Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

Sotiria D Mastroyianni; Anastasia Garoufi; Konstantinos Voudris; Angeliki Skardoutsou; Constantinos J Stefanidis; Efstathia Katsarou; Rebecca Gooding; Luba Kalaydjieva

doi:10.1007/s00431-006-0307-9

Congenital cataracts facial dysmorphism neuropathy (CCFDN) syndrome: a rare cause of parainfectious rhabdomyolysis

Eur J Pediatr. 2007 Jul;166(7):747-9. doi: 10.1007/s00431-006-0307-9. Epub 2006 Dec 30.

Authors

Sotiria D Mastroyianni¹, Anastasia Garoufi, Konstantinos Voudris, Angeliki Skardoutsou, Constantinos J Stefanidis, Efstathia Katsarou, Rebecca Gooding, Luba Kalaydjieva

Affiliation

¹ Department of Neurology, P & A Kyriakou Children's Hospital, Thivon and Levadeias str, 115 27 Athens, Greece. [email protected]

PMID: 17195938
DOI: 10.1007/s00431-006-0307-9

Abstract

Congenital cataracts-facial dysmorphism-neuropathy syndrome (CCFDN, MIM: 604168), is a recently delineated neurogenetic disease causing recurrent episodes of rhabdomyolysis; prevention and early diagnosis of rhabdomyolysis should be part of the clinical management of the disease.

Publication types

Case Reports

MeSH terms

Cataract / congenital*
Cataract / genetics
Child, Preschool
Clubfoot / genetics
Developmental Disabilities / genetics
Facial Nerve Diseases / congenital*
Facial Nerve Diseases / genetics
Humans
Male
Muscle Hypotonia / congenital
Muscle Hypotonia / genetics
Paresis / congenital
Paresis / genetics
Reflex, Abnormal / genetics
Rhabdomyolysis / genetics*
Syndrome