Background: The Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive multiple congenital anomaly/mental retardation syndrome caused by a defect in cholesterol synthesis. Affected individuals have dysmorphism, short stature, failure to thrive, microcephaly, multiple congenital malformations, and mental retardation. Diagnostic biochemical features include low plasma cholesterol levels and elevated levels of cholesterol precursors, including 7-dehydrocholesterol (7DHC).
Aims: The aim of this study is to report a case of SLOS with hypercortisolism and hypothyroidism.
Settings and design: This is a case report from the genetic and metabolic unit of a tertiary care teaching hospital in north India.
Methods and material: A 5-month-old male child presented with progressively increasing weight since birth. On examination, he had cyanosis, facial dysmorphism, obesity, bilateral cryptorchidism, hypospadias, inverted nipples, and systolic murmur over the left parasternal area. Investigations revealed a decreased serum cholesterol and elevated 7DHC. His serum cortisol and adrenocorticotropic hormone levels were elevated, and there was suppression of cortisol after the high-dose dexamethasone test. Magnetic resonance imaging of the brain and the pituitary region was normal. The thyroid-stimulating hormone was also elevated. Echocardiography revealed a double-outlet right ventricle with ventricular septal defect and pulmonary stenosis.
Conclusions: SLOS is an inborn error of cholesterol synthesis associated with failure to thrive and malformations involving almost all the systems of the body. The occurrence of hypercortisolism, hypothyroidism, obesity, and complex cyanotic cardiac lesion in association with SLOS has not been described earlier.