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1.
Front Neurol ; 15: 1347289, 2024.
Article in English | MEDLINE | ID: mdl-38651102

ABSTRACT

Introduction: Mutations of the phosphatase and tensin homolog (PTEN) gene have been associated with a spectrum of disorders called PTEN hamartoma tumor syndrome, which predisposes the individual to develop various types of tumors and vascular anomalies. Its phenotypic spectrum includes Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS), Proteus syndrome, autism spectrum disorders (ASD), some sporadic cancers, Lhermitte-Duclos disease (LDD), and various types of associated vascular anomalies. Clinical presentation: A previously healthy 27-year-old woman was experiencing visual scintillating scotomas and mild chronic headaches for the past 2 years. The initial computed tomographic (CT) and magnetic resonance imaging (MRI) scans did not reveal any abnormalities, but the possibility of pseudotumor cerebri was considered. Furthermore, a cerebral angiogram showed a posterior fossa dural arteriovenous fistula (dAVF), which was initially treated through embolization. However, in spite of proper treatment, this patient experienced multiple recurrent dAVFs in different locations, requiring multiple embolizations and surgeries. Despite exhibiting altered cerebral perfusion and hemodynamics, the patient did not display any significant symptoms until she experienced a sudden stroke resulting from deep venous thrombosis, which was not associated with any medical procedures or medication use. A comprehensive analysis was performed due to the aggressive nature of the dAVFs. Surprisingly, exome sequencing of a blood sample revealed a PTEN gene variant in chromosome 10, indicative of Cowden syndrome. However, no tumors or other vascular lesions were detected in other systems that would constitute Cowden syndrome. Conclusion: The rapid formation of multiple and complex dAVFs, coupled with not meeting the criteria for any other PTEN-related syndrome, unequivocally leads to the presentation of a novel phenotype of the PTEN germline variant.

2.
BJR Case Rep ; 9(5): 20230063, 2023 Oct.
Article in English | MEDLINE | ID: mdl-37780974

ABSTRACT

Systemic lupus erythematosus (SLE) is an autoimmune systemic disease and these patients can have neurological involvement; however, aseptic leptomeningitis is considered to be a very rare feature, observed in 1.4-2.0% of patients. Here, we described a case of a young male with SLE treated with azathioprine with progressive headache, which revealed diffuse posterior fossa leptomeningitis, relatively sparing the supratentorial compartment, that represent an adverse drug reaction - a rare manifestation of central nervous system involvement in SLE. Treatment with azathioprine was interrupted and methylprednisolone was initiated and the patient has significant improvement of his neurological state in 5 days later, demonstrating total involution of the leptomeningeal enhancement on MRI follow-up.

3.
Article in English | MEDLINE | ID: mdl-37185110

ABSTRACT

OBJECTIVE: We report a case of biopsy-proven giant cell arteritis after an initial presentation of area postrema syndrome. METHODS: A 65-year-old man was evaluated using MRI, temporal artery biopsy, and ultrasound. RESULTS: The patient presented with refractory nausea, vomiting, and hiccups that caused weight loss without any other neurologic or clinical symptoms. His MRI scan 15 days later revealed a hyperintense sign on the area postrema with no abnormal diffusion or contrast enhancement, compatible with isolated area postrema syndrome. An extensive workup for inflammation and other etiologies including neuromyelitis optica spectrum disorder (NMOSD), myelin oligodendrocyte glycoprotein antibody disorder, and multiple sclerosis (MS) showed negative results. The patient responded to treatment with methylprednisolone. Two months after the initial clinical manifestation, the patient developed fatigue, headache, and scalp tenderness. He was diagnosed with giant cell arteritis after ultrasonography and biopsy were performed. He responded well to oral glucocorticoids and had only 1 relapse during tapering. He has not had arteritic ischemic optic neuropathy or any new episodes of area postrema syndrome. DISCUSSION: This case demonstrates the importance of expanding the differential diagnosis in patients with area postrema syndrome and no other signs of NMOSD.


Subject(s)
Giant Cell Arteritis , Neuromyelitis Optica , Male , Humans , Giant Cell Arteritis/complications , Giant Cell Arteritis/diagnosis , Giant Cell Arteritis/drug therapy , Area Postrema/pathology , Neuromyelitis Optica/pathology , Vomiting/complications , Vomiting/pathology , Nausea/complications , Nausea/pathology
4.
Spinal Cord Ser Cases ; 8(1): 64, 2022 07 01.
Article in English | MEDLINE | ID: mdl-35778377

ABSTRACT

INTRODUCTION: The sinonasal carcinoma are rare tumors of the head and neck. The undifferentiated sinonasal carcinoma subtypes are constantly being explored and new mutations, with different prognosis markers and biological behaviors are being described. The SMARCB1 negative sinonasal carcinoma subtypes have been recently described with few reports of leptomeningeal and spinal cord invasion. CASE PRESENTATION: This study presents the case of a 59-year-old woman, with no previous disease, presenting initially with epistaxis that evolved to cranial nerve deficits and a left eye complete oftalmoplegia. After diagnostic investigation, she had a diagnosis of a left ethmoid sinus sinonasal carcinoma. Following resection of the tumor, she evolved with a right foot drop that eventually has been linked to diffuse spinal cord impairment. The histopathological diagnosis confirmed a SMARCB1 negative sinonasal carcinoma. Due to the diffuse metastasis, she underwent palliative care and died eight months after the surgery. DISCUSSION: Spinal cord metastasis may manifest with different clinical signs. Our case shows a rare manifestation of SMARCB1-deficient sinonasal carcinoma, a new subtype of sinonasal carcinoma, summarizing the importance of a high grade of suspicion of spinal cord invasion on these patients. SMARCB1 sinonasal carcinomas are rare new tumors of the head and neck, whose biological behaviors are yet to be explored. To the best of our knowledge, this is one of the few case reports describing simultaneous spread of this tumor to the central nervous system and spinal cord.


Subject(s)
Maxillary Sinus Neoplasms , Peroneal Neuropathies , Spinal Cord Neoplasms , Biomarkers, Tumor/genetics , Female , Humans , Maxillary Sinus Neoplasms/genetics , Maxillary Sinus Neoplasms/pathology , Middle Aged , SMARCB1 Protein/genetics
5.
Radiol Case Rep ; 16(7): 1766-1769, 2021 Jul.
Article in English | MEDLINE | ID: mdl-34007399

ABSTRACT

Toxoplasmosis is an infection caused by Toxoplasma gondii, an intracellular protozoan that is often associated with immunocompromised patients and is rare in immunocompetent. A 60-year-old man was admitted with a history of 2 days of headache and right-sided weakness. There was no history of fever, surgeries, or any other comorbid illness. Cerebrospinal fluid showed just mild pleocytosis with 15 cells/mm3, predominantly lymphomononuclear. MRI showed Peripheral enhancing lesion with central diffusion restriction and perivascular enhancing lesion with restricted diffusion with vasogenic edema and leptomeningeal enhancement in the white matter. Viral serologies, tumor markers, protein electrophoresis were normal. The patient was submitted to brain biopsy, revealing necrotic brain parenchyma with predominantly acute inflammation, with diffuse encephalitis pattern, and cysts with bradyzoites (cystozoites) of Toxoplasma gondii in the brain parenchyma. The central nervous system infection by Toxoplasma gondii can present as meningoencephalitis during primary infection in an immunocompetent, although it is rare. Central nervous system lymphoma is the main differential diagnosis of neurotoxoplasmosis by imaging, especially in our case.

6.
Rev. bras. ter. intensiva ; 32(4): 603-605, out.-dez. 2020. graf
Article in English, Portuguese | LILACS | ID: biblio-1156248

ABSTRACT

RESUMO As alterações neurológicas associadas à COVID-19 têm sido frequentemente descritas, principalmente nos casos de maior severidade, e estão relacionadas a causas multifatoriais, como a disfunção endotelial, a liberação de mediadores inflamatórios (cytokine storm), a disfunção endotelial e a hipoxemia. Relatamos o caso de uma paciente do sexo feminino, 88 anos, com quadro de hemorragia cerebral associada à angiopatia amiloide, no contexto de infecção por SARS-CoV-2.


ABSTRACT The neurological changes associated with COVID-19 have been frequently described, especially in cases of greater severity, and are related to multifactorial causes, such as endothelial dysfunction, inflammatory mediator release (cytokine storm), endothelial dysfunction and hypoxemia. We report the case of a female patient, 88 years old, with cerebral hemorrhage associated with amyloid angiopathy in the context of SARS-CoV-2 infection.


Subject(s)
Humans , Female , Aged, 80 and over , Cerebral Hemorrhage/diagnostic imaging , Cerebral Amyloid Angiopathy/diagnostic imaging , COVID-19/complications , Cerebral Hemorrhage/virology , Cerebral Amyloid Angiopathy/virology , COVID-19/diagnosis
7.
J Clin Neurosci ; 75: 228-231, 2020 May.
Article in English | MEDLINE | ID: mdl-32201027

ABSTRACT

Charcot Marie Tooth (CMT) due to myelin protein zero (MPZ) mutations, may cause a wide variation of phenotypes, depending on the localization of the mutation within the gene. Among the most common phenotypes are: an infantile onset disease with extremely slow nerve conduction velocities (CMT1B) and an adult onset phenotype with nerve velocities in the axonal range (CMT2I). We reported a patient with CMT1B (MPZ p.Ser63del mutation) which developed an overlapping immune mediated polyradiculoneuropathy with recurrent episodes of quadriparesis and cranial nerve involvement. We observed reversible conduction block on serial neurophysiologic studies, non-uniform demyelination and good clinical response to prednisone and cyclophosphamide, as evidenced by objective functional recovery. Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP)-like characteristics have not yet been described associated with a MPZ p.Ser63del mutation. This description adds evidence indicating that a defective structural myelin protein may predispose peripheral nerves to immune attacks.


Subject(s)
Charcot-Marie-Tooth Disease/genetics , Charcot-Marie-Tooth Disease/immunology , Myelin P0 Protein/genetics , Polyneuropathies/genetics , Polyneuropathies/immunology , Adult , Charcot-Marie-Tooth Disease/diagnosis , Female , Humans , Mutation/genetics , Mutation/immunology , Polyneuropathies/diagnosis
8.
Rev Bras Ter Intensiva ; 32(4): 603-605, 2020.
Article in Portuguese, English | MEDLINE | ID: mdl-33470362

ABSTRACT

The neurological changes associated with COVID-19 have been frequently described, especially in cases of greater severity, and are related to multifactorial causes, such as endothelial dysfunction, inflammatory mediator release (cytokine storm), endothelial dysfunction and hypoxemia. We report the case of a female patient, 88 years old, with cerebral hemorrhage associated with amyloid angiopathy in the context of SARS-CoV-2 infection.


As alterações neurológicas associadas à COVID-19 têm sido frequentemente descritas, principalmente nos casos de maior severidade, e estão relacionadas a causas multifatoriais, como a disfunção endotelial, a liberação de mediadores inflamatórios (cytokine storm), a disfunção endotelial e a hipoxemia. Relatamos o caso de uma paciente do sexo feminino, 88 anos, com quadro de hemorragia cerebral associada à angiopatia amiloide, no contexto de infecção por SARS-CoV-2.


Subject(s)
COVID-19/complications , Cerebral Amyloid Angiopathy/diagnostic imaging , Cerebral Hemorrhage/diagnostic imaging , Aged, 80 and over , COVID-19/diagnosis , Cerebral Amyloid Angiopathy/virology , Cerebral Hemorrhage/virology , Female , Humans
9.
Neurol Sci ; 40(8): 1725-1727, 2019 Aug.
Article in English | MEDLINE | ID: mdl-30997592

ABSTRACT

BACKGROUND: Chronic inflammatory demyelinating polyneuropathy (CIDP) is a neuropathy which affects mainly large myelinated axons and has a typically mild autonomic dysfunction mainly from postganglionic nerve fiber involvement. CASE REPORT: We report here an acute onset CIDP initially diagnosed as Guillain-Barré syndrome (GBS), unresponsive to treatment with intravenous immunoglobulin (IVIg), which later responded to plasmapheresis and corticoids. The patient had a markedly distal demyelination, prominent cranial nerve involvement and, interestingly, bilateral fixed dilated pupils. Despite complete clinical recovery, this neurological sign remained. CONCLUSIONS: Tonic pupils have previously been described in different neurologic conditions, including GBS, but not yet in acute onset CIDP or in variants with predominantly distal demyelination. It differs from the classical Adie's pupil because it lacks the light-near dissociation. This case report expands the range of possible autonomic signs in acute onset CIDP, which could help physicians establish optimal treatment strategies earlier on.


Subject(s)
Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/complications , Tonic Pupil/etiology , Diagnostic Errors , Female , Guillain-Barre Syndrome/diagnosis , Humans , Polyradiculoneuropathy, Chronic Inflammatory Demyelinating/diagnosis , Young Adult
10.
World Neurosurg ; 110: e907-e916, 2018 Feb.
Article in English | MEDLINE | ID: mdl-29191528

ABSTRACT

OBJECTIVE: The aim of this study was to describe 27 patients with 32 web vessels (WVs) from our practice and provide a review of the literature regarding imaging diagnostics, clinical presentation, and treatment of WVs. METHODS: A MEDLINE search was performed using combinations of the following terms: "stroke in young adults," "web," "recurrent stroke," "diaphragm-like," "atypical fibromuscular hyperplasia," "atypical fibromuscular dysplasia," "septal fibromuscular dysplasia," "septa," "diaphragms," "pseudovalvular folds," and "carotid diaphragm." Our series was added in this review. RESULTS: According to location, there were 88 carotid WVs (91.66%), 7 vertebral WVs (7.3%), and 1 subclavian WV (1.04%). According to clinical presentation, the reported WVs caused stroke in 81 cases (84.38%). Treatment was supportive care in 46 cases (47.91%), surgery in 33 cases (35.41%), and an endovascular procedure through angioplasty and stenting in 17 cases (17.7%). Variables such as age (P = 0.7565), sex (P = 0.6912), and location (P = 0.7993) were not shown to be risk factors for stroke in these patients. CONCLUSIONS: Although few cases have been reported in the literature, the stroke rate in patients with WVs is high. Endovascular treatment is presented as an effective form of treatment with no associated morbidities or recurrences of ischemic events.


Subject(s)
Endovascular Procedures , Stroke/etiology , Vascular Diseases/complications , Vascular Diseases/surgery , Adult , Aged , Aged, 80 and over , Female , Follow-Up Studies , Humans , Male , Middle Aged , Retrospective Studies , Stroke/diagnostic imaging , Stroke/surgery , Vascular Diseases/diagnostic imaging , Young Adult
11.
An. paul. med. cir ; 128(2): 40-46, abr.-jun. 2001. ilus, tab
Article in Portuguese | LILACS | ID: lil-319587

ABSTRACT

A neuropatia vasculítica é a mais comum das neuropatias parenquimatosas. As formas restritas ao sistema nervoso periférico (SNP) e as secundárias a doenças sistêmicas têm a mesma expressäo clínica e imunopatológica. Assim, podem ser consideradas como polos de expressäo da mesma doença. O diagnóstico deve ser considerado diante de uma neuropatia assimétrica dolorosa e confirmado por biópsia do nervo periférico. A introduçäo precoce de um tratamento imuno-supressor potente e prolongado reduz significativamente os riscos de sequelas incapacitantes. Säo relatados os aspectos clínicos, anatomopatológicos e as opções terapêuticas adotadas em 15 pacientes com neuropatia vasculítica, 2 com forma primária e 13 com afecçäo secundária do SNP. A resposta ao tratamento foi favorável, em grau variável e relacionado ao tempo de evoluçäo e às condições iniciais do paciente


Subject(s)
Humans , Male , Female , Adult , Middle Aged , Peripheral Nervous System Diseases/diagnosis , Immunosuppressive Agents , Peripheral Nervous System Diseases/therapy
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