RESUMO
Congenital hepatic fibrosis is part of many different malformation syndromes, of which oculo-encephalo-hepato-renal syndrome is the most common. These syndromes largely overlap, and so accurate classification of individual patients may be difficult. We present herein three syndromic siblings who were products of a consanguineous marriage. We investigated in detail at least six organ systems in these patients, namely the liver, brain, eye, kidneys, skeleton, and gonads. The common features observed in these three cases were congenital hepatic fibrosis, retinitis pigmentosa, truncal obesity, rotatory nystagmus, mental retardation, advanced myopia, and high-arched palate. The clinical dysmorphology in these patients was distinct and lacked the major features of the known syndromes associated with congenital hepatic fibrosis. Although some features of these presented cases are similar to those found in Bardet-Biedl syndrome (BBS), the absence of some major criteria of BBS (polydactyly, renal abnormality, and hypogonadism) suggests that this may be a new syndrome. All three patients remain under follow-up in the departments of Gastroenterology, Ophthalmology, and Neurology at Hacettepe University.
RESUMO
Uveal melanoma is the most common primary intraocular malignancy in adults. Several cytogenetic studies on uveal melanoma cells have revealed that the majority of these cells harbor alterations in chromosomes 3, 6, and 8. This report describes the results of cytogenetic analysis performed on a fresh choroidal melanoma tissue sample from a patient with cerebellar metastasis. Monosomy 7 mosaicism was observed. To our knowledge, monosomy 7 has not been reported in patients with uveal melanoma. We suggest that observation of monosomy 7 may be related to an aggressive clinical behavior and unusual cerebellar metastasis in uveal melanoma. Further data are necessary to define the exact role of monosomy 7 in the pathogenesis and evolution of uveal melanoma.