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1.
Int J Mol Sci ; 22(7)2021 Mar 29.
Artigo em Inglês | MEDLINE | ID: mdl-33805296

RESUMO

The aim of this study was to compare the patterns of cerebellar alterations associated with bipolar disease with those induced by the presence of cerebellar neurodegenerative pathologies to clarify the potential cerebellar contribution to bipolar affective disturbance. Twenty-nine patients affected by bipolar disorder, 32 subjects affected by cerebellar neurodegenerative pathologies, and 37 age-matched healthy subjects underwent a 3T MRI protocol. A voxel-based morphometry analysis was used to show similarities and differences in cerebellar grey matter (GM) loss between the groups. We found a pattern of GM cerebellar alterations in both bipolar and cerebellar groups that involved the anterior and posterior cerebellar regions (p = 0.05). The direct comparison between bipolar and cerebellar patients demonstrated a significant difference in GM loss in cerebellar neurodegenerative patients in the bilateral anterior and posterior motor cerebellar regions, such as lobules I-IV, V, VI, VIIIa, VIIIb, IX, VIIb and vermis VI, while a pattern of overlapping GM loss was evident in right lobule V, right crus I and bilateral crus II. Our findings showed, for the first time, common and different alteration patterns of specific cerebellar lobules in bipolar and neurodegenerative cerebellar patients, which allowed us to hypothesize a cerebellar role in the cognitive and mood dysregulation symptoms that characterize bipolar disorder.


Assuntos
Transtorno Bipolar/patologia , Doenças Cerebelares/patologia , Cerebelo/patologia , Substância Cinzenta/patologia , Adulto , Atrofia/diagnóstico por imagem , Atrofia/patologia , Transtorno Bipolar/diagnóstico por imagem , Doenças Cerebelares/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Feminino , Substância Cinzenta/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Doenças Neurodegenerativas/diagnóstico por imagem , Doenças Neurodegenerativas/patologia
2.
J Med Case Rep ; 15(1): 111, 2021 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-33653404

RESUMO

BACKGROUND: Most sudden-onset hearing loss is due to otolaryngologic- and very rarely to cerebrovascular disease. We report a woman with sudden bilateral sensorineural hearing loss. This case suggests that even in the absence of brainstem or cerebellar signs, magnetic resonance imaging (MRI) and MR angiography (MRA) should be performed since such studies may reveal signs of life-threatening vertebrobasilar artery occlusion. CASE PRESENTATION: A 73-year-old Japanese woman with a history of hypertension, hyperlipidemia, and atrial fibrillation who suffered bilateral deafness with vertigo and vomiting was transferred from a local hospital to our department. On admission her consciousness was clear and vertigo was absent. Neurological examination revealed only bilateral sensorineural hearing loss. Head computed tomography (CT) returned no significant findings. The next morning she gradually developed severe drowsiness. Diffusion-weighted MRI demonstrated acute cerebral infarction in the brainstem and bilateral cerebellum; MRA showed basilar artery occlusion due to a cardioembolic thrombus. Revascularization was obtained by endovascular treatment. However, her condition worsened progressively during the following hours. CT revealed new brainstem lesions, massive cerebellar swelling, and obstructive hydrocephalus. She died on the second day after her admission. CONCLUSIONS: When hearing loss is due to vertebrobasilar occlusive disease, the prognosis is very poor. We suggest that vertebrobasilar stroke be suspected in patients with bilateral sensorineural hearing loss who present with risk factors for stroke such as atrial fibrillation and other neurologic signs.


Assuntos
Infartos do Tronco Encefálico/complicações , Doenças Cerebelares/complicações , Perda Auditiva Bilateral/etiologia , Perda Auditiva Súbita/etiologia , Diagnóstico Ausente , Insuficiência Vertebrobasilar/complicações , Idoso , Fibrilação Atrial/complicações , Artéria Basilar/diagnóstico por imagem , Infartos do Tronco Encefálico/diagnóstico por imagem , Doenças Cerebelares/diagnóstico por imagem , Imagem de Difusão por Ressonância Magnética , Feminino , Humanos , Hiperlipidemias/complicações , Hipertensão/complicações , Angiografia por Ressonância Magnética , Imagem por Ressonância Magnética , Artéria Vertebral/diagnóstico por imagem , Insuficiência Vertebrobasilar/diagnóstico por imagem
3.
BMJ Case Rep ; 14(2)2021 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-33526534

RESUMO

A 73-year-old man who presented with fever and abdominal discomfort was diagnosed to have a liver abscess. He was treated with antimicrobials which included metronidazole. One month into treatment, he developed neurological symptoms and signs that were suggestive of cerebellar pathology. MRI of the brain showed T2/fluid attenuated inversion recovery hyperintensities involving bilateral dentate, fastigial and interpositus nuclei. After excluding common aetiologies, the possibility of metronidazole-induced neurotoxicity was considered. After stopping metronidazole, his symptoms and signs resolved. A subsequent MRI scan of the brain showed reversal of changes. Neurotoxicity caused by metronidazole is an uncommon adverse effect of a commonly used antimicrobial drug and should be considered in the appropriate clinical scenario.


Assuntos
Antibacterianos/efeitos adversos , Doenças Cerebelares/induzido quimicamente , Núcleos Cerebelares/diagnóstico por imagem , Abscesso Hepático/tratamento farmacológico , Metronidazol/efeitos adversos , Idoso , Ataxia/induzido quimicamente , Ataxia/fisiopatologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/fisiopatologia , Duração da Terapia , Disartria/induzido quimicamente , Disartria/fisiopatologia , Humanos , Abscesso Hepático/diagnóstico por imagem , Imagem por Ressonância Magnética , Masculino , Síndromes Neurotóxicas/diagnóstico por imagem , Síndromes Neurotóxicas/etiologia
4.
Chest ; 159(2): e107-e113, 2021 02.
Artigo em Inglês | MEDLINE | ID: mdl-33563452

RESUMO

CASE PRESENTATION: A 53-year-old man presented to the ED at a time of low severe acute respiratory syndrome coronavirus 2, also known as coronavirus disease 2019 (COVID-19), prevalence and reported 2 weeks of progressive shortness of breath, dry cough, headache, myalgias, diarrhea, and recurrent low-grade fevers to 39°C for 1 week with several days of recorded peripheral capillary oxygen saturation of 80% to 90% (room air) on home pulse oximeter. Five days earlier, he had visited an urgent care center where a routine respiratory viral panel was reportedly negative. A COVID-19 reverse transcriptase polymerase chain reaction test result was pending at the time of ED visit. He reported a past medical history of gastroesophageal reflux disease that was treated with famotidine. Travel history included an out-of-state trip 3 weeks earlier, but no recent international travel.


Assuntos
/diagnóstico por imagem , Pulmão/diagnóstico por imagem , Bacteriemia/complicações , /fisiopatologia , Doenças Cerebelares/complicações , Doenças Cerebelares/diagnóstico por imagem , Tosse/fisiopatologia , Diarreia/fisiopatologia , Progressão da Doença , Dispneia/fisiopatologia , Serviço Hospitalar de Emergência , Febre/fisiopatologia , Cefaleia/fisiopatologia , Humanos , /diagnóstico por imagem , Linfopenia/fisiopatologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Mialgia/fisiopatologia , Oximetria , Pneumonia Estafilocócica/complicações , Radiografia Torácica , Infecções Estafilocócicas/complicações , Tomografia Computadorizada por Raios X
6.
Acta Neurol Taiwan ; 29(3): 86-89, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-32996116

RESUMO

PURPOSE: Focal signs are a big deal in neurology and are among the most important clues leading to diagnosis and localization. Wernekink commissure syndrome is due to lesions in the caudal paramedian midbrain involving the entire decussation of the superior cerebellar peduncles, resulting in the clinical hallmark of a bilateral cerebellar syndrome. CASE REPORT: A 79-year-old man presented with sudden, severe unsteadiness associated with slurring of speech, binocular double vision, and bilateral hand tremor. Examination showed right INO, moderately severe dysarthria, bilateral dysmetria and dysdiadochokinesia, with severe truncal ataxia and bilateral upper and lower limb ataxia. Also, bilateral coarse tremor was noted in both hands which was present at rest, action and on reaching for objects. Brain MRI revealed an acute infarction involving the Wernekinck decussation in the right caudal midbrain and mesencephalo-pontine junction. CONCLUSION: The differential of Wernekink Commissure Syndrome is complex, and localization and lateralization are extremely difficult owing to prominent bilateral cerebellar symptoms. The finding of an associated unilateral INO in some cases makes it possible to confidently narrow the list of differentials and localize the lesion to the paramedian tegmentum ipsilateral to the non-adducting eye.


Assuntos
Ataxia Cerebelar/etiologia , Doenças Cerebelares , Infarto Cerebral/complicações , Mesencéfalo/diagnóstico por imagem , Tegmento Mesencefálico/irrigação sanguínea , Idoso , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/etiologia , Infarto Cerebral/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Masculino , Transtornos da Motilidade Ocular/etiologia , Formação Reticular/patologia , Síndrome
7.
Am J Hum Genet ; 107(3): 564-574, 2020 09 03.
Artigo em Inglês | MEDLINE | ID: mdl-32822602

RESUMO

KAT5 encodes an essential lysine acetyltransferase, previously called TIP60, which is involved in regulating gene expression, DNA repair, chromatin remodeling, apoptosis, and cell proliferation; but it remains unclear whether variants in this gene cause a genetic disease. Here, we study three individuals with heterozygous de novo missense variants in KAT5 that affect normally invariant residues, with one at the chromodomain (p.Arg53His) and two at or near the acetyl-CoA binding site (p.Cys369Ser and p.Ser413Ala). All three individuals have cerebral malformations, seizures, global developmental delay or intellectual disability, and severe sleep disturbance. Progressive cerebellar atrophy was also noted. Histone acetylation assays with purified variant KAT5 demonstrated that the variants decrease or abolish the ability of the resulting NuA4/TIP60 multi-subunit complexes to acetylate the histone H4 tail in chromatin. Transcriptomic analysis in affected individual fibroblasts showed deregulation of multiple genes that control development. Moreover, there was also upregulated expression of PER1 (a key gene involved in circadian control) in agreement with sleep anomalies in all of the individuals. In conclusion, dominant missense KAT5 variants cause histone acetylation deficiency with transcriptional dysregulation of multiples genes, thereby leading to a neurodevelopmental syndrome with sleep disturbance, cerebellar atrophy, and facial dysmorphisms, and suggesting a recognizable syndrome.


Assuntos
Atrofia/genética , Doenças Cerebelares/genética , Deficiência Intelectual/genética , Lisina Acetiltransferase 5/genética , Anormalidades Múltiplas/diagnóstico por imagem , Anormalidades Múltiplas/genética , Anormalidades Múltiplas/fisiopatologia , Adolescente , Adulto , Atrofia/diagnóstico por imagem , Atrofia/fisiopatologia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/fisiopatologia , Pré-Escolar , Cromatina/genética , Montagem e Desmontagem da Cromatina/genética , Reparo do DNA/genética , Epilepsia/diagnóstico por imagem , Epilepsia/genética , Epilepsia/fisiopatologia , Feminino , Heterozigoto , Histonas/genética , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/fisiopatologia , Masculino , Mutação de Sentido Incorreto/genética , Processamento de Proteína Pós-Traducional/genética
8.
Cerebellum ; 19(6): 911-914, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32737799

RESUMO

Novel coronavirus (severe acute respiratory syndrome-coronavirus-2: SARS-CoV-2), which originated from Wuhan, China, has spread to the other countries in a short period of time. We report a 47-year-old male who was admitted to our hospital due to suffering from progressive vertigo and ataxia for 7 days prior to the admission. Neurological examination revealed cerebellar dysfunction, and brain magnetic resonance imaging (MRI) depicted edema of the cerebellar hemisphere associated with leptomeningeal enhancement. Cerebrospinal fluid (CSF) analysis showed mild lymphocytic pleocytosis, elevated protein, and lactate dehydrogenase. SARS-CoV-2 RNA was detected in the oropharyngeal/nasopharyngeal and CSF specimens. As a result, treatment with lopinavir/ritonavir was initiated, and patient symptoms and signs improved significantly during the course of hospitalization. To the best of our knowledge, this is the first case of acute cerebellitis associated with COVID-19 disease which is reported in the literature so far.


Assuntos
Betacoronavirus , Doenças Cerebelares/complicações , Doenças Cerebelares/diagnóstico por imagem , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico por imagem , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico por imagem , Doença Aguda , Humanos , Masculino , Pessoa de Meia-Idade , Pandemias
9.
Acta Neuropathol Commun ; 8(1): 147, 2020 08 26.
Artigo em Inglês | MEDLINE | ID: mdl-32847628

RESUMO

We document the neuropathologic findings of a 73-year old man who died from acute cerebellar hemorrhage in the context of relatively mild SARS-CoV2 infection. The patient developed sudden onset of headache, nausea, and vomiting, immediately followed by loss of consciousness on the day of admission. Emergency medical services found him severely hypoxemic at home, and the patient suffered a cardiac arrest during transport to the emergency department. The emergency team achieved return of spontaneous circulation after over 17 min of resuscitation. A chest radiograph revealed hazy bilateral opacities; and real-time-PCR for SARS-CoV-2 on the nasopharyngeal swab was positive. Computed tomography of the head showed a large right cerebellar hemorrhage, with tonsillar herniation and intraventricular hemorrhage. One day after presentation, he was transitioned to comfort care and died shortly after palliative extubation. Autopsy performed 3 h after death showed cerebellar hemorrhage and acute infarcts in the dorsal pons and medulla. Remarkably, there were microglial nodules and neuronophagia bilaterally in the inferior olives and multifocally in the cerebellar dentate nuclei. This constellation of findings has not been reported thus far in the context of SARS-CoV-2 infection.


Assuntos
Infartos do Tronco Encefálico/patologia , Doenças Cerebelares/patologia , Infecções por Coronavirus/patologia , Hemorragias Intracranianas/patologia , Microglia/patologia , Neurônios/patologia , Fagocitose , Pneumonia Viral/patologia , Idoso , Betacoronavirus , Infartos do Tronco Encefálico/complicações , Infartos do Tronco Encefálico/diagnóstico por imagem , Doenças Cerebelares/complicações , Doenças Cerebelares/diagnóstico por imagem , Núcleos Cerebelares/patologia , Infecções por Coronavirus/complicações , Infecções por Coronavirus/diagnóstico , Cefaleia/etiologia , Parada Cardíaca/etiologia , Humanos , Hipóxia/etiologia , Hemorragias Intracranianas/complicações , Hemorragias Intracranianas/diagnóstico por imagem , Masculino , Bulbo/diagnóstico por imagem , Bulbo/patologia , Núcleo Olivar/patologia , Pandemias , Pneumonia Viral/complicações , Pneumonia Viral/diagnóstico , Tegmento Pontino/diagnóstico por imagem , Tegmento Pontino/patologia , Tomografia Computadorizada por Raios X
11.
Rev Assoc Med Bras (1992) ; 66(3): 375-379, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-32520161

RESUMO

BACKGROUND: Symptomatic Chiari Type I Malformation (CM) is treated with posterior fossa decompression with or without duroplasty. We have noticed some cases with concomitant severe cerebellar ataxia due to cerebellar atrophy. The aim of this study is to review the literature of CM associated with severe cerebellar atrophy and discuss its potential physiopathology. METHODS: A systematic literature review in the Pubmed Database was performed using the following key-terms: "cerebellar atrophy Chiari", and "cerebellar degeneration Chiari". Articles reporting the presence of cerebellar degeneration/atrophy associated with CM were included. RESULTS: We found only six studies directly discussing the association of cerebellar atrophy with CM, with a total of seven cases. We added one case of our own practice for additional discussion. Only speculative causes were described to justify cerebellar atrophy. The potential causes of cerebellar atrophy were diffuse cerebellar ischemia from chronic compression of small vessels (the most mentioned speculative cause), chronic raised intracranial pressure due to CSF block, chronic venous hypertension, and association with platybasia with ventral compression of the brainstem resulting in injury of the inferior olivary nuclei leading to mutual trophic effects in the cerebellum. Additionally, it is not impossible to rule out a degenerative cause for cerebellar atrophy without a causative reason. CONCLUSIONS: Severe cerebellar atrophy is found in some patients with CM. Although chronic ischemia due to compression is the most presumed cause, other etiologies were proposed. The real reasons for cerebellar degeneration are not known. Further studies are necessary.


Assuntos
Malformação de Arnold-Chiari/fisiopatologia , Doenças Cerebelares/fisiopatologia , Malformação de Arnold-Chiari/diagnóstico por imagem , Atrofia , Doenças Cerebelares/diagnóstico por imagem , Cerebelo/anormalidades , Cerebelo/fisiopatologia , Cerebelo/cirurgia , Descompressão Cirúrgica , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino
12.
Am J Trop Med Hyg ; 103(2): 713-718, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32342852

RESUMO

Clinical worsening or new manifestation of cryptococcal disease following initiation of anti-retroviral therapy (ART) in an HIV patient is a hallmark of cryptococcal immune reconstitution inflammatory syndrome (C-IRIS). However, it can be difficult to distinguish IRIS from worsening or new infection. Here, we present a case of severe C-IRIS involving multiple cerebellar, spinal, and intradural abscesses and spinal arachnoiditis 7 months after ART initiation in an AIDS patient with uncertain prior ART compliance. He had multiple prior episodes of cryptococcal meningitis with complications necessitating ventriculoperitoneal shunt placement and was on suppressive fluconazole when he developed worsening brain manifestations. He received empiric anti-cryptococcal re-induction without improvement. All cerebrospinal fluid cultures remained sterile, with negative Cryptococcus PCR testing, and his condition continued to worsen prior to corticosteroid initiation. Ultimately, C-IRIS was diagnosed by brain biopsy. This case demonstrates an extreme in severity of C-IRIS and in the timeline of presentation after ART initiation.


Assuntos
Síndrome de Imunodeficiência Adquirida/tratamento farmacológico , Antirretrovirais/uso terapêutico , Antifúngicos/uso terapêutico , Abscesso Encefálico/diagnóstico por imagem , Empiema Subdural/diagnóstico por imagem , Síndrome Inflamatória da Reconstituição Imune/diagnóstico por imagem , Meningite Criptocócica/tratamento farmacológico , Anfotericina B/uso terapêutico , Anti-Inflamatórios/uso terapêutico , Aracnoide-Máter/patologia , Aracnoidite/congênito , Aracnoidite/diagnóstico por imagem , Aracnoidite/tratamento farmacológico , Biópsia , Encéfalo/patologia , Abscesso Encefálico/tratamento farmacológico , Edema Encefálico/diagnóstico por imagem , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/tratamento farmacológico , Empiema Subdural/tratamento farmacológico , Fluconazol/uso terapêutico , Flucitosina/uso terapêutico , Infecções por HIV/tratamento farmacológico , Humanos , Síndrome Inflamatória da Reconstituição Imune/tratamento farmacológico , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Prednisona/uso terapêutico , Recidiva
13.
J Clin Neurosci ; 76: 238-240, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32307300

RESUMO

The hot cross bun (HCB) sign describes cruciform-shaped T2-weighted hyperintensities of pontocerebellar fibers within the pons and is a typical, but not specific imaging hallmark of the cerebellar variant of multiple system atrophy (MSA-C). We report a case of a 51-year-old woman who was first diagnosed with MSA-C based on progressive cerebellar ataxia, the HCB sign and T2-weighted hyperintensities in middle cerebellar peduncles on MRI. However, further diagnostic work-up revealed positive anti-amphiphysin antibodies in blood and cerebrospinal fluid and subsequently breast cancer. This report of a paraneoplastic rhombencephalitis which initially mimicked MSA-C imaging features stresses the importance of considering immune-mediated rhombencephalitis as differential diagnosis in cases of progressive cerebellar ataxia and the HCB sign on T2-weighted MRI, especially in the absence of pontocerebellar atrophy.


Assuntos
Atrofia de Múltiplos Sistemas/diagnóstico , Neoplasias da Mama , Ataxia Cerebelar/diagnóstico , Ataxia Cerebelar/diagnóstico por imagem , Doenças Cerebelares/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Diagnóstico Diferencial , Feminino , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pedúnculo Cerebelar Médio/diagnóstico por imagem , Atrofia de Múltiplos Sistemas/diagnóstico por imagem , Degenerações Espinocerebelares/diagnóstico por imagem
14.
J Neurol Surg A Cent Eur Neurosurg ; 81(4): 372-376, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32221961

RESUMO

Endometriosis is a disorder in women which is characterized by extrauterine manifestations. We describe a case of cerebellar endometriosis in a 39-year-old woman who underwent posterior fossa decompression multiple times without establishing a correct diagnosis. Her neurologic status progressively worsened due to chronic hydrocephalus and brainstem compression by cysts. Late in the clinical course, histology from the cyst wall was taken that revealed endometriosis with clear cells and positive immunohistology for progesterone and estrogen receptors. Treatment with gestagens was started but did not improve the patient's status. In patients with chronic recurring intracranial cysts and hydrocephalus, cerebral endometriosis should be considered.


Assuntos
Doenças Cerebelares/cirurgia , Cerebelo/cirurgia , Endometriose/cirurgia , Adulto , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/patologia , Cerebelo/diagnóstico por imagem , Cerebelo/patologia , Descompressão Cirúrgica , Endometriose/diagnóstico por imagem , Endometriose/patologia , Evolução Fatal , Feminino , Humanos , Hidrocefalia/diagnóstico por imagem , Hidrocefalia/patologia , Hidrocefalia/cirurgia
15.
Rev. Assoc. Med. Bras. (1992) ; 66(3): 375-379, Mar. 2020. graf
Artigo em Inglês | LILACS, Sec. Est. Saúde SP | ID: biblio-1136212

RESUMO

SUMMARY BACKGROUND Symptomatic Chiari Type I Malformation (CM) is treated with posterior fossa decompression with or without duroplasty. We have noticed some cases with concomitant severe cerebellar ataxia due to cerebellar atrophy. The aim of this study is to review the literature of CM associated with severe cerebellar atrophy and discuss its potential physiopathology. METHODS A systematic literature review in the Pubmed Database was performed using the following key-terms: "cerebellar atrophy Chiari", and "cerebellar degeneration Chiari". Articles reporting the presence of cerebellar degeneration/atrophy associated with CM were included. RESULTS We found only six studies directly discussing the association of cerebellar atrophy with CM, with a total of seven cases. We added one case of our own practice for additional discussion. Only speculative causes were described to justify cerebellar atrophy. The potential causes of cerebellar atrophy were diffuse cerebellar ischemia from chronic compression of small vessels (the most mentioned speculative cause), chronic raised intracranial pressure due to CSF block, chronic venous hypertension, and association with platybasia with ventral compression of the brainstem resulting in injury of the inferior olivary nuclei leading to mutual trophic effects in the cerebellum. Additionally, it is not impossible to rule out a degenerative cause for cerebellar atrophy without a causative reason. CONCLUSIONS Severe cerebellar atrophy is found in some patients with CM. Although chronic ischemia due to compression is the most presumed cause, other etiologies were proposed. The real reasons for cerebellar degeneration are not known. Further studies are necessary.


RESUMO OBJETIVO A Malformação de Chiari (MC) tipo I sintomática é tratada através da descompressão da fossa posterior com ou sem duroplastia. Observamos alguns casos com ataxia cerebelar grave concomitante devido à atrofia cerebelar. O objetivo deste estudo é revisar a literatura sobre MC associada à atrofia cerebelar grave e discutir sua possível fisiopatologia. METODOLOGIA Conduzimos uma revisão sistemática da literatura no banco de dados Pubmed utilizando as seguintes palavras-chave: "cerebellar atrophy Chiari", e "cerebellar degeneration Chiari". Artigos sobre a presença de degeneração/atrofia cerebelar associada à MC foram incluídos. RESULTADOS Encontramos apenas seis estudos que discutiam diretamente a associação entre atrofia cerebelar e MC, com um total de sete casos. Nós adicionamos um caso da nossa própria prática para ampliar a discussão. Apenas causas especulativas foram descritas para justificar a atrofia cerebelar, entre elas: isquemia cerebelar difusa devido à compressão crônica de pequenos vasos (a causa especulativa mais citada), pressão intracraniana elevada crônica devido ao bloqueio de LCR, hipertensão venosa crônica e associação com platibasia com compressão ventral do tronco cerebral, resultando em lesão do núcleo olivar inferior e levando a efeitos tróficos mútuos no cerebelo. Além disso, não é possível descartar uma causa degenerativa para atrofia cerebelar sem motivos claros. CONCLUSÃO A atrofia cerebelar grave é encontrada em alguns pacientes com MC. A isquemia crônica causada por compressão é a causa mais apontada como suspeita, porém outras etiologias foram propostas. As reais causas da degeneração cerebelar não são conhecidas. Mais estudos são necessários.


Assuntos
Humanos , Masculino , Feminino , Malformação de Arnold-Chiari/fisiopatologia , Doenças Cerebelares/fisiopatologia , Malformação de Arnold-Chiari/diagnóstico por imagem , Atrofia , Imagem por Ressonância Magnética , Doenças Cerebelares/diagnóstico por imagem , Cerebelo/anormalidades , Cerebelo/cirurgia , Cerebelo/fisiopatologia , Descompressão Cirúrgica
16.
Zhonghua Jie He He Hu Xi Za Zhi ; 43(2): 126-131, 2020 Feb 12.
Artigo em Chinês | MEDLINE | ID: mdl-32062882

RESUMO

Objective: To summarize the clinical course, neuroimaging and cerebrospinal fluid (CSF) analyses of cerebellar dysfunction in Legionnaires' disease. Methods: A case of Legionnaires' disease with pronounced cerebellar involvement was reported. The related literatures published up to February 2019 were reviewed with "Legionella, legionellosis, legionnaires' disease, cerebellum, cerebellar" as the keywords in CNKI, Wanfang and PubMed databases. Results: A 69-year-old man complained of anorexia and diarrhea for several days. He was subsequently admitted to the hospital after he had fever, ataxia, dysarthria and involuntary tremor. Chest CT revealed right lower lobe pneumonia. Routine urinalysis showed hematuria and proteinuria. Serum alanine transaminase was 52 U/L, creatinine 137 µmol/L, sodium 128 mmol/L, and creatine kinase 6 893 U/L. Cranial CT was normal. Analysis of CSF showed mildly elevated total protein. Legionella colonies isolated from bronchoalveolar lavage fluid was positive by PCR. After initial treatment with moxifloxacin and azithromycin for 7 days, the fever and neurological symptoms persisted. Corticosteroid therapy was administered for 3 days, the fever resolved, whereas the neurological symptoms improved gradually and slowly by 4 weeks of antibiotic therapy. Finally, successive serological test confirmed Legionella pneumophila serogroups 6 and 7 by indirect immunofluorescence. Twenty-one literatures with 23 cases were reviewed, and plus our case, there were a total of 24 cases for analysis. There were 16 males and 8 females, aged from 22 to 71 years. Ataxia and dysarthria were the cerebellar symptoms most frequently reported, occurring in 22 and 18 cases, respectively. All patients had various central and peripheral neuropathies during their illness. Neuroimaging and analysis of CSF was reported in 21 cases. There were no abnormalities in 18 cases of cranial imaging, 1 case with slight hydrocephalus on cranial CT, and 3 cases with hyperintensity in the splenium of corpus callosum on cranial MRI. Eighteen cases of CSF analyses were normal, whereas 1 case with elevated lymphocytes and 3 cases with elevated proteins. Nine cases were eventually identified as Legionella pneumophila serotype 1 by urinary antigen detection, 1 case as Legionella pneumophila serogroups 6 and 7, while the remaining 14 were unknown serotype. Long-term neurologic follow-up showed that 3 cases recovered completely in the first week, while 19 cases improved slowly in the following 3 weeks, and 13 cases had persistent deficits of gait or speech after 3 months. Conclusions: Legionellosis with cerebellar insufficiency is rare. It may be misdiagnosed in the onset of illness. After treatment, there is a trend of slow recovery and neurological symptoms may persist in long-term follow-up.


Assuntos
Doenças Cerebelares/etiologia , Cerebelo/diagnóstico por imagem , Líquido Cefalorraquidiano/química , Doença dos Legionários/complicações , Doenças do Sistema Nervoso Periférico/etiologia , Adulto , Idoso , Doenças Cerebelares/líquido cefalorraquidiano , Doenças Cerebelares/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Neuroimagem , Pneumonia , Adulto Jovem
17.
World Neurosurg ; 136: 205-207, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31958586

RESUMO

BACKGROUND: Although arteriovenous malformation (AVM) has been considered to be a congenital vascular malformation, morphologic differences associated with age have been indicated in the literature. CASE DESCRIPTION: We report a case of infant fistula-type AVM that developed into a nidus-type AVM 15 years later. This is the first report to document morphologic changes of AVM over time in 1 case. CONCLUSIONS: The present case suggests the possibly that AVM morphology may change with age and is an important when considering the history of AVM.


Assuntos
Fístula Arteriovenosa/complicações , Doenças Cerebelares/complicações , Hemorragias Intracranianas/complicações , Adolescente , Fístula Arteriovenosa/diagnóstico por imagem , Fístula Arteriovenosa/terapia , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/terapia , Progressão da Doença , Humanos , Lactente , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/terapia , Masculino
18.
J Stroke Cerebrovasc Dis ; 29(3): 104600, 2020 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-31917092

RESUMO

Dyke-Davidoff-Masson syndrome (DDMS) was first described in 1933 as a clinical condition characterized by hemiatrophy, hyperpneumatization of paranasal sinuses, contralateral hemiparesis, facial asymmetry, seizures, and mental retardation.1 DDMS can be of 2 types: congenital and acquired. The congenital type can be caused by various conditions experienced during fetal or early childhood development, including ischemia, infarction, trauma, infections, and hemorrhage. The acquired type is mostly associated with hemorrhage, trauma, and infections experienced after 1 month of age. DDMS can manifest alone or can be accompanied by crossed cerebellar atrophy (CCA) which is a newly discovered radiological marker characterized by prominent cortical sulci and loss of cerebellar parenchyma. The congenital type of DDMS is known to be accompanied by ipsilateral cerebellar atrophy and the acquired type is known to be accompanied by contralateral cerebellar atrophy.2,3 Supratentorial events may lead to destruction in the cortico-ponto-cerebellar pathways, mostly in the contralateral side of the body (80%) due to decussation.4 In this report, we present 2 cases of DDMS accompanied by CCA to emphasize the possibility that the DDMS cases with severe intrauterine hemorrhage can be accompanied by contralateral CCA and migratory abnormalities rather than ipsilateral CCA and clinical survey.


Assuntos
Doenças Cerebelares/complicações , Epilepsia Generalizada/complicações , Hemorragias Intracranianas/etiologia , Convulsões Febris/complicações , Adolescente , Anticonvulsivantes/uso terapêutico , Atrofia , Doenças Cerebelares/congênito , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/tratamento farmacológico , Epilepsia Generalizada/congênito , Epilepsia Generalizada/diagnóstico por imagem , Epilepsia Generalizada/tratamento farmacológico , Feminino , Humanos , Lactente , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/tratamento farmacológico , Imagem por Ressonância Magnética , Fatores de Risco , Convulsões Febris/congênito , Convulsões Febris/diagnóstico por imagem , Convulsões Febris/tratamento farmacológico , Esteroides/uso terapêutico , Síndrome , Resultado do Tratamento
19.
World Neurosurg ; 134: 25-32, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31629928

RESUMO

BACKGROUND: Arteriovenous malformations (AVMs) can occur in all regions of the brain and spinal cord, with clinical consequences and risks varying by location. Delayed AVM rupture despite digital subtraction angiography-confirmed obliteration post-radiation is exceedingly rare. CASE DESCRIPTION: To our knowledge, we present the first documented case of delayed hemorrhage associated with a cerebellar AVM 5 years after linear accelerator-based radiation in a man aged 31 years despite apparent angiographic obliteration. CONCLUSIONS: Intracranial hemorrhage after radiosurgery in digital subtraction angiography-confirmed obliterated AVMs is rare, with limited understanding of risk factors, appropriate preventative management, and mechanisms of occurrence. This case serves to demonstrate the need for greater awareness of this rare complication, as well as the need for appropriate surveillance and management strategies.


Assuntos
Doenças Cerebelares/radioterapia , Malformações Arteriovenosas Intracranianas/radioterapia , Hemorragias Intracranianas/prevenção & controle , Ruptura Espontânea/prevenção & controle , Adulto , Angiografia Digital , Doenças Cerebelares/diagnóstico por imagem , Doenças Cerebelares/patologia , Angiografia Cerebral , Humanos , Malformações Arteriovenosas Intracranianas/diagnóstico por imagem , Malformações Arteriovenosas Intracranianas/patologia , Hemorragias Intracranianas/diagnóstico por imagem , Hemorragias Intracranianas/patologia , Hemorragias Intracranianas/cirurgia , Masculino , Radiocirurgia , Ruptura Espontânea/diagnóstico por imagem , Ruptura Espontânea/patologia , Ruptura Espontânea/cirurgia , Falha de Tratamento
20.
Eur J Med Genet ; 63(2): 103649, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30986545

RESUMO

EXOSC3-related autosomal recessive neurodevelopmental disorders are rare entities with variable clinical course and prognosis. They are characterized by hypoplasia of cerebellar structures and pons, degeneration of the anterior horn cells and motor as well as neurocognitive impairment. Phenotypic expression is variable with an overall poor outcome. Current research suggests clear genotype-phenotype correlations among EXOSC3-pathogenic-variants carriers. Homozygosity for the EXOSC3 variant c.395A > C, p.(Asp132Ala) is proposed to lead to a rather mild phenotype compared to compound-heterozygous EXOSC3-pathogenic-variants carriers with lethal neurological disease in very early childhood. In this study, we report two siblings (21- and 8-year-old) affected by PCH1B with an unusual presentation. We identified compound heterozygosity for the well-established EXOSC3 variant c.395A > C, p.(Asp132Ala) and the novel variant c.572G > A, p.(Gly191Asp), expanding the genetic spectrum. Phenotypic presentation of the siblings was strikingly different from that of literature reports with a surprisingly mild disease manifestation and an unexpected intrafamilial variability. This study demonstrates the extensive clinical heterogeneity and the broad phenotypic spectrum associated with EXOSC3-associated disorders. Enlargement of sample sizes and reports of novel cases will be essential for the delineation of associated phenotypes.


Assuntos
Doenças Cerebelares/diagnóstico , Doenças Cerebelares/genética , Complexo Multienzimático de Ribonucleases do Exossomo/genética , Proteínas de Ligação a RNA/genética , Doenças Cerebelares/congênito , Doenças Cerebelares/diagnóstico por imagem , Cerebelo/diagnóstico por imagem , Criança , Feminino , Estudos de Associação Genética , Heterozigoto , Homozigoto , Humanos , Masculino , Mutação , Fenótipo , Irmãos , Adulto Jovem
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