|Year : 2023 | Volume
| Issue : 1 | Page : 13-17
An endocrine perspective of juvenile Moyamoya syndrome/disease: A literature review
Rihab Faisal Alabedi1, Hussain Alsaffar2, Basma Adel Ibrahim3, Wasnaa Hadi Abdullah3
1 Department of Pediatrics, College of Medicine, University of Babylon, Babylon, Iraq
2 Pediatric Endocrinology and Diabetes Unit, Sultan Qaboos University Hospital, Muscat, Oman
3 Department of Pediatrics, College of Medicine, Al-Mustansiriyah University, Baghdad, Iraq
|Date of Submission||15-Oct-2022|
|Date of Acceptance||30-Oct-2022|
|Date of Web Publication||29-Apr-2023|
Rihab Faisal Alabedi
Department of Pediatrics, College of Medicine, University of Babylon, Babylon
Source of Support: None, Conflict of Interest: None
Moyamoya disease is a progressive rare type of cerebrovascular disease marked by stenosis and occlusion of the distal internal carotid arteries and circle of Willis branches, leading to the development of a collateral network of blood vessels at the base of the brain. For Moyamoya angiopathy, endocrinopathies may be risk factors, sequelae, or just coincidental findings. So, it is worth checking and regularly monitoring for these endocrinopathies in patients with Moyamoya angiopathy, aiming for early diagnosis and appropriate treatment.
Keywords: Adrenal, diabetes, endocrinopathy, growth hormone, hypogonadism, moyamoya, parathyroid, thyroid
|How to cite this article:|
Alabedi RF, Alsaffar H, Ibrahim BA, Abdullah WH. An endocrine perspective of juvenile Moyamoya syndrome/disease: A literature review. Med J Babylon 2023;20:13-7
|How to cite this URL:|
Alabedi RF, Alsaffar H, Ibrahim BA, Abdullah WH. An endocrine perspective of juvenile Moyamoya syndrome/disease: A literature review. Med J Babylon [serial online] 2023 [cited 2023 Jun 11];20:13-7. Available from: https://www.medjbabylon.org/text.asp?2023/20/1/13/375123
| Introduction|| |
In spite of being Moyamoya (MM) cerebral angiopathy a rare condition, it is the most common pediatric cerebrovascular disease in some countries. It is characterized by progressive stenosis or occlusion of the intracranial internal carotid artery and/or the proximal portion of the anterior cerebral artery and middle cerebral artery. This steno-occlusive pattern is associated with a compensatory development of a collateral network of vessels at the base of the brain, appearing as a “puff of smoke” on conventional angiography (“Moyamoya” in Japanese). This angiopathy was first described in Japan in 1957 and was called “MM disease” for the first time by Suzuki and Takaku in 1969.
MM syndrome is an MM angiopathy associated with an underlying condition (acquired or inherited), whereas patients with no underlying risk factors (idiopathic) are said to have MM disease., The MM disease etiology is unknown to date. There is an obvious familial tendency, in which there is a 6–12% risk of developing the disease if a person has a first-degree relative with MM disease., There is also an ethnic predilection for Asian populations, especially for people with Korean and Japanese ancestry. The MM disease incidence in East Asia is about 10 times that of Western countries. Genetic linkage studies revealed putative chromosomal locations linked to MM disease.,,, Apart from the genetic hypotheses, various environmental factors have been proposed as etiological factors of MM disease, including infectious agents, immunological responses with cellular components and autoantibodies, and hemodynamic stress to specific vascular loci.,, Whatever the cause, MM angiopathy increases the risk of ischemic and hemorrhagic brain damage.
MM angiopathy has two peaks: between 5 and 10 years of age and during the fourth decade,,,,, with a more rapid progressive course during childhood. Clinical presentation in adults may be due to ischemia or hemorrhage, whereas in children it is mainly due to ischemic events,,, which result in focal neurological signs, seizures, and progressive cognitive impairment. Other common presenting symptom is headache (migraine).
The anterior cerebral arteries and internal carotid arteries supply the hypothalamic-pituitary areas with blood; these arterial branches are close to the stenosed carotid fork in MM. Then through links to posterior cerebral and external cerebral artery branches, MM arteries provide collateral circulation to ischemic regions. The hypothalamus is perfused by reversed flow through these collaterals. Therefore, this defect can result in hypothalamic vascular insufficiency, leading to hypothalamic and pituitary dysfunction. In contrast, endocrinopathies may be a risk factor for MM angiopathy. This review will highlight the endocrinopathies that had been reported in conjunction with MM disease/syndrome, aiming to achieve optimal health through early diagnosis and treatment.
| Materials and Methods|| |
We searched the PubMed database using the following keywords: “MM growth failure,” “MM growth hormone deficiency,” “MM hypopituitarism,” “MM precocious puberty,” “MM hypogonadism,” “MM adrenal,” “MM diabetes insipidus,” “MM diabetes mellitus children,” “MM hypoparathyroidism,” “MM hyperparathyroidism,” “MM thyroid children,” “MM hypothyroidism children,” and “MM Gravis disease children” (last search 17 September 2022). We took into account the articles analyzing patients ≤18 years.
The main reported MM-associated endocrinopathies are as follows.
1. Growth hormone (GH) deficiency
MM disease can be associated with GH deficiency, which could be caused by chronic cerebrovascular insufficiency.
In 1990, the first case report of GH deficiency with MM disease was published, in which a 7-year-old boy with hypopituitarism presented with short stature. Then he had his first generalized convulsion 6 months after starting GH replacement therapy, which warranted further neuroradiological investigations to reveal the diagnosis of MM disease.
In 1999, Mootha et al. reported two cases of MM disease in association with GH deficiency. One of them was diagnosed with MM disease at the age of 17 months. After that, her growth was deteriorated and central hypothyroidism with GH deficiency was the diagnosis at the age of 9 years. An appropriate increase in growth velocity was achieved with hormonal replacement therapy (thyroxine and GH). The second one was a 6-year-old male, presented with short stature [height of -3 standard deviation score (SDS)], with a bone age of 4.5 years. He failed two GH provocation tests; therefore, it was decided to start him on GH therapy. However, he developed transient left hemiparesis before starting GH therapy for which a brain magnetic resonance imaging (MRI) study was conducted revealing the ischemic changes in white matter of both hemispheres, with the right one showing more alterations. The magnetic resonance angiogram showed bilateral anterior and middle cerebral arteries narrowing, MM disease was recognized, and the child underwent a right-side revascularization operation. GH replacement was started a year later. A recurrence of neurological symptoms was reported for which he underwent a revascularization surgery on the left side, and GH continued. The patient remained stable after those surgeries, and no side effects were reported from the GH therapy. He had exhibited an appropriate rise in his growth velocity.
Another case was reported by Kalina et al. in 2004. A 16-year-old boy was referred because of headaches and short stature. The height was -4.3 SDS; and the bone age was 11.5 years. No focal neurological deficits were observed. Isolated GH deficiency was diagnosed on the basis of baseline and stimulated GH measurement. On brain MRI, a malformation of the cerebral vessels was suspected, and angio-computed tomography and pan-angiography revealed an image suggestive of MM disease. Daily doses of GH were provided at a dose of 0.025 mg/kg/day. The first-year growth velocity was 12 cm per year and no side effects have been reported as a result of the treatment.
Parker et al., in 2009, reported a 15-year-old male known to have thalassemia since 15 months; he was assessed for short stature and found to have GH deficiency for which he was started on GH therapy. MRI was performed in view of GH deficiency and stenotic arteries were found suggestive of MM syndrome.
Abdullah and Alabedi, in 2022, reported two brothers with MM angiopathy and GH deficiency. The diagnosis of MM angiopathy for those brothers was made at the ages of 11 and 8.5 years when they presented with neurologic manifestations, and revascularization surgery was done for both of them. The diagnosis GH deficiency was made later (at ages of 13 and 10 years, respectively) as their growth was slowed. The brothers showed a good response to GH therapy (about 4 cm per 6 months).
Growth failure was also reported in a number of families with BRCC3-related MM and majority of the affected members had partial GH deficiency.,,
According to this review, GH deficiency is common in MM angiopathy, and their presentations may occur at the same time, or one precedes the other.
2. Precocious puberty
Precocious puberty is uncommon in MM disease. Kazumata et al. reported the first case of precocious puberty associated with MM disease in 1996, in which an 8-year-old girl presented with menarche, advanced breast development (Tanner’s stage III), and presence of pubic hair, on a medical background history of pustular psoriasis. Her pubertal precocity started at the age of 7, which led to advancing in her bone age (11 years) at presentation. A normal neurological examination was reported, but a brain MRI revealed numerous flow voids in the area of basal ganglia on both sides, indicating the existence of MM disease. The proximal segment of the anterior and middle cerebral arteries and the distal segment of the internal carotid arteries were all stenosed on cerebral angiograms. In the base of the brain, a network system of collateral vessels (MM vessels) was also found, confirming the presence of MM disease. The precocious puberty was treated medically. Kazumata et al. suggested that ischemic changes or a little destructive damage of the hypothalamus caused by dilated perforators was the cause of this patient’s early puberty.
BRCC3-related MM angiopathy had been reported in the literature with a syndromic presentation including hypergonadotropic hypogonadism and partial GH deficiency.,,
In 2022, another unique association was described: a 14-year-old male who was surgically treated for cryptorchidism at a younger age suffered from recurrent seizures and decline cognitive skills, presented with transient bilateral hemiparesis, found to have MM angiopathy. Further testing revealed Klinefelter syndrome.
No case of hypogonadotropic hypogonadism had been reported in association with MM angiopathy in patients 18 years old or younger, whereas one was mentioned for a 34-year-old man with empty sella syndrome.
Mootha et al. in 1999 reported a Caucasian female who had MM, central hypothyroidism, and GH deficiency.
In several studies assessing the risk factors for MM disease progression, Graves’ disease is a well-known medical disorder that has been associated with a rapid progression of MM disease., Previous research had demonstrated that vasculopathy can be prevented by suppressing thyrotoxicosis, as the clinical progression of MM disease patients with concurrent Graves’ disease is quicker than that of patients without Graves’ disease. Appropriate antithyroid medication can reduce the risk of ischemic episodes or infarctions by reducing the hemodynamic load on the brain. The association between MM and hyperthyroidism was thought to be attributed to increased metabolism and oxygen consumption in the brain, which are harmful to arterial walls, sympathetic nervous activation that may cause cerebral arteries stenosis, and cellular proliferation and vascular dysregulation due to T-cell dysfunction in autoimmune thyroid disease.,, It was postulated that in MM disease with hyperthyroidism, the need for revascularization surgery in addition to antithyroid therapy depends on the mechanisms of the vascular changes. So, antithyroid therapy is sufficient if hyperthyroidism is the cause of vascular changes and symptoms. However, if immune-mediated mechanisms are considered to be the cause of vascular changes and symptoms, surgical revascularization might be needed.
In 2005, Golomb et al. reported a 10-year prepubertal girl with bilateral MM angiopathy and Graves’ disease diagnosed after the sudden onset of left face, arm, and leg weakness. There was a history of easy fatigability, warm feeling, loose stools, and throbbing headache in the previous 2 years. Thyroid gland examination showed 4 and 3 cm diameter right and left lobes, respectively. Thyroid radioablation was the modality of therapy used in this patient. Hypothyroidism developed 6 weeks later and levothyroxine was started. MM was treated by cranial revascularization followed by daily aspirin and verapamil.
Another case was reported in 2014 when a 12-year-old girl with Graves’ disease started to develop neurological symptoms (deterioration in physical and school performances, seizure, and speech difficulty). MM angiopathy was found in brain MRI. Graves’ disease was treated by subtotal thyroidectomy as it was not controlled with antithyroid medication. MM angiopathy was treated by shunt operation between the left superficial temporal artery and middle cerebral artery 2 months after thyroidectomy.
In 2011, a case–control study that involved 114 patients with MM disease aged <16 years demonstrated a significant association of MM disease with hyperthyroidism (overt and subclinical) and increased thyroid antibodies (antithyroperoxidase or antithyroglobulin), whereas there was no such association with hypothyroidism (overt and subclinical).
A retrospective study published in 2017 that included 37 patients (1–67 years old) with MM disease found that elevated thyroid antibody (not thyroid function) was the only variable that was significantly associated with an aggressive presentation of MM disease (hemorrhage, major stroke, or frequent transient ischemic attacks), which supports the hypothesis that MM pathophysiology is related to immune-mediated processes.
6. Hypoparathyroidism and hyperparathyroidism
While there was no reported case of hypoparathyroidism in association with MM angiopathy, there was one adult case for hyperparathyroidism (60-year-old male) with neurofibromatosis type 1.
7. Adrenal disease
There were only three reported adult cases. Two of them had congenital adrenal hyperplasia and the third one had pheochromocytoma as a part of multiple endocrine neoplasia type 2A complicated by MM syndrome.,,
8. Diabetes insipidus
In 2010, Shibata et al. reported a 15-year-old girl with central diabetes insipidus and her radiologic examination revealed neuroepiphyseal germinoma and MM disease that represent a rare incidental combination.
Another case of diabetes insipidus was described in 2017 for an 18-year-old female with MM disease who underwent an external carotid to internal carotid bypass. Diabetes insipidus was related to ketamine infusion that was used during the procedure, not to MM disease itself.
In conclusion, when MM patient develops diabetes insipidus another cause must be searched.
9. Diabetes mellitus
The association between MM angiopathy and diabetes mellitus in adults was documented in many studies.,,,,,, For children, in 2005, Krebs et al. reported MM disease in a 12-year-old boy who had poorly controlled type 1 diabetes mellitus for 10 years. The authors considered their concurrence a coincidental, and the MM angiopathy may be reinforced by the underlying accelerated atherosclerosis. Concurrence of MM angiopathy with diabetes mellitus/insulin resistance had also been described in microcephalic osteodysplastic primordial dwarfism type II, an autosomal recessive inherited disease.
| Conclusion|| |
For MM angiopathy, endocrinopathies may be risk factors, sequelae, or just coincidental findings. So, it is worth checking and regularly monitoring for these endocrinopathies in patients with MM angiopathy aimed for early diagnosis and appropriate treatment.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Scott RM, Smith ER Moyamoya disease and Moyamoya syndrome. N Engl J Med 2009;360:1226-37.
Takeuchi K, Shimizu K Hypoplasia of the bilateral internal carotid arteries. Brain Nerve 1957;9:37-43.
Suzuki J, Takaku A Cerebrovascular “Moyamoya” disease. Disease showing abnormal net-like vessels in base of brain. Arch Neurol 1969;20:288-99.
Fukui M Guidelines for the diagnosis and treatment of spontaneous occlusion of the circle of Willis (“Moyamoya” disease). Research Committee on Spontaneous Occlusion of the Circle of Willis (Moyamoya Disease) of the Ministry of Health and Welfare, Japan. Clin Neurol Neurosurg 1997;99(Suppl. 2):S238-40. PMID: 9409446.
Baba T, Houkin K, Kuroda S Novel epidemiological features of Moyamoya disease. J Neurol Neurosurg Psychiatry 2008;79:900-4.
Wakai K, Tamakoshi A, Ikezaki K, Fukui M, Kawamura T, Aoki R, et al
. Epidemiological features of Moyamoya disease in Japan: Findings from a nationwide survey. Clin Neurol Neurosurg 1997;99(Suppl. 2):S1-5.
Han DH, Nam DH, Oh CW Moyamoya disease in adults: Characteristics of clinical presentation and outcome after encephalo-duro-arterio-synangiosis. Clin Neurol Neurosurg 1997;99(Suppl. 2):S151-5.
Han DH, Kwon OK, Byun BJ, et al
; Korean Society for Cerebrovascular Disease. A co-operative study: Clinical characteristics of 334 Korean patients with Moyamoya disease treated at neurosurgical institutes (1976-1994). The Korean Society for Cerebrovascular Disease. Acta Neurochir (Wien) 2000;142:1263-73; discussion 1273-4. doi: 10.1007/s007010070024. PMID: 11201642.
Guey S, Tournier-Lasserve E, Hervé D, Kossorotoff M Moyamoya disease and syndromes: From genetics to clinical management. Appl Clin Genet 2015;8:49-68.
Kim SK, Cho BK, Phi JH, Lee JY, Chae JH, Kim KJ, et al
. Pediatric Moyamoya disease: An analysis of 410 consecutive cases. Ann Neurol 2010;68:92-101.
Smith ER, Scott RM Moyamoya: Epidemiology, presentation, and diagnosis. Neurosurg Clin N Am 2010;21:543-51.
Yonekawa Y, Ogata N, Kaku Y, Taub E, Imhof HG Moyamoya disease in Europe, past and present status. Clin Neurol Neurosurg 1997;99(Suppl. 2):S58-60.
Ikeda H, Sasaki T, Yoshimoto T, Fukui M, Arinami T Mapping of a familial Moyamoya disease gene to chromosome 3p24.2-p26. Am J Hum Genet 1999;64:533-7.
Inoue TK, Ikezaki K, Sasazuki T, Matsushima T, Fukui M Linkage analysis of Moyamoya disease on chromosome 6. J Child Neurol 2000;15:179-82.
Mineharu Y, Liu W, Inoue K, Matsuura N, Inoue S, Takenaka K, et al
. Autosomal dominant Moyamoya disease maps to chromosome 17q25.3. Neurology 2008;70:2357-63.
Yamauchi T, Tada M, Houkin K, Tanaka T, Nakamura Y, Kuroda S, et al
. Linkage of familial Moyamoya disease (spontaneous occlusion of the circle of Willis) to chromosome 17q25. Stroke 2000;31:930-5.
Seol HJ, Shin DC, Kim YS, Shim EB, Kim SK, Cho BK, et al
. Computational analysis of hemodynamics using a two-dimensional model in Moyamoya disease. J Neurosurg Pediatr 2010;5:297-301.
Tanigawara T, Yamada H, Sakai N, Andoh T, Deguchi K, Iwamura M Studies on cytomegalovirus and Epstein–Barr virus infection in Moyamoya disease. Clin Neurol Neurosurg 1997;99(Suppl. 2):S225-8. doi: 10.1016/s0303-8467(97)00049-8. PMID: 9409443.
Yamada H, Deguchi K, Tanigawara T, Takenaka K, Nishimura Y, Shinoda J, et al
. The relationship between Moyamoya disease and bacterial infection. Clin Neurol Neurosurg 1997;99(Suppl. 2):S221-4.
Burke GM, Burke AM, Sherma AK, Hurley MC, Batjer HH, Bendok BR Moyamoya disease: A summary. Neurosurg Focus 2009;26:E11.
Fukui M, Kono S, Sueishi K, Ikezaki K Moyamoya disease. Neuropathology 2000;20(suppl.):S61-4.
Scott RM, Smith JL, Robertson RL, Madsen JR, Soriano SG, Rockoff MA Long-term outcome in children with Moyamoya syndrome after cranial revascularization by pial synangiosis. J Neurosurg 2004;100:142-9.
Ibrahimi DM, Tamargo RJ, Ahn ES Moyamoya disease in children. Childs Nerv Syst 2010;26:1297-308.
Mootha SL, Riley WJ, Brosnan PG Hypothalamic-pituitary dysfunction associated with Moyamoya disease in children. J Pediatr Endocrinol Metab 1999;12:449-53.
Phi JH, Wang KC, Lee JY, Kim SK Moyamoya syndrome: A window of Moyamoya disease. J Korean Neurosurg Soc 2015;57:408-14.
Kalina M, Kalina-Faska B, Wojaczynska-Stanek K, Malecka-Tendera E, Marszal E Growth hormone deficiency associated with Moyamoya disease in a 16 year-old boy. Hormones (Athens) 2004;3:204-7.
MacKenzie CA, Milner RD, Bergvall U, Powell T Growth failure secondary to Moyamoya syndrome. Arch Dis Child 1990;65:232-3.
Parker TM, Ward LM, Johnston DL, Ventureya E, Klaassen RJ A case of Moyamoya syndrome and hemoglobin E/beta-thalassemia. Pediatr Blood Cancer 2009;52:422-4.
Abdullah WH, Alabedi RF Moyamoya angiopathy with growth hormone deficiency in 13 years and 10 years old boys brothers in Iraq: A case report. Med J Babylon 2022;19:503-6.
Pyra P, Darcourt J, Aubert-Mucca M, Brandicourt P, Patat O, Cheuret E, et al
. Case report: Successful cerebral revascularization and cardiac transplant in a 16-year-old male with syndromic Brcc3-related Moyamoya angiopathy. Front Neurol 2021;12:655303.
Miskinyte S, Butler MG, Hervé D, Sarret C, Nicolino M, Petralia JD, et al
. Loss of Brcc3 deubiquitinating enzyme leads to abnormal angiogenesis and is associated with syndromic Moyamoya. Am J Hum Genet 2011;88:718-28.
Hervé D, Touraine P, Verloes A, Miskinyte S, Krivosic V, Logeart D, et al
. A hereditary Moyamoya syndrome with multisystemic manifestations. Neurology 2010;75:259-64.
Kazumata K, Kuroda S, Houkin K, Abe H, Kiyohara T, Kobayashi H, et al
. Moyamoya disease with precocious puberty and pustular psoriasis. Childs Nerv Syst 1996;12:339-42.
Ghosh R, Das S, Roy D, Ray A, Benito-León J Moyamoya angiopathy in a case of Klinefelter syndrome. Childs Nerv Syst 2022;38:1195-9.
Lin TJ, Hwang FC, Chiu WT, Lin JW, Tsai SH, Chang CK Empty sella, hypogonadism and hypopituitarism secondary to Moyamoya disease. J Clin Neurosci 2005;12:472-4.
Kim SJ, Heo KG, Shin HY, Bang OY, Kim GM, Chung CS, et al
. Association of thyroid autoantibodies with Moyamoya-type cerebrovascular disease: A prospective study. Stroke 2010;41:173-6.
Im SH, Oh CW, Kwon OK, Kim JE, Han DH Moyamoya disease associated with graves disease: Special considerations regarding clinical significance and management. J Neurosurg 2005;102:1013-7.
Malik S, Russman AN, Katramados AM, Silver B, Mitsias PD Moyamoya syndrome associated with Graves’ disease: A case report and review of the literature. J Stroke Cerebrovasc Dis 2011;20:528-36.
Chen JB, Lei D, He M, Sun H, Liu Y, Zhang H, et al
. Clinical features and disease progression in Moyamoya disease patients with Graves disease. J Neurosurg 2015;123:848-55.
Inaba M, Henmi Y, Kumeda Y, Ueda M, Nagata M, Emoto M, et al
. Increased stiffness in common carotid artery in hyperthyroid Graves’ disease patients. Biomed Pharmacother 2002;56:241-6.
Nakamura K, Yanaka K, Ihara S, Nose T Multiple intracranial arterial stenoses around the circle of Willis in association with Graves’ disease: Report of two cases. Neurosurgery 2003;53:1210-4; discussion 1214-5.
Panegyres PK, Morris JG, O’Neill PJ, Balleine R Moyamoya-like disease with inflammation. Eur Neurol 1993;33:260-3.
Ohba S, Nakagawa T, Murakami H Concurrent Graves’ disease and intracranial arterial stenosis/occlusion: Special considerations regarding the state of thyroid function, etiology, and treatment. Neurosurg Rev 2011;34:297-304; discussion 304.
Golomb MR, Biller J, Smith JL, Edwards-Brown M, Sanchez JC, Nebesio TD, et al
. A 10-year-old girl with coexistent Moyamoya disease and Graves’ disease. J Child Neurol 2005;20:620-4.
Hayashi H, Kawatani M, Ohta G, Kometani H, Ohshima Y [Assessment of brain perfusion by arterial spin-labeling MR imaging in qusai-Moyamoya disease associated with Graves’ disease]. No To Hattatsu 2014;46:297-300.
Li H, Zhang ZS, Dong ZN, Ma MJ, Yang WZ, Han C, et al
. Increased thyroid function and elevated thyroid autoantibodies in pediatric patients with Moyamoya disease: A case–control study. Stroke 2011;42:1138-9.
Lanterna LA, Galliani S, Zangari R, Conti L, Brembilla C, Gritti P, et al
. Thyroid autoantibodies and the clinical presentation of Moyamoya disease: A prospective study. J Stroke Cerebrovasc Dis 2018;27:1194-9.
Yamamoto Y, Kodama K, Yokoyama S, Takeda M, Michishita S A pleural solitary fibrous tumor, multiple gastrointestinal stromal tumors, Moyamoya disease, and hyperparathyroidism in a patient associated with Nf1. Case Rep Surg 2015;2015:375416.
Vasudevan RC, Madayi RV, Nambiar RR Moyamoya syndrome in a male pseudohermaphrodite patient with congenital adrenal hyperplasia—A rare association. Case report and review of literature. Br J Neurosurg 2019;33:1-3.
Huang J, Zhou D, Dong N, Ding C, Liu Y, Li F Clinical and genetic analysis of a patient with coexisting 17a-hydroxylase/17,20-lyase deficiency and Moyamoya disease. Front Genet 2022;13:845016.
Matano F, Murai Y, Watanabe A, Shirokane K, Igarashi T, Shimizu K, et al
. Case report: A case of Moyamoya syndrome associated with multiple endocrine neoplasia type 2a. Front Endocrinol (Lausanne) 2021;12:703410.
Shibata Y, Matsuda M, Suzuki K, Matsumura A Cystic neurohypophysial germinoma associated with Moyamoya disease. Neurol Sci 2010;31:189-92.
Gaffar S, Eskander JP, Beakley BD, McClure BP, Amenta P, Pierre N A case of central diabetes insipidus after ketamine infusion during an external to internal carotid artery bypass. J Clin Anesth 2017;36:72-5.
Bower RS, Mallory GW, Nwojo M, Meyer FB, Kudva YC Diabetes mellitus and the Moyamoya syndrome. Ann Intern Med 2012;157:387-8.
Hughes JW, Wyckoff JA, Hollander AS, Derdeyn CP, McGill JB Moyamoya syndrome causing stroke in young women with type 1 diabetes. J Diabetes Complicat 2016;30:1640-2.
Chen JB, Liu Y, Zhou LX, Sun H, He M, You C Prevalence of autoimmune disease in Moyamoya disease patients in western Chinese population. J Neurol Sci 2015;351:184-6.
Bolem N, Nga VDW, Chou N, Yeo TT, Lin J, Sharma VK Coexisting Moyamoya syndrome and type 1 diabetes mellitus: A case report and review of the literature. Asian J Neurosurg 2020;15:194-7.
Akamatsu Y, Fujimura M, Sakata H, Endo H, Itabashi R, Tominaga T [A case of akin Moyamoya disease associated with type-I diabetes mellitus managed by extracranial-intracranial bypass]. No Shinkei Geka 2015;43:227-33.
Bower RS, Mallory GW, Nwojo M, Kudva YC, Flemming KD, Meyer FB Moyamoya disease in a primarily white, midwestern US population: Increased prevalence of autoimmune disease. Stroke 2013;44:1997-9.
Wang CY, Grupke SL, Roberts J, Lee J, Fraser JF Factors associated with Moyamoya syndrome in a Kentucky regional population. J Stroke Cerebrovasc Dis 2018;27:793-800.
Krebs A, Schmidt-Trucksäss A, Wagner J, Krebs K, Doerfer J, Schwab KO Adult-like but regressive increase of intima-media thickness and roughness in a child with type 1 diabetes. Pediatr Diabetes 2005;6:161-4.
Duker A, Jackson A, Bober M Microcephalic osteodysplastic primordial dwarfism type II. 2021 Dec 30. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, et al
, editors. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2022. PMID: 34978779.