Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance

Baretić, Maja; Koršić, Mirko; Potočki, Kristina; Herceg Horvatić, Gordana; Crnčević Orlić, Željka

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Scientific paper - Original scientific paper

Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance

Collegium Antropologicum, 38 (2014), 2; 755-758. urn:nbn:hr:105:216844

Baretić, Maja; Koršić, Mirko; Potočki, Kristina; Herceg Horvatić, Gordana; Crnčević Orlić, Željka

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APA 6th Edition

Baretić, M., Koršić, M., Potočki, K., Herceg Horvatić, G. & Crnčević Orlić, Ž. (2014). Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance . Collegium Antropologicum, 38. (2), 755-758. Retrieved from https://urn.nsk.hr/urn:nbn:hr:105:216844

MLA 8th Edition

Baretić, Maja, et al. "Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance ." Collegium Antropologicum, vol. 38, no. 2, 2014, pp. 755-758. https://urn.nsk.hr/urn:nbn:hr:105:216844

Chicago 17th Edition

Baretić, Maja, Mirko Koršić, Kristina Potočki, Gordana Herceg Horvatić and Željka Crnčević Orlić. "Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance ." Collegium Antropologicum 38, no. 2 (2014): 755-758. https://urn.nsk.hr/urn:nbn:hr:105:216844

Harvard

Baretić, M., et al. (2014) 'Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance ', Collegium Antropologicum, 38(2), pp. 755-758. Available at: https://urn.nsk.hr/urn:nbn:hr:105:216844 (Accessed 30 November 2024)

Vancouver

Baretić M, Koršić M, Potočki K, Herceg Horvatić G, Crnčević Orlić Ž. Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance . Collegium Antropologicum [Internet]. 2014 June [cited 2024 November 30];38(2):755-758. Available at: https://urn.nsk.hr/urn:nbn:hr:105:216844

IEEE

M. Baretić, M. Koršić, K. Potočki, G. Herceg Horvatić and Ž. Crnčević Orlić, "Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance ", Collegium Antropologicum, vol. 38, no. 2, pp. 755-758, June 2014. [Online]. Available at: https://urn.nsk.hr/urn:nbn:hr:105:216844. [Accessed: 30 November 2024]

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Metadata

Title (english)	Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance
Title (croatian)	Camurati-Englemannova bolest u obitelji s Hrvatskog otoka: stara snimka kostiju potvrdila je obrazac nasljeđivanja
Author	Maja Baretić
Author	Mirko Koršić
Author	Kristina Potočki
Author	Gordana Herceg Horvatić
Author	Željka Crnčević Orlić
Author's institution	University of Zagreb School of Medicine
Scientific / art field, discipline and subdiscipline	BIOMEDICINE AND HEALTHCARE Clinical Medical Sciences
Abstract (english)	34-year old patient had history of muscular wasting, easy fatigability, pain in extremities and waddling gait since age of four. During the time, neuromuscular disease was suspected, but not confirmed. Elevated bone alkaline phosphatase as well as other bone turnover markers (osteocalcin, procollagen, telopeptide) indicated further skeletal evaluation. Symmetrical enhanced uptake on technetium methylene diphosphonate [99mTc]MPD bone scintigraphy at diaphyses of longitudinal bones and scull matched cortical thickening of long bones and sclerosis of the scull seen at radiograms. Those findings pointed to Camurati-Engelmann disease misdiagnosed for the long time. This rare genetic autosomal dominant disorder was retrospectively diagnosed in asymptomatic father too on the basis of bone scans done long time ago. Old family member scans confirmed heredity pattern of the disease.
Abstract (croatian)	34-godišnji bolesnik od svoje četvrte godine u povijesti bolesti navodi mišićnu slabost, učestalo umaranje, bolove u rukama i nogama te gegajući hod. Niz godina obrađivan je zbog sumnje na neuromuskularnu bolest koja nije potvrđena. Povišena koštana alkalna fosfataza, kao i ostali markeri koštane pregradnje (osteokalcin, telopeptid, prokolagen) indicirali su obradu koštanog sustava. Scintigrafija kostiju sa [99mTc]MPD pokazala je simetrično pojačano nakupljanje u dugim kostima i na bazi lubanje što odgovara zadebljanju kortikalisa dugih kostiju i sklerozi baze lubanje prikazane na radiološkim snimkama. Snimke su ukazale na Camurati-Engelmannovu bolest čija je dijagnoza promakla dugo vremena. Radi se o rijetkoj genetskoj autosomno dominantnoj bolesti koja se kasnije dijagnosticirala i kod bolesnikova oca. Stare snimke člana obitelji potvrdile su nasljedni obrazac bolesti.
Keywords (english)
Language	english
Publication type	Scientific paper - Original scientific paper
Publication status	Published
Peer review	Peer review
Publication version	Published version
Journal title	Collegium Antropologicum
Numbering	vol. 38, no. 2, pp. 755-758
p-ISSN	0350-6134
URN:NBN	urn:nbn:hr:105:216844
Publication	2014-06
Document URL	https://hrcak.srce.hr/127627
Type of resource	Text
Access conditions	Open access
Terms of use
Created on	2024-03-28 08:20:02