Anti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature

Sena, Giuseppe; Gallo, Gaetano; Vescio, G; Gambardella, Denise; Franciscis, Stefano de; Renne, Mariuccia

doi:10.1186/s13256-020-02410-z

Cited by 9 publications

(5 citation statements)

References 26 publications

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“…Our patient presented with a static-kinetic cerebellar syndrome, multiple cranial nerve palsy, and cervical dystonia. In this way, our results confirm the data found in the literature, the opsoclonusmyoclonus syndrome is not pathognomonic of anti-Ri antineuronal antibody [4].…”

Section: Discussionsupporting

confidence: 92%

Anti-Ri-Associated Paraneoplastic Neurological Syndrome Revealing Breast Cancer: A Case Report

Tazi¹,

Salimi²,

Fadili³

et al. 2022

Cureus

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Neurological paraneoplastic syndromes are a rare entity that affects patients with cancer. Anti-Ri antibodies affect the brain stem and produce a heterogeneous rapidly progressive subacute syndrome depending on the involvement of the different regions concerned. The most common clinical presentation is opsoclonusmyoclonus syndrome and paraneoplastic cerebellar degeneration. Here we report a case of a 60-year-old woman with a subacute static-kinetic cerebellar syndrome, cervical dystonia, and multiple cranial nerve palsies revealing a mammary adenocarcinoma. Anti-Ri antibodies were positive in her blood. Our observation underscored the importance of the identification of the tumor for early treatment management to avoid irreversible neurological manifestations.

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Section: Discussionsupporting

confidence: 92%

Anti-Ri-Associated Paraneoplastic Neurological Syndrome Revealing Breast Cancer: A Case Report

Tazi¹,

Salimi²,

Fadili³

et al. 2022

Cureus

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“…However, it has now been demonstrated that malignant tumours may produce antibodies targeted against neural cells (onconeural antibodies) [10,11], highlighting the immune-mediated mechanisms of these disorders. Such antibodies are detected in 70-80% of PNS cases [12]; therefore, their presence is not compulsory for the diagnosis of a paraneoplastic syndrome, while PNS may be diagnosed in the absence of a known primary cancer [13]. In more detail, PNS are subclassi ed in classical, when their association with malignant disease is well established, and non-classical [13].…”

Section: Discussionmentioning

confidence: 99%

Breast Cancer Associated Opsoclonus-Myoclonus Syndrome: A Case Report

Kostoglou

Vlastos

Bakalis

et al. 2021

Preprint

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BackgroundParaneoplastic neurological syndromes constitute rare neurological complications of malignant disease, manifesting in <1% of patients with cancer. Opsoclonus-myoclonus syndrome (OMS) presents with chaotic ocular saccades (opsoclonus), spontaneous muscular jerking (myoclonus) that may be accompanied by ataxia, strabismus, aphasia, or mutism. Its paraneoplastic variant in the adult is most commonly associated with small-cell lung cancer, followed by breast cancer. Importantly, neurological symptoms usually precede the diagnosis of breast cancer and tend to recure after its treatment.Case presentationA 43-year-old premenopausal Caucasian woman with a medical history of hypertension was admitted following an episode of focal seizure. On the day of admission, the initial focal seizure progressed to generalised tonic-clonic seizures and she was subsequently loaded with phenytoin, valproate, and levetiracetam. Initial work up included whole body CT scan, viral and autoimmune serology. The CT scan revealed an enhancing right axillary lymph node, which in combination with Anti-Ri antibody positivity raised the spectre of paraneoplastic opsoclonus-myoclonus syndrome. All other tested antibodies were found negative. MRI of the head revealed subtle nonspecific white matter signal change within the centrum semiovale without any mass lesions, while MRI of spine showed no cord lesions. A right mastectomy and axillary lymph node clearance was performed without any complications. Two months later she was admitted again due to near permanent vertigo, intermittent diplopia, facial weakness, and ataxia. She was clinically diagnosed with a recurrence of her anti-Ri syndrome. MDT recommended mammogram and ultrasound of left breast which was normal. Subsequently, four months after initial discharge, she suffered another neurological recurrence; due to concomitant abdominal pain, PET-CT was performed demonstrating a hypermetabolic right ovarian focus. Bilateral salpingo-oophorectomy was performed as per gynaecology MDT and final histology showed normal tubes and ovaries. She has remained on remission since then, with negative annual mammogram follow-up. ConclusionsIn conclusion, we report a case of OMS associated with breast cancer anti anti-Ri onconeural antibody. Its manifestations preceded the diagnosis of malignancy and it persisted after cancer treatment, underlining the importance for high clinical suspicion in cases of classical paraneoplastic neurological syndromes as well as the need for long-term clinical follow-up.Trial registration:Not applicable

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“…However, the autoimmune nature of these disorders has now been demonstrated: they are mediated by antibodies targeted against tumour-produced antigens that are normally expressed by native neural cells (onconeural antibodies) [ 10 , 11 ]. Such antibodies are detected in 70–80% of PNS cases [ 12 ]; therefore, their presence is not compulsory for the diagnosis of a paraneoplastic syndrome, while PNS may be diagnosed in the absence of a known primary cancer [ 13 ]. In more detail, PNS are subclassified in classical, when their association with malignant disease is well established, and non-classical [ 13 ].…”

Section: Discussionmentioning

confidence: 99%

Breast cancer-associated opsoclonus-myoclonus syndrome: a case report

et al. 2021

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Background Paraneoplastic neurological syndromes constitute rare neurological complications of malignant disease, manifesting in <1% of patients with cancer. Opsoclonus-myoclonus syndrome (OMS) presents with chaotic ocular saccades (opsoclonus), spontaneous muscular jerking (myoclonus) that may be accompanied by ataxia, strabismus, aphasia, or mutism. Its paraneoplastic variant in the adult is most commonly associated with small-cell lung cancer, followed by breast cancer. Importantly, neurological symptoms usually precede the diagnosis of breast cancer and tend to recure after its treatment. Case presentation A 43-year-old premenopausal Caucasian woman with a medical history of hypertension was admitted following an episode of focal seizure. This progressed to generalised tonic-clonic seizures and she was subsequently loaded with phenytoin, valproate, and levetiracetam. Initial workup included whole body CT scan, viral and autoimmune serology. The CT scan revealed an enhancing right axillary lymph node, which in combination with Anti-Ri antibody positivity raised the spectre of paraneoplastic OMS. MRI of the head revealed subtle nonspecific white matter signal change within the centrum semiovale without any mass lesions, while MRI of the spine was unremarkable. An uncomplicated right mastectomy and axillary lymph node clearance was performed: histopathology revealed a 9-mm, grade 2, oestrogen receptor-positive, progesterone receptor-negative (ER8, PR0), Her2-negative invasive ductal carcinoma, and 4/6 positive lymph nodes (T1b N2 M0). Two months later, she was readmitted with vertigo, diplopia, facial weakness, and ataxia, setting the diagnosis anti-Ri syndrome recurrence. MDT recommended mammogram and ultrasound of the left breast, which were normal. Subsequently, four months after initial discharge, she suffered another neurological recurrence; due to concomitant abdominal pain, PET-CT was performed demonstrating a hypermetabolic right ovarian focus. Bilateral salpingo-oophorectomy was performed as per gynaecology MDT and final histology showed normal tubes and ovaries. She has remained on remission since then, with a negative annual mammogram follow-up. Conclusions In conclusion, we report a case of OMS associated with breast cancer anti-Ri onconeural antibody. Its manifestations preceded the diagnosis of malignancy and it persisted after cancer treatment, underlining the importance for high clinical suspicion in cases of classical paraneoplastic neurological syndromes as well as the need for long-term clinical follow-up.

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Anti-Ri-associated paraneoplastic ophthalmoplegia-ataxia syndrome in a woman with breast cancer: a case report and review of the literature

Cited by 9 publications

References 26 publications

Anti-Ri-Associated Paraneoplastic Neurological Syndrome Revealing Breast Cancer: A Case Report

Anti-Ri-Associated Paraneoplastic Neurological Syndrome Revealing Breast Cancer: A Case Report

Breast Cancer Associated Opsoclonus-Myoclonus Syndrome: A Case Report

Breast cancer-associated opsoclonus-myoclonus syndrome: a case report

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