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[Smith-Lemli-Opitz syndrome--case report, diagnostics and therapeutic options]
A Oberthür1, R Heller, M Vogel
1Klinik und Poliklinik für Kinderheilkunde, Universität zu Köln, Pädiatrische Intensivstation, Köln. andre.oberthuer@uk-koeln.de
Zeitschrift Fur Geburtshilfe Und Neonatologie
|October 27, 2009
Summary
Smith-Lemli-Opitz syndrome (SLOS), a genetic disorder affecting cholesterol synthesis, presents with growth and mental retardation. This case highlights the challenges in treating SLOS, even with cholesterol supplementation and statins.
Area of Science:
- Biochemistry
- Genetics
- Developmental Biology
Background:
- Smith-Lemli-Opitz syndrome (SLOS) is an autosomal-recessive disorder impacting cholesterol biosynthesis due to mutations in the 7-dehydrocholesterol reductase (DHCR7) gene.
- This genetic defect leads to cholesterol deficiency and accumulation of toxic precursors, causing a spectrum of developmental abnormalities.
Observation:
- A female infant presented with intrauterine growth restriction and typical SLOS dysmorphic features, including cardiovascular defects and syndactyly.
- The patient exhibited characteristic biochemical markers of SLOS upon diagnosis.
Findings:
- Despite therapeutic intervention with oral cholesterol and simvastatin, the patient succumbed to the disease at 12 weeks of age.
- This case underscores the severe prognosis and limited therapeutic efficacy of current strategies for SLOS.
Implications:
- Further research is crucial to develop more effective treatments for SLOS, focusing on early diagnosis and intervention.
- Understanding the complex pathophysiology of cholesterol metabolism disorders is vital for improving patient outcomes in SLOS.
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