Metabolic Brain Disease

, Volume 33, Issue 4, pp 1375–1379 | Cite as

First cardiac manifestation of hypotonia-cystinuria syndrome

  • Mustafa Kılıç
  • Ahmet Cevdet Ceylan
  • Utku Arman Örün
  • Esra Kılıç
Short Communication


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.


SLC3A1 PREPL Hypotonia-cystinuria syndrome Developmental delay Growth failure Non-compaction 



We thank the family for cooperation.

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.


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Copyright information

© Springer Science+Business Media, LLC, part of Springer Nature 2018

Authors and Affiliations

  • Mustafa Kılıç
    • 1
  • Ahmet Cevdet Ceylan
    • 2
  • Utku Arman Örün
    • 3
  • Esra Kılıç
    • 4
  1. 1.Sami Ulus Children Hospital, Metabolism UnitAnkaraTurkey
  2. 2.Atatürk Training and Research Hospital, Department of GeneticsYıldırım Beyazıt UniversityAnkaraTurkey
  3. 3.Pediatric Cardiology UnitSami Ulus Children HospitalAnkaraTurkey
  4. 4.Pediatric Hematology-Oncology Training and Research HospitalAnkaraTurkey

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