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Severe Smith-Lemli-Opitz syndrome with prolonged survival and lipid abnormalities
G Pierquin1, P Peeters, F Roels
1Centre de Génétique-ULB, Hôpital Erasme, Brussels, Belgium.
Insights
A girl with severe Smith-Lemli-Opitz Syndrome (SLOS) survived until age 7, presenting with multiple congenital anomalies and severe hypocholesterolemia. Diagnosis was confirmed by fibroblast 7-dehydrocholesterol assay.
Area of Science:
- Biochemistry
- Genetics
- Pediatrics
Background:
- Smith-Lemli-Opitz Syndrome (SLOS) is a rare genetic disorder affecting cholesterol synthesis.
- Typical presentations include developmental delay, distinctive facial features, and congenital anomalies.
Observation:
- A pediatric case presented with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia.
- The patient survived until 7 years of age, which is exceptionally long for severe SLOS.
Findings:
- Differential diagnoses including peroxisomal disorders, mevalonic acidemia, and Marinesco-Sjögren syndrome were excluded.
- The diagnosis of severe SLOS was confirmed by elevated levels of 7-dehydrocholesterol in cultured fibroblasts.
Implications:
- This case highlights the phenotypic variability and potential for extended survival in severe Smith-Lemli-Opitz Syndrome.
- Accurate diagnosis through biochemical assays like 7-dehydrocholesterol measurement is crucial for understanding SLOS prognosis and management.
Abstract:
We have studied a girl with multiple congenital anomalies, growth and mental deficiency, characteristic facial anomalies, cataracts, cerebellar atrophy, and severe hypocholesterolemia. Death occurred at age 7 years. After excluding several syndromes, i.e., peroxisomal disorders, mevalonic acidaemia, and Marinesco-Sjögren syndrome, it is concluded that this girl had severe Smith-Lemli-Opitz Syndrome (SLOS) with exceptionally long survival. This diagnosis was confirmed through assay of 7-dehydrocholesterol in cultured fibroblasts.