Superficial siderosis associated with aceruloplasminemia. Case report

Matsushima, Akira; Yoshida, Takehiko; Yoshida, Katsumi; Ohara, Shuichi; Toyoshima, Yasuko; Kakita, Akiyoshi; Ikeda, Shu‐ichi

doi:10.1016/j.jns.2014.02.014

Cited by 9 publications

(4 citation statements)

References 14 publications

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“…Most cases originated from Japan; the geographic distribution of the cases is shown in Figure . Data on treatment and follow‐up were available in 28 original case descriptions, with follow‐up ranging from 1 week to 6 years . In 16 cases, additional information on presentation and follow‐up could be added from 14 later published articles (Table S1).…”

Section: Resultsmentioning

confidence: 99%

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Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

et al. 2015

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There is a diagnostic window during which diabetes and anaemia are present although there is an absence of neurological symptoms. Screening for aceruloplasminemia in adult non-obese individuals presenting with antibody-negative, insulin-dependent diabetes mellitus and unexplained anaemia is recommended. The combination of ferritin and transferrin saturation provides a sensitive initial measure for aceruloplasminemia.

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Section: Resultsmentioning

confidence: 99%

“…The review of the literature showed 52 original case descriptions in 39 articles . Genealogical studies of the reported cases revealed seven additional patients without detailed case descriptions .…”

Section: Resultsmentioning

confidence: 99%

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

et al. 2015

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“…The mechanism of siderosis in kwashiorkor is not clear. Siderosis in our current case may also be related to the patient’s hypoceruloplasminemia and low copper levels [ 25 , 26 ]. In addition, the increased iron deposition in our case may be related to the patient’s history of alcohol dependence prior to protein malnutrition.…”

Section: Discussionmentioning

confidence: 99%

Severe Protein-Calorie Malnutrition-Associated Hepatic Steatosis in a Woman Who Had Roux-en-Y Gastric Bypass for Morbid Obesity Thirteen Years Ago

Kim

Saulino

et al. 2021

Gastroenterol Res

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Hepatic steatosis is common in everyday liver pathology practice. There are many etiologies leading to hepatic steatosis. These etiologies include metabolic syndrome, alcohol, medications, monogenetic disease, infectious diseases, and malnutrition. Correct diagnosis of underlying etiology through clinicopathological correlation is key to adequate treatment and optimal outcome for the patient. In this case report, we describe severe protein-calorie malnutrition as an etiology for hepatic steatosis in a middle-aged woman who presented with lethargy, low body mass index (15.8 kg/m 2 ), abdominal distention and bilateral lower extremity edema, hyperammonemia, and hypoalbuminemia, 13 years after Roux-en-Y gastric bypass for morbid obesity. Laboratory tests revealed hyperammonemia, hypoalbuminemia, and low ceruloplasmin levels. Hemodynamic measurement demonstrated high hepatic venous pressure gradient of 12 mm Hg. Transjugular liver biopsy showed moderate macrovesicular steatosis, mild siderosis, and abundant lipofuscin but no evidence of fibrosis, cirrhosis, or steatohepatitis. This patient was treated with lactulose and enteral feeding, however, the patient died of progressive liver failure 3 weeks after admission. We also review relevant literature to help diagnose protein-calorie malnutrition (kwashiorkor) and hepatic steatosis as a possible late complication of Roux-en-Y gastric bypass. In patients with hepatic steatosis, encephalopathy, hyperammonemia and portal hypertension, malnutrition should be considered as an etiology and diagnosed with a synthesis of clinical, pathological, and laboratory information. Kwashiorkor is a severe disease and should be treated promptly as it may be fatal as in our case.

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“…Aceruloplasminemia causes the accumulation of iron in the entire body, especially the brain, thyroid, heart, liver, and pancreas ( 1 ). CT and MRI are particularly useful means of evaluating iron deposition in organs ( 5 , 6 ).…”

Section: Discussionmentioning

confidence: 99%

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene

et al. 2018

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A 72-year-old Japanese woman suffered from mild pancytopenia 3 years before her initial hospitalization. On admission, the levels of trace elements, particularly copper, and ceruloplasmin were significantly decreased in her blood serum. Abdominal lymphadenopathy and bone marrow dysplasia were detected. Hemosiderin deposition was observed in her lymph nodes and bone marrow, and magnetic resonance imaging suggested its deposition in various organs. A novel missense pathogenic variant (c.T1670G) was detected in the ceruloplasmin gene, resulting in an amino acid change (p.M557R). When copper deficiency is accompanied by cytopenia and dysplasia in a patient, it is worthwhile to consider a differential diagnosis of aceruloplasminemia.

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Superficial siderosis associated with aceruloplasminemia. Case report

Cited by 9 publications

References 14 publications

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

Aceruloplasminemia presents as Type 1 diabetes in non‐obese adults: a detailed case series

Severe Protein-Calorie Malnutrition-Associated Hepatic Steatosis in a Woman Who Had Roux-en-Y Gastric Bypass for Morbid Obesity Thirteen Years Ago

Pancytopenia and Myelodysplastic Changes in Aceruloplasminemia: A Case with a Novel Pathogenic Variant in the Ceruloplasmin Gene

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