A girl with Peters plus syndrome associated with myelomeningocele and chronic renal failure

• Published in: Clinical and experimental nephrology Vol. 14; no. 4; pp. 381 - 384
• Main Authors: Motoyama, Osamu, Arai, Hiroko, Harada, Ryoko, Hasegawa, Kei, Iitaka, Kikuo
• Format: Journal Article
• Language: English
• Published: Japan Springer Japan 01.08.2010; Springer Nature B.V
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - therapy; Case Report; Child; Child, Preschool; Developmental Disabilities - complications; Eye Abnormalities - complications; Eye Abnormalities - diagnosis; Eye Abnormalities - therapy; Female; Growth Disorders - complications; Humans; Infant; Infant, Newborn; Kidney Failure, Chronic - diagnosis; Kidney Failure, Chronic - etiology; Kidney Failure, Chronic - therapy; Magnetic Resonance Imaging; Maxillofacial Abnormalities - complications; Medicine; Medicine & Public Health; Meningomyelocele - complications; Meningomyelocele - diagnosis; Meningomyelocele - therapy; Multicystic Dysplastic Kidney - complications; Multicystic Dysplastic Kidney - diagnosis; Multicystic Dysplastic Kidney - therapy; Nephrology; Syndrome; Urology; Spina bifida; Myelomeningocele; Peters plus syndrome; Sclerocornea; Chronic renal failure; Corneal staphyloma
• ISSN: 1342-1751; 1437-7799
• DOI: 10.1007/s10157-010-0283-2

A girl was born with sclerocornea of the right eye, corneal staphyloma of the left eye and lumbar myelomeningocele. The myelomeningocele was repaired soon after birth. The corneal staphyloma was perforated during infancy. She received keratoplasty and achieved light perception. Her right kidney revealed multicystic dysplasia and was non-functioning at birth. She had neurogenic bladder, and her renal function deteriorated gradually. Peters plus syndrome was diagnosed based on anterior ocular segment anomalies, short stature, developmental delay and characteristic face. Anterior ocular segment anomalies are rare findings, but seem to be occasionally associated with spina bifida and renal anomalies. Myelomeningocele and chronic renal failure in patients with Peters plus syndrome have not been reported to our knowledge.