YASEMİN YUMUŞAKHUYLU, AFİTAP İÇAĞASIOĞLU, Erkan MESCİ, Ali İhsan SUNGUR

Gecikmiş Bir Rehabilitasyon Olgusu: Rizomelik Kondrodisplazi Punktata Tip 3

Rizozomal kondrodisplazi punktata (RKDP) lipid biyosentezi için gerekli olan peroksizomal genlerdeki mutasyonlar sonucu gelişen bir hastalıktır. Etkilenen hastalarda proksimal olarak kısa ekstremiteler, epifizyal punktat kalsifikasyon, bilateral katarakt, büyüme ve gelişme geriliği karakteristiktir. Hastaların büyük çoğunluğu RKDP tip 1, %5 civarı ise tip 2 veya 3 tür. Bu makalede RKDP tip 3 tanılı, rehabilitasyonu ihmal edilmiş 9 yaşındaki erkek çocuğu sunduk. Makalemizde, yapılan küçük bir rehabilitatif girişimin kişinin fonksiyonelliğine çok fazla katkıda bulunduğunu göstererek rehabilitasyonun önemini vurgulamak istedik.

A Delayed Rehabilitation Case: Rhizomelic Chondrodysplasia Punctata Type 3

Rhizomelic chondrodysplasia punctata (RCDP) is a disorder resulting from mutations in peroxisomal genes essential for lipid biosynthesis. Affected patients have characteristic features like proximally shortened limbs, epiphyseal punctuate calcification, bilateral cataracts, growth and developmental delays. The majority of patients have RCDP type 1, around 5% have RCDP type 2 or 3. In this paper we report a case of 9 years old male child diagnosed as RCDP type 3 whose rehabilitation was ignored. We would like to emphasize the importance of rehabilitation which even a slight intervention of rehabilitation can contribute a lot to his functionality.

PDF

___

Bams-Mengerink AM, Koelman JH, Waterham H, Barth PG, Poll-The BT. The neurology of rhizomelic chondrodysplasia Punctata. Orphanet J Rare Dis 2013;8:174.
Braverman N, Steel G, Obie C, Moser A, Moser H, Gould SJ, Valle D. Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata. Nat Genet ;15:369-76.
Irving MD, Chitty LS, Mansour S, Hall CM. Chondrodysplasia punctata: A clinical diagnostic and radiological review. Clin Dysmorphol 2008;17:229-41.
Shanske AL, Bernstein L, Herzog R. Chondrodysplasia punctata and maternal autoimmune disease: a new case and review of the literature. Pediatrics 2007;120:436-41.
Moser A, Moser H, Kreiter N, Raymond G. Life expectancy in rhizomelic chondrodysplasia punctata. Am J Hum Genet 1996;59:99.
Yalin CT, Bayrak IK, Danaci M, Incesu L. Case report:rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn. Diagn Interv Radiol 2003;9:100-103.
Alessandri JL, Ramful D, Cuillier F. Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency. Clin Dysmorphol 2010;19:85-7.
Poznanski AK. Punctate epiphyses: a radiological sign not a disease. Pediatr Radiol 1994;24:418-24.
Braverman NE, Moser AB, Steinberg SJ. Rhizomelic Chondrodysplasia Punctata Type 1. In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. Gene Reviews [internet]. Seattle (WA): University of Washington, Seattle;1993-2001.
Wardinsky TD, Pagon RA, Powell BR, McGillivray B, Stephan M, Zonana J,et al. Rhizomelic chondrodysplasia punctata and survival beyond one year: A review of the literature and five case reports. Clin Genet 1990;38(2):84-93.
Chhavi N, Prashanth S, Venkatesh C, Karthikeyan K. Rhizomelic chondrodysplasia punctata: A missed opportunity for early diagnosis. Indian J Hum Genet 2012;18:344-5
Roy A, De P, Chakraborty S. Rhizomelic chondrodysplasia punctata with maternal systemic lupus erythromatosus. Indian Pediatr 2013;50:605-7
Violas P, Fraisse B, Chapuis M, Bracq H. Cervical spine stenosis in chondrodysplasia punctata. J Pediatr Orthop B 2007;16:443-5.
Khanna J, Braverman NE, Valle D, Sponseller PD. Cervical stenosis secondary to rhizomelic chondrodysplasia punctata: brief clinical report. Am J Med Genet 2001;99:63-66.
Berker N. Rehabilitation and physiotherapy. In: Berker N, Yalçın S, editors.The help guide to cerebral palsy. 1st ed. Istanbul, Turkey. Global help publication; 2005: 38-47.