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Smith-Lemli-Opitz syndrome: biochemical before clinical diagnosis; early dietary management
N A Nwokoro1, B Hyde, J J Mulvihill
1Department of Human Genetics, University of Pittsburgh, PA 15261.
Insights
Smith-Lemli-Opitz syndrome, a rare metabolic disorder, was diagnosed in an infant presenting with multiple congenital anomalies. Elevated 7-dehydrocholesterol levels confirmed the diagnosis, and a high cholesterol diet showed potential for developmental improvement.
Area of Science:
- Biochemistry
- Genetics
- Developmental Biology
Background:
- Investigating the metabolic underpinnings of congenital anomalies is crucial for early diagnosis and intervention.
- Smith-Lemli-Opitz syndrome (SLOS) is a rare autosomal recessive metabolic disorder caused by a defect in cholesterol biosynthesis.
Observation:
- A newborn girl presented with an unrecognized pattern of multiple congenital anomalies.
- Initial investigations focused on a potential metabolic etiology for the observed anomalies.
Findings:
- Elevated plasma 7-dehydrocholesterol (7-DHC) levels were detected at 8 months of age.
- The clinical presentation and biochemical data led to a definitive diagnosis of Smith-Lemli-Opitz syndrome at 11 months.
- A significant elevation in 7-DHC is a hallmark biochemical finding in SLOS.
Implications:
- Early diagnosis of SLOS enables timely management and support.
- Dietary interventions, such as a high cholesterol diet, may positively influence developmental outcomes in SLOS patients.
- Understanding the metabolic basis of congenital anomalies aids in developing targeted therapies.
Abstract:
Pursuit of a possible metabolic basis for an unrecognized pattern of multiple congenital anomalies in a newborn girl led to the detection of a huge elevation of plasma 7-dehydrocholesterol at age 8 months. The biochemical findings and the evolving clinical picture led to the diagnosis of Smith-Lemli-Opitz syndrome at age 11 months. High cholesterol diet may have improved the rate of developmental progress.