Abstract
Peroxisomal diseases are a group of monogenic disorders that include defects in peroxisome biogenesis or enzyme deficiencies[1]. Rhizomelic chondrodysplasia punctata (RCDP) belongs to peroxisome biogenesis disorder caused by autosomal recessive mutation on PEX7 gene, encoding PTS2 receptor[2]. It is characterized by rhizomelia, ichthyosis, seizure, repeated infection, congenital cataract & joint contractures[1]. Radiological features include epiphyseal stippling, coronal clefts in vertebral bodies. Here we are reporting a case of RCDP in an infant because of its rarity.
Keywords: Peroxisome, Rhizomelia, Autosomal recessive, cataract, contracture.
References
- Weller S, Gould S. J, Valle D. (2003). “Peroxisome Biogenesis Disorders” Annual Review of Genomics and Human Genetics. 4:165–211. doi: 10.1146/annurev.genom.4.070802.110424. PMID14527301. [PubMed] [Google Scholar]
- Moser A, Moser H, Kreiter N, Raymond G. Life expectancy in rhizomelic chondrodysplasia punctata. Am J Hum Genet 1996; 59: 99.
- Braverman NE, Moser AB, Steinberg SJ. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews [Internet]. University of Washington, Seattle; 2001 Nov 16. Accessed on 8 April, 2013.
- Available from: http://www.ncbi.nlm.nih.gov/books/ NBK1270/
- Irving M. D, Chitty L. S, Mansour S, Hall C. M. “Chondrodysplasia punctata: a clinical diagnostic and radiological review,” Clinical Dysmorphology. 2008; 17(4):229–241. View at Publisher-View at Google Scholar-View at Scopus. [PubMed] [Google Scholar]
- White A. L, Modaff P, Holland-Morris F, Pauli R. M. “Natural history of rhizomelic chondrodysplasia punctata,” American Journal of Medical Genetics. 2003; 118(4):332–342. View at Scopus. [PubMed] [Google Scholar]
- Morrison S. C. “Punctate epiphyses associated with Turner syndrome,” Pediatric Radiology. 1999;29(6):478–480. View at Publisher - View at Google Scholar - View at Scopus. [PubMed] [Google Scholar]
Corresponding Author
Dr Priyadarshani Paik
Junior Resident, Dept of Paediatrics, MKCG Medical College, Berhampur, Odisha
DOI: https://dx.doi.org/10.18535/jmscr/v9i6.40
