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Within the first 24 hr of life, she also had hypoglycemias with hyperinsulinism and started treatment with diazoxide that she continued throughout infancy. By ultrasonography and abdomen MRI, she was found to have hepatomegaly and enlargement of pancreas body, but no renal malformations or adrenal mass were detected. Cardiac ultrasonography showed ventricular wall thickening without a significant left outflow tract obstruction. At the age of 6 years, she developed tonic seizures with normal blood glucose level and topiramate was started with good control of the seizures. No brain abnormalities were detected by neuroimaging studies (cranial CT and brain MRI). Her motor and cognitive development was delayed; she walked independently at 18 months of age and was able to use few words at 20 months. A neuropsychological evaluation showed moderate cognitive impairment. With the presence of overgrowth, facial asymmetry, macroglossia, AUY-922 mouse hemihyperplasia, organomegaly, and hyperinsulinism, B3GAT3 a clinical diagnosis of BWS was made. By the age of 13 years, the patient rapidly developed a mass of the left breast, which was surgically removed. Pathology exam performed on the removed breast mass showed signs of giant juvenile fibroadenoma including two lesions of 67?mm?��?50?mm and 58?mm?��?46?mm. Eight months later, she was admitted to our department for a relapse of the left breast tumor. Upon physical exam, she presented with a non-tender, unilateral, giant mass of the left breast, which was mobile over the underlying tissues (Fig. 1). No axillary or supraclavicular lymph nodes enlargement was noted. Serum ��-fetoprotein, CA-19.9, CEA, and ��-HCG were not increased. Breast ultrasound showed multiple well-defined masses, the largest measuring find more 76?mm?��?26?mm. Bone scintigraphy failed to detect areas of abnormal captation. A left breast reduction was carried out using a free nipple graft technique, removing 3,000?g of tissue. Pathology exam of the tumor showed epithelial ductal hyperplasia and stromal fibrosis without a formed capsula, but there were no signs of malignancy. The pathology findings were consistent with virginal mammary hypertrophy (Fig. 2). In normal and tumor tissues, we analyzed DNA methylation at IC1 and IC2 by combined bisulfite restriction analyzes (COBRA), as described [Chiesa et al., 2012], and found that methylation of both imprinting centers was normal. We analyzed exons and intron/exon junctions of CDKN1C gene by PCR amplification and sequencing but no mutations were detected. The proposita was also evaluated by standard chromosome analysis, which was normal and later by 44K oligonucleotide array-CGH that did not detect any pathogenic copy number variants. Further investigations with a SNP array performed by CytoScan HD array (Affymetrix, Santa Clara, CA) ruled out the presence of smaller (
