First cardiac manifestation of hypotonia-cystinuria syndrome.
Metab Brain Dis
; 33(4): 1375-1379, 2018 08.
Article
in En
| MEDLINE
| ID: mdl-29627929
ABSTRACT
Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic presentation. We report a two-year-six-month-old affected female infant and her five-month-old affected brother with a novel homozygous deletion in SLC3A1 and PREPL gene. Both of siblings had mild facial dysmorphism, hypotonia, feeding problems, failure to thrive, developmental delay. She also had dilated cardiomyopathy which differ from other reported patients. Therefore cardiomyopathy may also be considered one of the features of hypotonia-cystinuria syndrome. With this case report, we present cardiac manifestation of hypotonia-cystinuria syndrome for the first time. Because of two siblings had hyperechogenic bowel in prenatal sonography, it might be a prenatal marker for HCS.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Cardiomyopathy, Dilated
/
Craniofacial Abnormalities
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Cystinuria
/
Mitochondrial Diseases
/
Intellectual Disability
/
Muscle Hypotonia
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
Language:
En
Journal:
Metab Brain Dis
Journal subject:
CEREBRO
/
METABOLISMO
Year:
2018
Document type:
Article
Affiliation country:
Turkey