Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ciliopathy associ...Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ciliopathy associated with various clinical features, including HSCR. This review article aims to explore the underlying causes of HSCR in children with BBS, focusing on the genetic and developmental factors contributing to the pathogenesis of both conditions. We reviewed relevant literature, including peer-reviewed journal articles and case reports, to provide a comprehensive overview of the current understanding of the relationship between HSCR and BBS. Our findings highlight the complex interplay of genetic mutations, signaling pathways, and developmental processes involved in the pathogenesis of HSCR in BBS. Further research is needed to elucidate the precise mechanisms underlying this association and to develop targeted therapeutic strategies for children with HSCR and BBS.展开更多
Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is r...Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the component of this syndrome in very young children. A 3-year old very obese male presented with clinical features of sepsis and congestive cardiac failure. He is a product of non-consanguineous marriage with unremarkable family history. Both parents are of the Ibo tribe in Nigeria. Polydactyly was noticed at birth. There was delay in some aspects of his developmental milestone. Examination revealed mild hypertelorism and retrognathia, polydactyly of both feet with syndactyly of the big and second toes. Other findings were short broad hands, mottled pigments on the retina, moderate mental retardation, hypogenitalism, nephrotic syndrome, renal tubulopathy, hyperglycaemia and hypopigmented skin lesions. A case of BBS with all the primary features and some secondary manifestations in a very young child is hereby reported. A high index of suspicion for BBS should be shown in any young child with at least one of the features of this syndrome. This will enhance earlier diagnosis and improve disease outcome.展开更多
文摘Hirschsprung’s disease (HSCR) is a developmental disorder characterized by the absence of ganglion cells in the distal colon, leading to functional obstruction. Bardet-Biedl syndrome (BBS) is a rare ciliopathy associated with various clinical features, including HSCR. This review article aims to explore the underlying causes of HSCR in children with BBS, focusing on the genetic and developmental factors contributing to the pathogenesis of both conditions. We reviewed relevant literature, including peer-reviewed journal articles and case reports, to provide a comprehensive overview of the current understanding of the relationship between HSCR and BBS. Our findings highlight the complex interplay of genetic mutations, signaling pathways, and developmental processes involved in the pathogenesis of HSCR in BBS. Further research is needed to elucidate the precise mechanisms underlying this association and to develop targeted therapeutic strategies for children with HSCR and BBS.
文摘Bardet-Biedl Syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by obesity, post-axial polydactyly, renal abnormalities, mental retardation, pigmentary retinopathy and hypogenitalism. Diagnosis is rare in early childhood, and only few of the features are present at that age. This is because the disease is slow evolving. However, it is possible to find majority of the component of this syndrome in very young children. A 3-year old very obese male presented with clinical features of sepsis and congestive cardiac failure. He is a product of non-consanguineous marriage with unremarkable family history. Both parents are of the Ibo tribe in Nigeria. Polydactyly was noticed at birth. There was delay in some aspects of his developmental milestone. Examination revealed mild hypertelorism and retrognathia, polydactyly of both feet with syndactyly of the big and second toes. Other findings were short broad hands, mottled pigments on the retina, moderate mental retardation, hypogenitalism, nephrotic syndrome, renal tubulopathy, hyperglycaemia and hypopigmented skin lesions. A case of BBS with all the primary features and some secondary manifestations in a very young child is hereby reported. A high index of suspicion for BBS should be shown in any young child with at least one of the features of this syndrome. This will enhance earlier diagnosis and improve disease outcome.
