Magnetic Resonance Imaging, Magnetic Resonance Spectroscopy, and Facial Dysmorphism in a Case of Lowe Syndrome With Novel OCRL1 Gene Mutation

Yuksel A. , Karaca E. , Albayram M. S.

JOURNAL OF CHILD NEUROLOGY, cilt.24, sa.1, ss.93-96, 2009 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 24 Konu: 1
  • Basım Tarihi: 2009
  • Doi Numarası: 10.1177/0883073808321047
  • Sayfa Sayıları: ss.93-96


Lowe syndrome is a multisystem disorder characterized by anomalies of the eye, the nervous system, and the kidney. It is all uncommon, X-linked disease. Bilateral cataract and severe hypotonia are present at birth, Psychomotor retardation is evident in childhood, while renal complications arise in adolescence. The mutation of the gene OCRL1 localized at Xq26.1 is responsible for the disease. The authors report on a 12-year-old male with mental retardation, facial dysmorphism as prominent forehead, long and slender-shaped race, prominent eyebrows, epicanthus, microphthalmia, low-posterior set ears with prominent helix and antihelix, long philtrum, and mild prognathia. Fie also had history of neonatal hypotonia and congenital cataracts. His cranial magnetic resonance imaging showed increased signal intensity in white matter on T2-weighted images, and magnetic resonance spectroscopy revealed elevation of the myoinositol peak at 3.56 ppm. Molecular analysis of OCRL1 gene revealed novel N574K mutation on 17th exon.