Smith Lemli Opitz Syndrome type II of neonatal diagnosis and review of the most interesting clinical features

• Published in: Revista de neurologiá Vol. 34; no. 10; pp. 946 - 950
• Main Authors: Ramírez-Gómara, A, Castejón-Ponce, E, Martínez-Martínez, M, García-Bodega, O, Rite-Gracia, S, Segura- Arazuri, D, López-Pisón, J, Baldellou-Vázquez, A, Marco-Tello, A, López-López, A, Rebage-Moisés, V
• Format: Journal Article
• Language: Spanish
• Published: Spain 16-05-2002
• Subjects: Cholesterol - metabolism; Fetal Growth Retardation; Humans; Infant, Newborn; Male; Phenotype; Smith-Lemli-Opitz Syndrome - diagnosis; Smith-Lemli-Opitz Syndrome - genetics; Smith-Lemli-Opitz Syndrome - metabolism
• DOI: 10.33588/rn.3410.2001476
• ISSN: 0210-0010

Smith Lemli Opitz syndrome is an autosomal recessive metabolic disease, two forms can be differentiated: type I and type II.
We present the clinical case of a female newborn with antecedents of oligoamnios and intrauterine growth retardation who presented a characteristic malformative syndrome, severe neurological impairment, anomalies of the limbs, pyloric stenosis, and renal and cardiac defects. Determination of cholesterol and its precursors by gas chromatography confirmed the clinical diagnosis of a severe form with exitus at six months of age. At the same time a review of the syndrome is presented.