Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol

Yifei Yang; Lindsay Yassan; Edward Ki Yun Leung; Kiang Teck J. Yeo

doi:10.1016/j.cca.2018.01.027

Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol

Yifei Yang, Lindsay Yassan, Edward Ki Yun Leung, Kiang Teck J. Yeo

Laboratory Medicine and Pathology

Research output: Contribution to journal › Article › peer-review

Abstract

Background: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies. Case description: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections. Conclusion: We provide a detailed biochemical profile of the SLOS patient. The report can help us further understand the pathological impacts of cholesterol synthesis deficiency and provide relevant clinical management with outcome of this rare genetic disorder.

Original language	English (US)
Pages (from-to)	208-211
Number of pages	4
Journal	Clinica Chimica Acta
Volume	479
DOIs	https://doi.org/10.1016/j.cca.2018.01.027
State	Published - Apr 2018

Keywords

Inborn errors of metabolism
Smith-Lemli-Opitz syndrome
Steroid hormones
Vitamin D synthesis

ASJC Scopus subject areas

Biochemistry
Clinical Biochemistry
Biochemistry, medical

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10.1016/j.cca.2018.01.027

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title = "Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol",

abstract = "Background: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies. Case description: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections. Conclusion: We provide a detailed biochemical profile of the SLOS patient. The report can help us further understand the pathological impacts of cholesterol synthesis deficiency and provide relevant clinical management with outcome of this rare genetic disorder.",

keywords = "Inborn errors of metabolism, Smith-Lemli-Opitz syndrome, Steroid hormones, Vitamin D synthesis",

author = "Yifei Yang and Lindsay Yassan and Leung, {Edward Ki Yun} and Yeo, {Kiang Teck J.}",

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doi = "10.1016/j.cca.2018.01.027",

language = "English (US)",

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T1 - Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol

AU - Yang, Yifei

AU - Yassan, Lindsay

AU - Leung, Edward Ki Yun

AU - Yeo, Kiang Teck J.

PY - 2018/4

Y1 - 2018/4

N2 - Background: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies. Case description: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections. Conclusion: We provide a detailed biochemical profile of the SLOS patient. The report can help us further understand the pathological impacts of cholesterol synthesis deficiency and provide relevant clinical management with outcome of this rare genetic disorder.

AB - Background: Patients with Smith-Lemli-Opitz Syndrome (SLOS) have defective endogenous cholesterol synthesis, and present with decreased cholesterol levels and multiple developmental dysmorphologies. Case description: A newborn infant with normal XY karyotype and normal microarray was born with multiple developmental defects and ambiguous genitalia. The patient was diagnosed with SLOS, following biochemical genetic analysis of serum 7-DHC concentrations. The clinical course of the patient was further complicated by the comorbidities associated with SLOS and the bacterial infections. Conclusion: We provide a detailed biochemical profile of the SLOS patient. The report can help us further understand the pathological impacts of cholesterol synthesis deficiency and provide relevant clinical management with outcome of this rare genetic disorder.

KW - Inborn errors of metabolism

KW - Smith-Lemli-Opitz syndrome

KW - Steroid hormones

KW - Vitamin D synthesis

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Smith-Lemli-Opitz Syndrome in a newborn infant with developmental abnormalities and low endogenous cholesterol

Abstract

Keywords

ASJC Scopus subject areas

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