Moyamoya Disease Associated with Graves’ Disease and Down Syndrome: A Case Report and Literature Review

Nakamura, Hikaru; Sato, Kei; Yoshimura, Shota; Hayashi, Yukishige; Izumo, Tsuyoshi; Tokunaga, Yoshiharu

doi:10.1016/j.jstrokecerebrovasdis.2020.105414

Cited by 13 publications

(12 citation statements)

References 53 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Autoantibodies and thyroid hormone secretion may be increased in GD patients, accounting for about 80% of the total cases of hyperthyroidism clinically [14,15]. At present, it is generally not difficult to diagnose severe GD patients, but in the early stage of onset, some patients with mild illness, old age, or young age are often easily ignored because of their vague symptoms [16]. Autoimmune imbalances leading to inflammatory responses already exist in patients with early GD.…”

Section: Discussionmentioning

confidence: 99%

Serum Levels of CXCL-13, RBP-4, and IL-6, and Correlation Analysis of Patients with Graves’ Disease

Sun

Huang

et al. 2022

Emergency Medicine International

View full text Add to dashboard Cite

Objective. To investigate the serum levels of CXC chemokine 13 (CXCL-13), retinol binding protein-4 (RBP-4), and interleukin 6 (IL-6) in patients with Graves’ disease (GD). The correlation between CXCL-13, RBP-4, and IL-6 levels and the basal metabolic rate (BMR) was analyzed. Methods. 118 GD patients diagnosed in our hospital were selected as the observation group from March 2017 to December 2018. According to the measured BMR value, 118 GD patients were divided into the mild group (n = 39), the moderate group (n = 47), and the severe group (n = 32), three subgroups. 60 healthy subjects were selected as the control group. The serum levels of CXCL-13, RBP-4, IL-6, TSH, FT3, and FT4 in every group were measured. Pearson correlation analysis was used to observe the correlation of serum CXCL-13, RBP-4, and IL-6 levels with TSH, FT3, FT4, and BMR. Results. The levels of serum CXCL-13, RBP-4, and IL-6 in the observation group were higher than those of the control group, and the differences were statistically significant ( P < 0.05 ). The levels of serum CXCL-13, RBP-4, and IL-6 in the moderate and severe groups were higher than those in the mild group, and the differences were statistically significant ( P < 0.05 ). The levels of serum CXCL-13, RBP-4, and IL-6 in the severe group were higher than those in the moderate group, and the differences were statistically significant ( P < 0.05 ). Pearson correlation analysis showed that the serum levels of CXCL-13, RBP-4, and IL-6 in GD patients were negatively correlated with TSH levels and positively correlated with FT3 and FT4 levels. Serum CXCL-13, RBP-4, and IL-6 levels in GD patients were positively correlated with BMR (r = 0.915, r = 0.942, r = 0.926, P < 0.001 ). Conclusion. Serum CXCL-13, RBP-4, and IL-6 levels are elevated in patients with GD, and with the aggravation of the disease, the serum CXCL-13, RBP-4, and IL-6 levels also increase, showing a positive correlation, which can be used as indicators to reflect the degree of GD.

show abstract

Section: Discussionmentioning

confidence: 99%

Serum Levels of CXCL-13, RBP-4, and IL-6, and Correlation Analysis of Patients with Graves’ Disease

Sun

Huang

et al. 2022

Emergency Medicine International

View full text Add to dashboard Cite

show abstract

“…A small case series of 16 patients found that 21% fulfilled criteria for APS [ 85 ]. Interestingly, moyamoya disease has also been reported in association with other autoimmune conditions, such as SLE [ 86 , 87 ] and autoimmune thyroid disease [ 88 ].…”

Section: Cerebrovascular Diseasementioning

confidence: 99%

Neuropsychiatric Manifestations of Antiphospholipid Syndrome—A Narrative Review

Man

Sanna

2022

Brain Sciences

View full text Add to dashboard Cite

Antiphospholipid syndrome (APS) is a common autoimmune pro-thrombotic condition characterised by thrombosis and pregnancy morbidity. There are a broad range of neuropsychiatric manifestations associated with APS, from focal symptoms to more global dysfunction. Patients commonly present with transient ischaemic attacks and ischaemic strokes, with identifiable lesions on brain imaging. However, the underlying pathogenesis remains uncertain in other manifestations, such as cognitive dysfunction, seizures, headache and chorea. The aim is to provide a comprehensive review of the various neuropsychiatric manifestations associated with APS. A detailed literature search was applied to PubMed, including citations from 1983 to December 2021.

show abstract

“…In a nutshell, MMS is a secondary lesion due to other systemic diseases (Scott and Smith, 2009;Li et al, 2019). The underlying diseases are extensive that covers various aspects and multiple systems, such as hereditary diseases (neurofibromatosis type I and Down syndrome), infectious diseases (tuberculous vasculitis and Epstein-Barr virus infection), inflammatory diseases (systemic lupus erythematosus and Sjogren's syndrome), hematological diseases (sickle cell anemia and spherocytosis), metabolic diseases (abnormal thyroid function or pituitary hormone levels and pyruvate kinase deficiency), exogenous injuries (head trauma and radiation injury) as well as oral contraceptives or drug taking (Scott and Smith, 2009;Vargiami et al, 2014;Li et al, 2019;Yamani et al, 2020;Nakamura et al, 2021).…”

Section: Discussionmentioning

confidence: 99%

“…It is commonly seen in sickle cell anemia, neurofibromatosis type I, Down syndrome, and diffuse toxic goiter etc. (Scott and Smith, 2009;Vargiami et al, 2014;Li et al, 2019;Yamani et al, 2020;Nakamura et al, 2021). However, MMS associated with SMA has not been reported.…”

Section: Introductionmentioning

confidence: 99%

Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review

Wang

et al. 2022

Front. Cell. Neurosci.

View full text Add to dashboard Cite

Spinal muscular atrophy (SMA) is an inherited disorder characterized by degeneration of motor neurons and symmetrical muscle weakness and atrophy. Moyamoya syndrome (MMS) or moyamoya disease (MMD) is radiologically defined by chronic cerebrovascular occlusion with abnormal vascular network formation in the skull base. We report herein a 21-year-old female patient with limb weakness and muscular atrophy for 17 years. Electromyography revealed extensive motor neuron damage. Cranial MRA showed occlusion of bilateral anterior and middle cerebral arteries, with increased peripheral blood vessels and collateral circulation. She was diagnosed as SMA type IIIb combined with MMS following genetic testing, in which homozygous deletion of exons 7 and 8 of survival motor neuron (SMN)1 gene and 3 copies of exons 7 and 8 of SMN2 gene were detected. After treatment, the patient's symptoms improved. Our study found that the rare SMA and MMS co-exist. We speculated that the moyamoya phenomenon may be related to the abnormal regulation of intracranial vascular endothelial cells and smooth muscle cells in proliferation and differentiation caused by functional defects of SMN protein. The relationship between the two diseases needs to be further elucidated in future clinical work.

show abstract

Moyamoya Disease Associated with Graves’ Disease and Down Syndrome: A Case Report and Literature Review

Cited by 13 publications

References 53 publications

Serum Levels of CXCL-13, RBP-4, and IL-6, and Correlation Analysis of Patients with Graves’ Disease

Serum Levels of CXCL-13, RBP-4, and IL-6, and Correlation Analysis of Patients with Graves’ Disease

Neuropsychiatric Manifestations of Antiphospholipid Syndrome—A Narrative Review

Spinal Muscular Atrophy Type IIIb Complicated by Moyamoya Syndrome: A Case Report and Literature Review

Contact Info

Product

Resources

About