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White hoar frosting
White hoar frosting - 1.º Classificado (Fotografia)
Isabel Garrido, Armando Peixoto, Hélder Cardoso, Ana Patrícia Andrade, Guilherme Macedo
Serviço de Gastrenterologia, Centro Hospitalar Universitário de São João
This is a 63-year-old man, with a past medical history of retinitis pigmentosa and osteoporosis, who was referred due to gait ataxia and sensory neuropathy with 2 years of evolution. The patient reported steatorrhea and weight loss. Laboratory tests showed vitamin A, D and E deficiency and hypocholesterolemia. Capsule endoscopy revealed a white appearance throughout the small bowel mucosa, similar to “gelée blanche”. The histologic evaluation demonstrates vacuolization of enterocytes in intestinal villi of normal structure. Genotyping identified a homozygous SAR1B gene mutation, confirming the diagnosis of chylomicron retention disease. The patient started a low-fat diet supplemented with fat-soluble vitamins.
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