Neonatal Presentation of Rhizomelic Chondrodysplasia Punctata: Spot Diagnosis and Myriads of Unmet Needs
DOI:
https://doi.org/10.18502/dmj.v8i2.18997Keywords:
chondrodysplasia punctata, rhizomelic, contracture, cataract, infant, newbornAbstract
Background: Rhizomelic chondrodysplasia punctata (RCDP) is an uncommon inborn error of metabolism related to peroxisome. The inheritance pattern of this problem is autosomal recessive in nature. Five genetic subtypes have been reported which are clinically indistinguishable. Majority of cases have arthrogryposis, cataract, and significant growth and neurodevelopmental impairments. Diagnosis is made by observing skeletal changes, cataract, and biochemical changes of peroxisomal dysfunction, including raised phytanic acid and reduced red cell plasmalogen level, and is confirmed by genetic analysis. The mainstay of treatment is supportive measures.
Case Report: We present a term male neonate born with cataract and bilateral contracture at hip, knee, elbow, and wrist. Skeletal radiographs suggested shortening of proximal long bones of the limbs (both humerus and femur) as compared to distal long bones (suggesting rhizomelia) and asymmetric multiple punctate calcifications in epiphyseal regions of femur and humerus.
Conclusion: A multidisciplinary approach including neonatology/pediatrics, pediatric neurology, ophthalmology, physical and occupational therapy, cardiology, and pediatric orthopedic services would bring about optimal results for the infant and the family. The use of genetic epidemiological approaches to compute the struggles of individuals affected with this disorder will help in understanding their unmet medical needs, improving diagnostic support, and furthering therapeutic development efforts.
References
[1] Waterham HR, Ferdinandusse S, Wanders RJ. Human disorders of peroxisome metabolism and biogenesis. Biochim Biophys Acta (BBA) - Mol Cell Res. 2016 May;1863(5):922–933. https://doi.org/10.1016/j.bbamcr.2015.11.015 DOI: https://doi.org/10.1016/j.bbamcr.2015.11.015
[2] Waterham HR, Ebberink MS. Genetics and molecular basis of human peroxisome biogenesis disorders. Biochim Biophys Acta. 2012 Sep;1822(9):1430–1441. https://doi.org/10.1016/j.bbadis.2012.04.006 PMID:22871920 DOI: https://doi.org/10.1016/j.bbadis.2012.04.006
[3] White AL, Modaff P, Holland-Morris F, Pauli RM. Natural history of rhizomelic chondrodysplasia punctata. Am J Med Genet A. 2003 May;118A(4):332–342. https://doi.org/10.1002/ajmg.a.20009 PMID:12687664 DOI: https://doi.org/10.1002/ajmg.a.20009
[4] Luisman T, Smith T, Ritchie S, Malone KE. Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 2021 Jul;16(1):300. https://doi.org/10.1186/s13023-021-01889-z PMID:34229749 DOI: https://doi.org/10.1186/s13023-021-01889-z
[5] Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia punctata. Orphanet J Rare Dis. 2013 Oct;8(1):174. https://doi.org/10.1186/1750-1172-8- 174 PMID:24172221 DOI: https://doi.org/10.1186/1750-1172-8-174
[6] Fallatah W, Schouten M, Yergeau C, Di Pietro E, Engelen M, Waterham HR, et al. Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata. J Inherit Metab Dis. 2021 Jul;44(4):1021–1038. https://doi.org/10.1002/jimd.12349PMID:33337545 DOI: https://doi.org/10.1002/jimd.12349
[7] Duker AL, Niiler T, Kinderman D, Schouten M, Poll-The BT, Braverman N, et al. Rhizomelic chondrodysplasia punctata morbidity and mortality, an update. Am J Med Genet A. 2020 Mar;182(3):579–583. https://doi.org/10.1002/ajmg.a.61413 PMID:31769196 DOI: https://doi.org/10.1002/ajmg.a.61413
[8] Braverman NE, Steinberg SJ, Fallatah W, Duker A, Bober MB. Rhizomelic chondrodysplasia punctata type 1. GeneReviews. 2001 Nov. PMID:20301447
[9] Javaid HA, Fawzy NA, Mostafa R, Shehata N. A Case of rhizomelic chondrodysplasia punctata in a neonate. Cureus. 2022 Nov;14(11):e31702. https://doi.org/10.7759/cureus.31702 PMID:36561594 DOI: https://doi.org/10.7759/cureus.31702
[10] Jessy JP, Kumar R, Rani N, Kapoor K, Sharma M, Kaur A, et al. An overview of clinical manifestations in chondrodysplasia punctata. J Morphol Sci. 2023;40:533-535.
[11] Darakci SM, Yılmaz ST, Kavak MÖ. Neonatal type 1 rhizomelic chondrodysplasia punctata with a homozygous PEX7 mutation and inguinal hernia. Pediatr Acad Case Rep. 2024;3(1):001-004. DOI: https://doi.org/10.61107/pacr.2024.048
[12] Gerami R, Barkhordari S. Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. J Ultrasound. 2023 Jun;26(2):539–542. https://doi.org/10.1007/s40477-022-00737-5 PMID:36315400 DOI: https://doi.org/10.1007/s40477-022-00737-5
[13] Di Meglio A, Manzo L. Rhizomelic dwarfism. In: Di Meglio A, editor. Prenatal diagnosis of fetal osteopathologies. Cham: Springer; 2024. https://doi.org/10.1007/978-3-031-39347-1_12. DOI: https://doi.org/10.1007/978-3-031-39347-1
[14] Tinnion RJ, Davidson N, Moran P, Wright M, Harigopal S. Rhizomelic chondrodysplasia punctata: A classic ‘spot’diagnosis. Case Rep. 2011 Jun 20;2011:bcr0120113747. https://doi.org/10.1136/bcr.01.2011.3747 DOI: https://doi.org/10.1136/bcr.01.2011.3747
[15] Tan AP, Gonçalves FG, Almehdar A, Soares BP. Clinical and neuroimaging spectrum of peroxisomal disorders. Top Magn Reson Imaging. 2018 Aug;27(4):241–257. https://doi.org/10.1097/RMR. 0000000000000172 PMID:30086110 DOI: https://doi.org/10.1097/RMR.0000000000000172
Published
How to Cite
Issue
Section
License
Copyright (c) 2025 Amarendra Prasad, Chanchal Kumar, Dhiraj Sidagonda Shedabale, Mohammad Shahbaz Alam, Suvas Chand, Ayesha Romana
This work is licensed under a Creative Commons Attribution 4.0 International License.
