open access
Retinoblastoma and prune belly syndrome: the first described association in literature
, 2, 2, 1, 1, 2, 3
Affiliations- Ophthalmology Department, King Hussein Cancer Center, Amman, Jordan
- Ophthalmology Department, Medical University of Lublin, Lublin, Poland
- Shami Eye Center, Amman, Jordan
open access
Abstract
Background: Retinoblastoma is the most common primary intraocular tumor in children. Prune belly syndrome
is a rare congenital disease affecting newborns. The combination of the two diseases has never been reported before.
In this article, we present a case of a male infant diagnosed with prune belly syndrome (PBS) at birth.
Case report: Patient underwent many surgeries to manage the resulting consequences of PBS. At the age of 7
months, he presented with left eye leukocoria. He was examined and diagnosed with retinoblastoma. The eye was
enucleated, and the diagnosis was confirmed histopathologically. This is the first case to be described in the literature
of such an association to the best of our knowledge.
Key words: prune belly syndrome; retinoblastoma; Eagle-Barrett syndrome
Abstract
Background: Retinoblastoma is the most common primary intraocular tumor in children. Prune belly syndrome
is a rare congenital disease affecting newborns. The combination of the two diseases has never been reported before.
In this article, we present a case of a male infant diagnosed with prune belly syndrome (PBS) at birth.
Case report: Patient underwent many surgeries to manage the resulting consequences of PBS. At the age of 7
months, he presented with left eye leukocoria. He was examined and diagnosed with retinoblastoma. The eye was
enucleated, and the diagnosis was confirmed histopathologically. This is the first case to be described in the literature
of such an association to the best of our knowledge.
Key words: prune belly syndrome; retinoblastoma; Eagle-Barrett syndrome
Keywords
prune belly syndrome; retinoblastoma; Eagle-Barrett syndrome
About this articleTitle
Retinoblastoma and prune belly syndrome: the first described association in literature
Journal
Issue
Vol 5 (2020): Continuous Publishing
Article type
Case report
Pages
143-145
Published online
2020-12-28
Page views
483
Article views/downloads
478
DOI
Bibliographic record
Ophthalmol J 2020;5:143-145.
Keywords
prune belly syndrome
retinoblastoma
Eagle-Barrett syndrome
Authors
Rafat Turki
Ibrahim Alnawaiseh
Ewa Jasińska
Agata Pietras-Baczewska
Mustafa Mehyar
Yacoub A. Yousef
Robert Rejdak
Rashed Mustafa Nazzal
References (15)- Shields JA. Intraocular tumors — a text and atlas. WB Saunders Company, Philadelphia 1992.
- Hanahan D, Weinberg R. The Hallmarks of Cancer. Cell. 2000; 100(1): 57–70.
- Seidel NE, Arlen AM, Smith EA, et al. Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population. Urology. 2015; 85(1): 211–215.
- Eagle JF, Barrett GS. Congenital deficiency of abdominal musculature with associated genitourinary abnormalities: A syndrome. Report of 9 cases. Pediatrics. 1950; 6(5): 721–736.
- Granberg CF, Harrison SM, Dajusta D, et al. Genetic basis of prune belly syndrome: screening for HNF1β gene. J Urol. 2012; 187(1): 272–278.
- Diao B, Diallo Y, Fall PA, et al. [Prune Belly syndrome: epidemiologic, clinic and therapeutic aspects]. Prog Urol. 2008; 18(7): 470–474.
- Zugor V, Schott GE, Labanaris AP. The Prune Belly syndrome: urological aspects and long-term outcomes of a rare disease. Pediatr Rep. 2012; 4(2): e20.
- Hillman RT, Garabedian MJ, Wallerstein RJ. Pregnancy outcome in a woman with prune belly syndrome. BMJ Case Rep. 2012; 2012.
- Sutherland RS, Mevorach RA, Kogan BA. The prune-belly syndrome: current insights. Pediatr Nephrol. 1995; 9(6): 770–778.
- Grimsby GM, Harrison SM, Granberg CF, et al. Impact and frequency of extra-genitourinary manifestations of prune belly syndrome. J Pediatr Urol. 2015; 11(5): 280.e1–280.e6.
- Murray PJ, Thomas K, Mulgrew CJ, et al. Whole gene deletion of the hepatocyte nuclear factor-1beta gene in a patient with the prune-belly syndrome. Nephrol Dial Transplant. 2008; 23(7): 2412–2415.
- Woods AG, Brandon DH. Prune belly syndrome. A focused physical assessment. Adv Neonatal Care. 2007; 7(3): 132–43; quiz 144.
- Brodsky MC, Turan KE, Khanna CL, et al. Congenital mydriasis and prune belly syndrome in a child with an ACTA2 mutation. J AAPOS. 2014; 18(4): 393–395.
- Shorey P, Lobo G. Ocular anomalies in abdominal muscle deficiency syndrome. Am J Ophthalmol. 1989; 108(2): 193–195.
- Grace E, Drennan J, Colver D, et al. The 13q- deletion syndrome. J Med Genet. 1971; 8(3): 351–357.