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Vol. 53. Issue 5.
Pages 482-487 (1 November 2000)
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Vol. 53. Issue 5.
Pages 482-487 (1 November 2000)
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Diagnóstico bioquímico del síndrome de Smith-Lemli-Opitz en un paciente con hiperplasia adrenal congénita
Biochemical diagnosis of smith-lemli-opitz syndrome in a patient with congenital adrenal hyperplasia
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E. García-Fuentesa, M.ªI. Vicioso Recioa,*, E. del Castillo Acedo del Olmoa, M.ªD. Matas Juradob, M. Arana Agüerac, J. López Lópezc
a. Servicios de Laboratorio. Hospital Materno-Infantil
b. Hospital Regional Carlos Haya
c. Departamento de Pediatría. Hospital Materno-Infantil. Málaga
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Objetivo

El síndrome de Smith-Lemli-Opitz es una alteración de herencia autosómica recesiva causada por un fallo de la enzima 7-deshidrocolesterol D7-reductasa, produciendo unos bajos valores séricos de colesterol y la acumulación de su precursor, el 7-deshidrocolesterol. Se presenta el caso de un niño de 3 meses de edad con hiperplasia adrenal congénita y con el diagnóstico clínico previo de dicho síndrome. Se pretende confirmar bioquímicamente el diagnóstico clínico del síndrome de Smith-Lemli-Opitz.

Métodos

Se determinó el 7-deshidrocolesterol en suero por espectroscopia ultravioleta (determinación cualitativa) mediante un método rápido y sencillo, recientemente propuesto, y por cromatografía gaseosa (determinación cuantitativa).

Resultados

La determinación por espectroscopia ultravioleta revela la presencia en suero del 7-deshidrocolesterol, confirmada posteriormente por cromatografía gaseosa. Así mismo, el paciente presentaba unas concentraciones muy disminuidas de colesterol total.

Conclusiones

Se expone el caso de un paciente con síndrome de Smith-Lemli-Opitz e hiperplasia adrenal congénita, asociación descrita en muy pocos casos. Los resultados obtenidos indican que el diagnóstico clínico del síndrome de Smith-Lemli-Opitz puede confirmarse bioquímicamente por la medida cualitativa del 7-deshidrocolesterol mediante espectroscopia ultravioleta.

Palabras clave:
Síndrome de Smith-Lemli-Opitz
Colesterol
7-Deshidrocolesterol
Espectroscopia ultravioleta
Hiperplasia adrenal congénita
Background

Smith-Lemli-Opitz syndrome is an autosomal recessive disorder caused by 7-dehydrocholesterol D7-reductase deficiency that leads to serum cholesterol deficiency and accumulation of the cholesterol precursor, 7-dehydrocholesterol. We report a three-month-old boy with congenital adrenal hyperplasia and clinical diagnosis of this syndrome. This study was undertaken to confirm biochemically the clinical diagnosis of Smith-Lemli-Opitz syndrome.

Methods

Serum 7-dehydrocholesterol was determined in serum by ultraviolet spectroscopy (qualitatively) using a recently described simple and rapid method, and by gas chromatography (quantitatively).

Results

The ultraviolet spectroscopy assay detected serum 7-dehydrocholesterol. This result was confirmed by gas chromatography. Furthermore, the patient showed very low total cholesterol.

Conclusions

The association between Smith-Lemli-Opitz syndrome and congenital adrenal hyperplasia has been reported in only a few cases. Our results suggest that clinical diagnosis of Smith-Lemli-Opitz syndrome can be biochemically confirmed by qualitative measurement of 7-dehydrocholesterol using ultraviolet spectroscopy.

Key words:
Smith-Lemli-Opitz syndrome
Cholesterol
7-dehydrocholesterol
Ultraviolet spectroscopy
Congenital adrenal hyperplasia
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Copyright © 2000. Asociación Española de Pediatría
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