OBJECTIVE: To describe the clinical case of a child with celiac disease, Hashimoto's thyroiditis and Noonan syndrome. CASE DESCRIPTION: A Caucasian girl aged ten years and six months had liquid diarrhea for five months, and a "distended belly". At the physical exam: weight of 20,580g (p<3), length of 114cm (p<3), hydrated, anemic 2+/4+ and conscious. The patient presented triangular facies, apparent ocular hypertelorism, antimongoloid position of the palpebral fissures, ears with low implantation, micrognathia, short neck and pectus excavatum. The abdomen was globular, flaccid and painless; the liver was 2cm below the right costal margin. Lymphedema in right upper limb and lower limb edema was also noted. Laboratory exams showed microcytic and hypochromic anemia, deficit of total proteins, Hashimoto's thyroiditis and a 5-year delay in bone age. Abdominal ultrasonography showed the bowel slightly dilated. Due to lymphedema and chronic diarrhea, the initial hypothesis was intestinal lymphangiectasis, which was confirmed by a jejunal biopsy, which also showed celiac disease. The genetic evaluation revealed a 46XX karyotype and a clinical diagnosis of Noonan syndrome. COMMENTS: Different autoimmune diseases can be associated. In this case, the celiac disease and the Hashimoto's thyroiditis are possibly related to the presence of HLA system antigens. However, the association of the celiac disease with the Noonan syndrome is very rare, and this is the third report in the literature.
celiac disease; Noonan syndrome; Hashimoto disease; lymphangiectasis
