First cardiac manifestation of hypotonia-cystinuria syndrome
Metabolic Brain Disease, cilt.33, sa.4, ss.1375-1379, 2018 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 33 Sayı: 4
- Basım Tarihi: 2018
- Doi Numarası: 10.1007/s11011-018-0226-2
- Dergi Adı: Metabolic Brain Disease
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
- Sayfa Sayıları: ss.1375-1379
- Anahtar Kelimeler: SLC3A1, PREPL, Hypotonia-cystinuria syndrome, Developmental delay, Growth failure, Non-compaction
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.