatments, the prognosis of these conditions remains poor.

2021 ◽  
pp. jnnp-2021-326656
Cristina Valencia-Sanchez ◽  
Andrew M Knight ◽  
M Bakri Hammami ◽  
Yong Guo ◽  
John R Mills ◽  

ObjectivesTo report the expanded neurological presentations and oncological associations of tripartite motif-containing protein 46 (TRIM46)-IgG seropositive patients.MethodsArchived sera/cerebrospinal fluid (CSF) were evaluated by tissue-based immunofluorescence assay to identify patients with identical axon initial segment (AIS)-specific staining pattern. Phage immunoprecipitation sequencing (PhIP-Seq) was used to identify the putative autoantigen.ResultsIgG in serum (17) and/or CSF (16) from 25 patients yielded unique AIS-specific staining on murine central nervous system (CNS) tissue. An autoantibody specific for TRIM46 was identified by PhIP-Seq, and autoantigen specificity was confirmed by transfected COS7 cell-based assay. Clinical information was available for 22 TRIM46-IgG seropositive patients. Fifteen were female (68%). Median age was 67 years (range 25–87). Fifteen (68%) patients presented with subacute cerebellar syndrome (six isolated; nine with CNS accompaniments: encephalopathy (three), brainstem signs (two), myelopathy (two), parkinsonism (one)). Other phenotypes included limbic encephalitis (three), encephalopathy with/without seizures (two), myelopathy (two). Eighteen (82%) had cancer: neuroendocrine carcinomas (9; pancreatic (3), small-cell lung (4), oesophagus (1), endometrium (1)), adenocarcinomas (6; lung (2), ovarian (2), endometrial (1), breast (1)), sarcoma (2) and gastrointestinal tumour (1). Neurological symptoms in three followed immune checkpoint inhibitor (ICI) administration.ConclusionsThis study supports TRIM46-IgG being a biomarker of paraneoplastic CNS disorders and expands the neurological phenotypes, oncological and ICI-related adverse event associations.

2021 ◽  
Vol 15 (4) ◽  
pp. 548-549
Janaina Mariana de Araujo Miranda Brito-Marques ◽  
Eduardo Sousa de Melo ◽  
Fabíola Lys de Medeiros ◽  
Cristiano Sobral de Carvalho ◽  
Paulo Roberto de Brito-Marques

ABSTRACT. We reported a case of a 61-year-old male patient with anacusis, cerebellar syndrome, myoclonus, and frontal signs. The brain magnetic resonance imaging showed bilateral striated hyperintensity of the fluid-attenuated inversion recovery and restricted diffusion in the diffusion-weighted imaging and hypointense areas corresponding to the apparent diffusion coefficient in the cerebral cortex. The autopsy revealed positive immunohistochemistry for the PrPSc protein. Creutzfeldt–Jakob disease presenting with hearing loss is unusual.

Neurogenetics ◽  
2021 ◽  
Berardo Rinaldi ◽  
Yu-Han Ge ◽  
Elena Freri ◽  
Arianna Tucci ◽  
Tiziana Granata ◽  

AbstractAMPA-type glutamate receptors (AMPARs) are postsynaptic ionotropic receptors which mediate fast excitatory currents. AMPARs have a heterotetrameric structure, variably composed by the four subunits GluA1-4 which are encoded by genes GRIA1-4. Increasing evidence support the role of pathogenic variants in GRIA1-4 genes as causative for syndromic intellectual disability (ID). We report an Italian pedigree where some male individuals share ID, seizures and facial dysmorphisms. The index subject was referred for severe ID, myoclonic seizures, cerebellar signs and short stature. Whole exome sequencing identified a novel variant in GRIA3, c.2360A > G, p.(Glu787Gly). The GRIA3 gene maps to chromosome Xq25 and the c.2360A > G variant was transmitted by his healthy mother. Subsequent analysis in the family showed a segregation pattern compatible with the causative role of this variant, further supported by preliminary functional insights. We provide a detailed description of the clinical evolution of the index subjects and stress the relevance of myoclonic seizures and cerebellar syndrome as cardinal features of his presentation.

V. Fernández Escobar ◽  
M. del Pozo Carlavilla ◽  
R. Ruiz Garcia ◽  
M.I. Buedo Rubio

Genes ◽  
2021 ◽  
Vol 12 (7) ◽  
pp. 956
Magdalena Badura-Stronka ◽  
Anna Winczewska-Wiktor ◽  
Anna Pietrzak ◽  
Adam Sebastian Hirschfeld ◽  
Tomasz Zemojtel ◽  

CLN8 is a ubiquitously expressed membrane-spanning protein that localizes primarily in the ER, with partial localization in the ER-Golgi intermediate compartment. Mutations in CLN8 cause late-infantile neuronal ceroid lipofuscinosis (LINCL). We describe a female pediatric patient with LINCL. She exhibited a typical phenotype associated with LINCL, except she did not present spontaneous myoclonus, her symptoms occurrence was slower and developed focal sensory visual seizures. In addition, whole-exome sequencing identified a novel homozygous variant in CLN8, c.531G>T, resulting in p.Trp177Cys. Ultrastructural examination featured abundant lipofuscin deposits within mucosal cells, macrophages, and monocytes. We report a novel CLN8 mutation as a cause for NCL8 in a girl with developmental delay and epilepsy, cerebellar syndrome, visual loss, and progressive cognitive and motor regression. This case, together with an analysis of the available literature, emphasizes the existence of a continuous spectrum of CLN8-associated phenotypes rather than a sharp distinction between them.

Neurology ◽  
2021 ◽  
pp. 10.1212/WNL.0000000000012051
Katryn Oosthuizen ◽  
Elizabeth Christina Steyn ◽  
Lawrence Tucker ◽  
Innocent Vusumusi Ncube ◽  
Diana Hardie ◽  

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