Bannayan-Riley-Ruvalcaba syndrome with deforming lipomatous hamartomas in\ninfant - Case report
We describe the case of a nine-month-old male child, who had fast growing and\nprogressive lesions on the trunk and abdomen since the age of 6 months. A previous\nevaluation by a pediatrician diagnosed first degree malnutrition and absence of\npsychomotor development deficit. At the examination, the child was thinner, presented\nmacrocephaly, voluminous abdomen with multiple masses of soft consistency, affecting\nalso the back and thorax, the larger of the lesions being located on his right flank\n(). He also presented brownish, round\nmacules on the penis, measuring around three millimeters in diameter ().\nGeneral physical examinations included lipid profile, without any alterations.\nComputerized tomography of the abdomen and pelvis revealed extensive lipomatosis in the\nright postero-lateral thorax-abdomen region at the T8 level, extending downward until\nthe perineal region with signs of controlateral paraspinal muscle invasion starting at\nT12. Lesional infiltration of vertebral, retrodural and psoas muscle epidural regions of\nthe spinal canal could also be bilaterally observed (). Magnetic resonance of the thoracic column revealed lipomatous\ndorsal lesion associated with enlargement of the spinal canal and spinal cord\ncompression in the low thoracic column, as well as nonenhanced lumbosacral medullary\ncompression after contrast.\nThe child underwent surgery for partial removal of the larger lesion, thus avoiding\nprogression of medullary compression and functional deficit; examination of the sample\nconfirmed the lipoma diagnosis (). After\nthe surgery, growth of the other lesions was observed, although without functional\ndeficit (). In order to detect chromosomal\nalterations in the adipocytic lesion, DNA was extracted, followed by CGH array. Loss of\napproximately 1MB of the long arm of chromosome 10, the region where the PTEN gene is\nlocated, was revealed. The same alteration was confirmed in the peripheral blood of the\npatient.\nThe authors present this case because of its exuberance and rarity. The child should be\nfollowed for early detection of intestinal polyps and possible neoplasms.