MORFAN Syndrome: An Infantile Hypoinsulinemic Hypoketotic Hypoglycemia Due to an AKT2 Mutation

Garg N., Bademci G., Foster J., ŞIKLAR Z., BERBEROĞLU M., Tekin M.

JOURNAL OF PEDIATRICS, cilt.167, sa.2, ss.489-491, 2015 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 167 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1016/j.jpeds.2015.04.069
  • Dergi Adı: JOURNAL OF PEDIATRICS
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.489-491
  • Ankara Üniversitesi Adresli: Evet

Özet

We report a child with hypoinsulinemic hypoglycemia and distinctive facies, with a diagnosis of the previously described MORFAN (Mental retardation, pre-and post-natal Overgrowth, Remarkable Face, and Acanthosis Nigricans) syndrome of unknown etiology. Whole-exome sequencing revealed a de novo AKT2 mutation. Although AKT2 has been implicated in four patients with hypoinsulinemic hypoglycemia, our report expands phenotypic spectrum to include MORFAN syndrome characteristics.