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A case of Madelung's disease accompanied by Klinefelter's syndrome.

Ozderya A, Temizkan S, Aydin Tezcan K, Ozturk FY, Altuntas Y - Endocrinol Diabetes Metab Case Rep (2015)

Bottom Line: The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature.A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido.Genetic research showed no mitochondrial DNA mutation.

View Article: PubMed Central - PubMed

Affiliation: Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital , 34890, Istanbul , Turkey.

ABSTRACT

Unlabelled: Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.

Learning points: Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.The exact cause of the disease is unknown.Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease.

No MeSH data available.


Related in: MedlinePlus

(A) Histopathological examination of the fat tissue. Mature adipocytes (H&E, 4×10); (B) histopathological examination of the fat tissue. Mature adipocytes (H&E, 10×10); (C) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 4×10); (D) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 10×10).
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fig3: (A) Histopathological examination of the fat tissue. Mature adipocytes (H&E, 4×10); (B) histopathological examination of the fat tissue. Mature adipocytes (H&E, 10×10); (C) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 4×10); (D) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 10×10).

Mentions: A cervical MRI examination revealed an encapsulated fat accumulation ∼20 cm in diameter in his nuchal and bilateral supraclavicular area (Fig. 2). Biopsies from these areas were concordant with lipomatous tissue (Fig. 3). An abdominal CT examination revealed an enlarged liver (cranio-caudal axis: 24 cm) and spleen. After a differential diagnosis of the causes of the hepatosplenomegaly, a Tru-Cut liver biopsy was made. It revealed a grade 3 macrovesicular steatosis, mild lobular inflammation and mild periportal fibrosis (Fig. 3). An echocardiographic examination was normal. There was an oedema and an ulcerative skin lesion on his left leg, so an arterial and venous vascular Doppler ultrasonographic examination was made. There were no arterial or venous lesions. An electroneuromyography (EMG) examination showed polyneuropathy, which is consistent with bilateral sensory and motor fibre involvement. Genetic research showed no mitochondrial DNA (A8344G) mutation.


A case of Madelung's disease accompanied by Klinefelter's syndrome.

Ozderya A, Temizkan S, Aydin Tezcan K, Ozturk FY, Altuntas Y - Endocrinol Diabetes Metab Case Rep (2015)

(A) Histopathological examination of the fat tissue. Mature adipocytes (H&E, 4×10); (B) histopathological examination of the fat tissue. Mature adipocytes (H&E, 10×10); (C) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 4×10); (D) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 10×10).
© Copyright Policy - license
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4419150&req=5

fig3: (A) Histopathological examination of the fat tissue. Mature adipocytes (H&E, 4×10); (B) histopathological examination of the fat tissue. Mature adipocytes (H&E, 10×10); (C) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 4×10); (D) grade 3 macrovesicular steatosis in hepatocyte cytoplasm (H&E, 10×10).
Mentions: A cervical MRI examination revealed an encapsulated fat accumulation ∼20 cm in diameter in his nuchal and bilateral supraclavicular area (Fig. 2). Biopsies from these areas were concordant with lipomatous tissue (Fig. 3). An abdominal CT examination revealed an enlarged liver (cranio-caudal axis: 24 cm) and spleen. After a differential diagnosis of the causes of the hepatosplenomegaly, a Tru-Cut liver biopsy was made. It revealed a grade 3 macrovesicular steatosis, mild lobular inflammation and mild periportal fibrosis (Fig. 3). An echocardiographic examination was normal. There was an oedema and an ulcerative skin lesion on his left leg, so an arterial and venous vascular Doppler ultrasonographic examination was made. There were no arterial or venous lesions. An electroneuromyography (EMG) examination showed polyneuropathy, which is consistent with bilateral sensory and motor fibre involvement. Genetic research showed no mitochondrial DNA (A8344G) mutation.

Bottom Line: The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature.A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido.Genetic research showed no mitochondrial DNA mutation.

View Article: PubMed Central - PubMed

Affiliation: Division of Endocrinology and Metabolic Diseases, Kartal Dr Lutfi Kirdar Training and Research Hospital , 34890, Istanbul , Turkey.

ABSTRACT

Unlabelled: Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric, encapsulated lipomatosis. The exact cause of the disease is unknown; it may be associated with chronic alcoholism and mutations in mitochondrial DNA (A8344G), but there have been cases without these factors reported in the literature. A 29-year-old man with a 6-year history of diabetes mellitus was admitted to our hospital for poorly regulated diabetes and decreased libido. He was not an alcohol consumer. His family history was unremarkable. Physical examination revealed that he had a eunuchoid body shape. There was a symmetric excess fat accumulation in his submandibular, deltoid, nuchal, suprapubic and inguinal areas. He was diagnosed with Madelung's disease, and imaging studies supported the diagnosis. Hormonal evaluation revealed a hypergonadotropic hypogonadism. Karyotype analysis revealed a 47,XXY mutation. Genetic research showed no mitochondrial DNA mutation. Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease. The present study represents the first reported case of Madelung's disease accompanied by Klinefelter's syndrome.

Learning points: Madelung's disease is a rare fat metabolism disorder characterised by benign multiple symmetric and encapsulated lipid accumulation.The exact cause of the disease is unknown.Metabolic disorders, such as diabetes mellitus, hyperlipidaemia, hyperuricaemia and liver disease, endocrine gland diseases, such as hypothyroidism, and neurological diseases, such as polyneuropathy and cognitive disorders, may accompany Madelung's disease.

No MeSH data available.


Related in: MedlinePlus