COEXISTENCE OF TWO RARE DISORDERS GALACTOSEMIA AND SITUS INVERSUS TOTALIS: A CASE REPORT


Demir I., BULUT F. D. , Orhan Z., Kilavuz S., ALINÇ ERDEM S. , Balli T., ...Daha Fazla

JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI, cilt.83, ss.168-171, 2020 (ESCI İndekslerine Giren Dergi) identifier

  • Cilt numarası: 83 Konu: 2
  • Basım Tarihi: 2020
  • Doi Numarası: 10.26650/iuitfd.2019.0061
  • Dergi Adı: JOURNAL OF ISTANBUL FACULTY OF MEDICINE-ISTANBUL TIP FAKULTESI DERGISI
  • Sayfa Sayıları: ss.168-171

Özet

Galactosemia is a rare autosomal recessively inherited disease of the carbohydrate metabolism. The most common subtype is the galactose-1-phosphate-uridyl transferase deficiency that leads to classical galactosemia. Situs inversus totalis is another rare congenital condition which defines the heterotopy of thoracic and abdominal organs. Although our patient was diagnosed with galactosemia in the neonatal period, situs inversus totalis could not be recognized until the age of 10 years. An association between these two rare and unrelated congenital conditions has not been reported before. We want to present this interesting case and emphasize the importance of a detailed physical examination.