Case Report: Corneal Leucoma as a Novel Clinical Presentation of Nail-Patella Syndrome in a 5-Year-Old Girl
| Autor: | Yubin Wu, Yue Du, Ling Hou, Chengguang Zhao, Yue Zeng |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2021 |
| Předmět: |
0301 basic medicine
medicine.medical_specialty Oculocerebrorenal syndrome Case Report 030105 genetics & heredity congenital corneal leucoma Pediatrics RJ1-570 missense variation 03 medical and health sciences steroid-resistant nephrotic syndrome medicine Nail patella syndrome Iliac horns business.industry medicine.disease Dermatology Steroid-resistant nephrotic syndrome 030104 developmental biology medicine.anatomical_structure Dysplasia nail-patella syndrome Pediatrics Perinatology and Child Health Nail (anatomy) Differential diagnosis business Nephrotic syndrome LMX1B |
| Zdroj: | Frontiers in Pediatrics, Vol 9 (2021) Frontiers in Pediatrics |
| ISSN: | 2296-2360 |
| Popis: | Nail-patella syndrome (NPS) is a rare autosomal-dominant disorder characterized by the classic tetrad of absent or hypoplastic finger and toe nails, absent or hypoplastic patella, skeletal deformities involving the elbow joints, and iliac horns. This disease is caused by heterozygous pathogenic variations in the LMX1B gene, which encodes the LIM homeodomain transcription factor protein (LMX1B). We report a case of corneal leucoma and dysplasia prior to overt steroid-resistant nephrotic syndrome (SRNS) in a patient with NPS. At presentation, the parents of a 5-year-old female patient reported their daughter had corneal leucoma, psychomotor delay and speech defect. We also noted the presence of bilateral edema of the lower extremities, hypertension, nail dystrophy, and the bilateral absence of patella. She developed steroid-resistant nephrotic syndrome. Lowe oculocerebrorenal syndrome and NPS were the conditions considered in differential diagnosis. Trio-based whole genome sequencing indicated a heterozygous de novo likely pathogenic variation in the LMX1B gene (c.805A>C [p.Asn269His]). Patients with NPS often develop nail, ocular, or orthopedic symptoms prior to nephrotic syndrome. Corneal leucoma may be a novel clinical presentation of NPS. |
| Databáze: | OpenAIRE |
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