Borlandelli E.

Brusi V.

Ciaffi J.

Mancarella L.

Meliconi R.

Ursini F.

Archivio istituzionale della ricerca - Alma Mater Studiorum Università di Bologna

Sclerochoroidal calcifications associated with early-onset calcium pyrophosphate deposition disease

Ciaffi, Jacopo

Borlandelli, Elena

Mancarella, Luana

Brusi, Veronica

Meliconi, Riccardo

Ursini, Francesco

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CLINICAL IMAGESclerochoroidal calcifications associated with early-onset calciumpyrophosphate deposition diseaseJacopo Ciaffi1 & Elena Borlandelli2 & Luana Mancarella1 & Veronica Brusi1 & Riccardo Meliconi1,3 & Francesco Ursini1,3Received: 11 April 2020 /Revised: 30 April 2020 /Accepted: 1 May 2020# International League of Associations for Rheumatology (ILAR) 2020PresentationA 40-year-old woman with calcium pyrophosphate depositiondisease (CPPD) presented to the emergency department withintense migraine and vomiting. Computed tomography of theheadwas negative but bilateral calcifications of the globe werenoted (Fig. 1a, b). Ophthalmologic examination with fundos-copy and optical coherence tomography confirmed the pres-ence of multiple bilateral subretinal yellow-white lesions con-sistent with sclerochoroidal calcium pyrophosphate deposits.No eye treatment was needed and leflunomide, colchicine,and prednisone for CPPD were continued.The patient was diagnosed with early-onset CPPD at theage of 26 on the basis of synovial fluid analysis from the kneejoint revealing rhomboid-shaped calcium pyrophosphate crys-tals with weakly positive birefringence under compensatedpolarized light microscopy. During follow-up, x-rays ofdifferent sites showed intra-articular calcifications (Fig. 1c),and knee arthroscopy demonstrated white-clustered crystaldeposits (Fig. 1d). The patient had normal renal function,and we ruled out Bartter syndrome, Gitelman syndrome, sar-coidosis, and disorders of calcium and phosphate metabolism.DNA sequence analysis excluded a mutation of the ANKHgene.DiscussionAlthough retinal calcium deposits have rarely been describedin young patients with chondrocalcinosis [1], a relationshipbetween CPPD and sclerochoroidal calcifications has beensuggested in literature [2], and our findings corroborate thispossible association.* Jacopo Ciaffijacopo.ciaffi91@gmail.comElena Borlandellielenaborlandelli@libero.itLuana Mancarellaluana.mancarella@ior.itVeronica Brusiveronica.brusi@ior.itRiccardo Meliconiriccardo.meliconi@ior.itFrancesco Ursinifrancesco.ursini2@unibo.it1 Medicine & Rheumatology Unit, IRCCS Istituto Ortopedico Rizzoli(IOR), via Pupilli 1, 40136 Bologna, Italy2 Radiology Unit, Department of Experimental, Diagnostic andSpeciality Medicine, Sant’Orsola Hospital, University of Bologna,Bologna, Italy3 Department of Biomedical and Neuromotor Sciences (DIBINEM),Section of Rheumatology, University of Bologna, Bologna, ItalyClinical Rheumatologyhttps://doi.org/10.1007/s10067-020-05148-7Compliance with ethical standardsDisclosures None.References1. Boutboul S, Bourcier T, Heligon JP, Houiller P, UllernM, AbitbolM,Borderie V, Laroche L (2004) Familial pseudotumoralsclerochoroidal calcification associated with chondrocalcinosis. BrJ Ophthalmol 88(8):1094–1095. https://doi.org/10.1136/bjo.2003.0399252. Shields JA, Shields CL (2002) CME review: sclerochoroidal calcifi-cation: the 2001 Harold Gifford Lecture. Retina. 22(3):251–261.https://doi.org/10.1097/00006982-200206000-00001Publisher’s note Springer Nature remains neutral with regard to jurisdic-tional claims in published maps and institutional affiliations.Fig. 1 a, b computedtomography of the head showingbilateral calcifications of theglobe; c x-ray showing acetabularlabrum chondrocalcinosis; d ar-throscopic demonstration ofchondrocalcinosisClin Rheumatol

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Sclerochoroidal calcifications associated with early-onset calcium pyrophosphate deposition disease

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