Mr Ahmed Showki Arnob*, Dr Sayma Parvin Mitu
Kettering General Hospital, United Kingdom Ex-Delta Medical College, Bangladesh
Posters & Accepted Abstracts: J Univer Surg
Smith Lemli Opitz syndrome [aka SLOS] is a genetic disorder, which can be manifested by a number of physical characteristics, primarily this is a disorder of cholesterol metabolism1. This disease process has a broad spectrum of phenotype from a mild manifestation to life-threatening syndrome2. In this syndrome, cholesterol level is decreased and dehydrocholesterol level is increased due to mutations of 7-dehydrocholesterol reductase [7DHCR]2. Although cholesterol level doesn’t act as an indicator of this disease, diagnosis can be confi rmed by fi nding elevated 7DHCR, in plasma or tissues2. Combination of low cholesterol and high 7DHC suggests a block in cholesterol biosynthesis route3.Physical and clinical manifestation of SLOS can range from growth retardation, developmental delay, microcephaly, cleft palate, syndactyly of the 2nd and 3rd toes, dry skin to systemic defects such as atrial/ ventricular septal defects, patent ductus arteriosus, hypertension, constipation, pyloric stenosis, malrotation, hypospadias, cryptorchidism, hypotonia, autism etc.2 Figure: Flowchart to diagnose SLOS2 In a surgical context, patients presenting with ambiguous genitalia, Hirshprung’s disease and pyloric stenosis, may trigger screening of SLOS, leading to diagnosis5. Cholesterol supplements are the mainstay of treatment. However, they can treat brain defects as cholesterol cant cross blood-brain barrier [BBB]2. Simvastatin therapy shows more promises2. Prenatal diagnosis is possible by either amniotic fl uid or chorionic villus sampling
Mr Ahmed Showki Arnob is a Senior House Offi cer in Kettering General Hospital, Kettering, Northamptonshire, United Kingdom. Dr Sayma Parvin Mitu is an ex-lecturer in Department of Biochemistry in Delta Medical College, Bangladesh
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