Berardinelli-Seip syndrome in a 6-year-old boy
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چکیده
منابع مشابه
Berardinelli-Seip syndrome in a 6-year-old boy.
A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with...
متن کاملPlummer Vinson Syndrome in a 6 Year Old Boy
The investigations showed hemoglobin level of 8.7g/dl (microcytic hypochromic), total white blood cell of 13300 cells/ cum and a platelet count of 5.1 lakh/cumm. The work up for anemia revealed very low serum ferritin levels (4.72 ng/ml), high total iron binding capacity and low transferin saturation, consistent with iron deficiency anemia. Stool routine examination showed ova of Ancylostoma du...
متن کاملPlummer Vinson Syndrome in a 6 Year Old Boy
The investigations showed hemoglobin level of 8.7g/dl (microcytic hypochromic), total white blood cell of 13300 cells/ cum and a platelet count of 5.1 lakh/cumm. The work up for anemia revealed very low serum ferritin levels (4.72 ng/ml), high total iron binding capacity and low transferin saturation, consistent with iron deficiency anemia. Stool routine examination showed ova of Ancylostoma du...
متن کاملPlummer Vinson Syndrome in a 6 Year Old Boy
The investigations showed hemoglobin level of 8.7g/dl (microcytic hypochromic), total white blood cell of 13300 cells/ cum and a platelet count of 5.1 lakh/cumm. The work up for anemia revealed very low serum ferritin levels (4.72 ng/ml), high total iron binding capacity and low transferin saturation, consistent with iron deficiency anemia. Stool routine examination showed ova of Ancylostoma du...
متن کاملA case of Berardinelli-Seip syndrome presenting with cirrhosis.
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentatio...
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ژورنال
عنوان ژورنال: Indian Journal of Dermatology, Venereology and Leprology
سال: 2008
ISSN: 0378-6323
DOI: 10.4103/0378-6323.45112