Infantile juvenile polyposis syndrome: A rare cause of protein-losing enteropathy
نویسندگان
چکیده
منابع مشابه
A rare cause of protein-losing enteropathy and growth retardation in infancy: infantile systemic hyalinosis.
Infantile systemic hyalinosis is a rare, progressive, fatal condition with a presumably autosomal recessive mode of inheritance. It is characterized by widespread deposition of hyaline material in many tissues. We present a three-month-old girl with hypoproteinemia, growth retardation, and generalized stiff and edematous skin, who was diagnosed as protein-losing enteropathy. A final diagnosis o...
متن کاملCap polyposis with protein-losing enteropathy.
A 56-year-old male with a history of mild mental retardation, noninsulin-dependent diabetes mellitus, and hypertension presented with diarrhea and lower extremity edema of several months’ duration. The patient’s symptoms started with mild, intermittent diarrhea; several months later, his diarrhea became persistent, and he was admitted to a hospital. The patient was given metronidazole (Flagyl, ...
متن کاملA Novel SMAD4 Mutation Causing Severe Juvenile Polyposis Syndrome with Protein Losing Enteropathy, Immunodeficiency, and Hereditary Haemorrhagic Telangiectasia
Juvenile polyposis syndrome (JPS) is a rare genetic disorder characterized by juvenile polyps of the gastrointestinal tract. We present a new pathogenic mutation of the SMAD4 gene and illustrate the need for a multidisciplinary health care approach to facilitate the correct diagnosis. The patient, a 47-year-old Caucasian woman, was diagnosed with anaemia at the age of 12. During the following 3...
متن کاملWaldmann's disease: a rare cause of protein losing enteropathy in an adult patient.
Primary intestinal lymphangiectasia or Waldmann's disease is an uncommon cause of protein losing enteropathy with an unknown etiology and is usually diagnosed during childhood. It is characterized by dilation and leakage of intestinal lymph vessels leading to hypoalbuminemia, hypogammaglobulinemia and lymphopenia. Differential diagnosis should include erosive and non-erosive gastrointestinal di...
متن کامل[Protein-losing enteropathy].
Protein-losing enteropathy (PLE) is a rare complication of intestinal diseases. Its main manifestation is hypoproteinemic edema. The diagnosis of PLE is based on the verification of protein loss into the intestinal lumen, by determining fecal α1-antitrypsin concentration and clearance. The localization of the affected colonic segment is clarified using radiologic and endoscopic techniques. The ...
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ژورنال
عنوان ژورنال: Journal of Surgery and Medicine
سال: 2020
ISSN: 2602-2079
DOI: 10.28982/josam.729936