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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CASE PRESENTATION
The patient, who was born by Cesarean section at full
term in June 2012, who was the second child of a fourth
pregnancy, is described. The child did not immediately cry,
was resuscitated, weighed 2770 g, length 47 cm, Apgar
score 3/6, amniotic fluid was green. After birth multiple
abnormalities were observed, postnatal retardation in response
(to severe mental retardation), hexadactyly of the
right foot, accessory finger on the fifth finger of the left
hand, syndactyly II∕III of both feet, palatoschisis, microcephaly,
micrognathism, broad nasal bridge and base, short
nasal root, anteverted nares, complete atrioventricular
septal defect, weakened to disappearing swelling reflex,
right renal agenesis, central hypothyroidism. The limiting
abduction of both hips (Figures 1 and 2). The cranial
ultrasound verified narrowed lateral ventricles, corpus callosum
attenuated, interhemispherical suture was narrower.
Sucking reflex was not developed. The pregnancy was not
monitored, and in pregnancy the mother smoked cigarettes.
Mother was blood type O, Rh positive.
There were no significant pathological events in the
family history. Slow progression in weight, nasogastric
probe was placed at birth and percutaneous endoscopic
gastrostomy (PEG) was inserted at 3.5 years of age. At
the age of 4 years and 10 months, the body weight of the
patient was recorded as being 8750 g. At 6 years of age,
her body weight was recorded as being 9450 g. The magnetic
resonance imaging (MRI) finding on the right frontal
and occipital part in the area of the border zone, showed
narrowed sulcuses with the expanded cortical border, on
the left supraventricular hypointense focal point. An atrio-ventricular septal defect (AVSD) repair was completed at
the age of three [ventricular septal defect (VSD) suture plus
Gore-Tex Patch]. Kidney scintigraphy verified function of
the left kidney was 92.5%, and of right 7.49%. Human All
Exon Kit (50MbV5; Agilent Technologies, Santa Clara,
CA, USA) and then sequenced on HiSeq2500 (Illumina
Inc., San Diego, CA, USA), averaging more than 153-layer
coverage as 100 bp “pairs and reads.” Less than 97.0% of
the target sequences were at least 20-fold covered.
When analyzing the assumed autosomal recessive
inheritance, in the second step, genetic variants were
searched. Exome analysis showed two variants in exon
6 of the DHCR7 gene: missense variant NM_001360.2:
c.470T>C (p.Leu157Pro) and nonsense variant c.452G>A
(W151*) in a compound heterozygous state (variation
in DHCR7 gene deficiency of DHCR7. Therefore, the
DHCR7 genotype of the patient is NM_001360.2: c.[470
T>C; c.452G>A] (https://www.ncbi.nlm.nih.gov/clinvar/).
Exogenous DNA fragments were enriched by Sure
Select (Agilent Technologies). Psychomotor development
was slowed, with cerebral cramps from the 8 months, with
episodes of generalized tonic-clonic attack (initially combination
of phenobarbitone and levetiracetam in therapy,
now only levetiracetam suspension 100 mg 2 × 1.3 mL
in therapy) with a quadriplegic spastic form at the lower
extremities. Patient in therapy has vitamin D3 500 IU per
day, omeprazole 10 mg per day, levothyroxine 12.5 mcg per
day and cholesterol supplementation through emulsion for
infusion. Laboratory findings in August 2018 were as follows:
AST 113.0 IU/L, ALT 125.0 IU/L, LDH 218.0 IU/L,
total cholesterol 4.3 mmol/L, total triglycerides 1.2 mmol/L.
The patient has a risk of the gastrointestinal, respiratory
and urinary tract infections, together with large number
of past infection and performed prophylaxis. Patient
aged 6 years has global developmental retardation with
missing contact gaze and lacking motor development for
her age and with peripheral spastic-enhanced muscle tone,
and is under the supervision of children’s neurologists,
gastroenterologists, nephrologists and cardiologists.
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