Endocrinology and Metabolism

Ae Ryoung Jin (Jin AR)

2 Articles

A Case of Adult-Onset Adrenoleukodystrophy Combined with Moyamoya Disease.: Yong Cheol Kim, Byoung Hyun Park, Tae Yang Yu, Ae Ryoung Jin, Hye Jung Noh, Chung Yong Yang, Ha Young Kim, Chung Gu Cho; J Korean Endocr Soc. 2009;24(1):58-62. Published online March 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.1.58

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Adrenoleukodystrophy (ALD) is a rare inherited metabolic disease associated with the accumulation of very long chain fatty acids (VLCFA) in the central and peripheral nervous systems and adrenal glands, and leads to leukoencephaly myeloneuropathy, adrenal insufficiency, and hypogonadism. Frequent phenotypes, which account for 80% of cases, are infantile ALD and adrenomyeloneuropathy. Adult-onset ALD is rare (1~3%). The diagnosis of X-linked ALD is based on clinical findings and abnormal plasma concentrations of VLCFA. Here, we report a rare case of adult-onset ALD, which might involve a brain vascular operation as an aggravating factor, combined with moyamoya disease, in a 35-year-old male who presented with adrenal insufficiency, abnormal brain imaging, and elevated VLCFA levels.

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Clinical and Genetic Aspects in Twelve Korean Patients with Adrenomyeloneuropathy
Hyung Jun Park, Ha Young Shin, Hoon-Chul Kang, Byung-Ok Choi, Bum Chun Suh, Ho Jin Kim, Young-Chul Choi, Phil Hyu Lee, Seung Min Kim
Yonsei Medical Journal.2014; 55(3): 676. CrossRef
An Incidentally Identified Sporadic Case with Adrenoleukodystrophy with the ABCD1 Mutation
Soon-Jung Shin, Ja Hye Kim, Yoo-Mi Kim, Gu-Hwan Kim, Beom Hee Lee, Han-Wook Yoo
Journal of Genetic Medicine.2013; 10(1): 43. CrossRef

A Case of Pheochromocytoma That Presented as Inverted Takotsubo Cardiomyopathy.: Meyoung Cho, Ik Sang Shin, Ae Ryoung Jin, Jong Bin Park, Hye Jung Noh, Hun Soo Kim, Ha Young Kim, Byoung Hyun Park, Chung Gu Cho, Jin Won Jeong; J Korean Endocr Soc. 2009;24(1):47-53. Published online March 1, 2009; DOI: https://doi.org/10.3803/jkes.2009.24.1.47

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Abstract PDF

A 52-year-old female was admitted to the hospital with abdominal pain. Her electrocardiogram revealed ST depressions in leads II, III, aVF and V2-5. The echocardiography showed transient cardiomyopathy with akinesia of the basal and mid portions of the left ventricle and hyperkinesia of the apex. There was no evidence of any vascular lesion on the emergency coronary angiography. She was diagnosed with pheochromocytoma by abdominal computed tomography and the post-operative pathologic examinations. These findings led us to a diagnosis of inverted Takotsubo cardiomyopathy related with pheochromocytoma. The recognition of such a rare cardiac manifestation should be considered in the diagnosis of pheochromocytoma, and especially in the circumstances of acute heart failure.

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A Case of Malignant Pheochromocytoma Presenting as Inverted Takotsubo-Like Cardiomyopathy
Jung Eun Jang, Hyuk Hee Kwon, Min Jung Lee, Chang Hee Jung, Sung Jin Bae, Hong Kyu Kim, Woo Je Lee
Endocrinology and Metabolism.2012; 27(1): 98. CrossRef

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