SMITH-LEMLI-OPITZ SYNDROME:
BOSNIAN AND HERZEGOVINIAN EXPERIENCE
Begic N1,*, Begic Z1, Begic E2,3
*Corresponding Author: Nedim Begic, M.D., M.A., Department of Cardiology, Paediatric Clinic,
Clinical Centre University of Sarajevo, Patriotske Lige 81, Sarajevo, Bosnia and Herzegovina. E-mail:
nedim_begic91@hot mail. com
page: 99
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DISCUSSION
Classic craniofacial features of SLOS include microcephaly,
bitemporal narrowing, ptosis, short nasal root,
anteverted nares and micrognathia. In addition, the majority
of patients have 2/3 toes syndactyly [3]. Initially,
two phenotypes of the SLOS were described, the milder
form or type I, and the more severe-form or type II. Following
the characterization of the biochemical defect, it
was found that they are the same disorder [3]. Currently,
over 140 DHCR7 mutations are associated with SLOS
[4]. The severe SLOS phenotype was reported in patients
who were homozygous carriers of the two functional null
alleles NM_001360.2: c.832-1G>C and NM_001360.2:
c.453 G>A (p.Trp151Ter), and for the pathogenic missense
variant NM_004826.4: c.1249C>T (p.Arg404Cys) [2]. A
detailed evaluation of 207 subjects with SLOS showed
that the most severe phenotypes were noticed in subjects
with two null variants or with two variants in loop 8-9,
while those with one or two pathogenic variants in loop
1-2 or one pathogenic variant in the N-terminus, have the
milder phenotypes [5].
Diagnosis and treatment of SLOS patients require a
long-lasting and multidisciplinary approach. There is currently
no consensus on optimal therapy for individuals with
SLOS, partly because of the rare and still poorly studied
nature of the condition. However, based on the underlying
biochemistry and empirical data, cholesterol supplementation
is the usual treatment, but with limited benefits
due to the inability of cholesterol to cross the blood-brain barrier. Moreover, supplemental antioxidants, fat-soluble
vitamins and coenzyme Q10 are given to these patients [6].
Statins, pharmacological inhibitors of enzyme 3-hydroxy-
3-methylglutaryl coenzyme A (HMG-CoA) reductase, are
potentially promising candidates for therapy of SLOS, but
data are still insufficient. Some of the articles describe that
an early liver transplant might be the treatment option in
order to prevent neurological deterioration [7]. Additional
investigations to better understand the range of cognitive
function in SLOS and the factors that modify the clinical
phenotype are necessary [8].
Conclusions. It would be useful to consider characterization
of SLOS genotypes during the prenatal stage
based on the prevalence in certain populations. Future
treatment of genetic diseases is gene therapy, but for most
patients it is still far from every day clinical practice.
Declaration of Patient Consent. The authors certify
that they obtained a signed patient consent form. In the
form, the patient’s parents gave consent for images and
other clinical information on the patient to be reported in
the Journal. They understand that the patient’s name and
initials would not be published and every effort will be
made to conceal her identity, but anonymity cannot be
guaranteed.
Acknowledgments. Part of this case report was
presented at the 87th European Atherosclerosis Society
Congress, held at Maastricht, The Netherlands, on 26 May
2020.
Declaration of Interest. The authors report no conflicts
of interest. The authors alone are responsible for the
content and writing of this article.
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