Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation

Tohru Okanishi; Yoshiaki Saito; Isao Yuasa; Mazumi Miura; Ikuo Nagata; Yoshihiro Maegaki; Kousaku Ohno

doi:10.1016/j.ejpn.2007.08.006

Cutis laxa with frontoparietal cortical malformation: a novel type of congenital disorder of glycosylation

Eur J Paediatr Neurol. 2008 May;12(3):262-5. doi: 10.1016/j.ejpn.2007.08.006. Epub 2008 Jan 9.

Authors

Tohru Okanishi¹, Yoshiaki Saito, Isao Yuasa, Mazumi Miura, Ikuo Nagata, Yoshihiro Maegaki, Kousaku Ohno

Affiliation

¹ Division of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, 36-1 Nishi-cho, Yonago 683-8504, Japan. oknsokns@grape.med.tottori-u.ac.jp

PMID: 18187349
DOI: 10.1016/j.ejpn.2007.08.006

Abstract

This report describes a female infant with cutis laxa, short stature, microcephaly, wide anterior fontanel and bifrontal cortical malformation. Isoelectrofocusing of plasma transferrin and apolipoprotein C-III showed abnormal patterns suggesting defective N- and O-glycosylation. Together with recently reported patients, this patient represents a novel type of congenital disorder of glycosylation.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / blood
Abnormalities, Multiple / pathology
Abnormalities, Multiple / physiopathology*
Apolipoprotein C-III / blood
Carbohydrate Metabolism, Inborn Errors / blood
Carbohydrate Metabolism, Inborn Errors / pathology
Carbohydrate Metabolism, Inborn Errors / physiopathology*
Cerebral Cortex / abnormalities*
Cutis Laxa / congenital*
Female
Glycosylation
Humans
Infant, Newborn
Isoelectric Focusing
Magnetic Resonance Imaging
Transferrin / analysis

Substances

Apolipoprotein C-III
Transferrin