CLINICAL VARIABILITY IN TWO MACEDONIAN FAMILIES
WITH ARTERIAL TORTUOSITY SYNDROME Kocova M, Kacarska R, Kuzevska-Maneva K, Prijic S,
Lazareska M, Dordoni C, Ritelli M, Colombi M *Corresponding Author: Professor Dr. Mirjana Kocova, University Pediatric Clinic, Str Majka Tereza 17, 1000 Skopje,
Republic of Macedonia. Tel: +389-70-242-694. Fax: +389-2-311-1713. E-mail: mirjanakocova@ yahoo.com page: 47 download article in pdf format
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Abstract
Arterial tortuosity syndrome (ATS) is a rare autosomal
recessive disorder caused by mutations in the solute carrier
family 2 member 10 (SLC2A10) gene encoding a glucose/
ascorbic acid transporter. The clinical features of ATS are
mild-to-severe tortuosity of the large and medium arteries
throughout the body, accompanied by dysmorphisms
and joint laxity. Vascular changes in different parts of the
body lead to stenosis and/or aneurysms requiring difficult
surgical procedures. Here we present two new patients
with ATS from two unrelated families. Patient 1 presented
at 10 years of age with headache and typical physical appearance,
delicate skeleton, large visible pulsation of the
carotid arteries in the neck, and joint laxity. On computed
tomography (CT) angiography she had severe tortuosity of
the aortal branches and cerebral arteries, but no significant
tortuosity of the pulmonary arteries. Two cousins of the
girl carried the same homozygous c.254T>C, p.(Leu85Pro)
mutation in SLC2A10, however, they additionally had a
severe involvement of the pulmonary vessels. Patient 2
was a 9-year-old girl diagnosed with severe tortuosity and
stenosis of the pulmonary arteries and progressive myocardiopathy.
Her physical appearance was very similar
to Patient 1, except that she also had growth retardation.
After long-term follow-up by cardiologists, she underwent
cardiac surgery abroad, with an unfavorable outcome.
Homozygosity for the c.685C>T, p.(Arg229*) mutation
in the SLC2A10 gene was detected. Consanguinity was
disclosed within both families. Our findings confirm the
intrafamilial phenotype variability of ATS. A novel finding
is the severe tortuosity of cerebral arteries causing migraine
that has not been described before in a child with ATS.
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