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

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

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

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 03 May 2024)

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 May 03];38(2):755-758. Available at: https://urn.nsk.hr/urn:nbn:hr:105:216844

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: 03 May 2024]

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
AuthorMaja Baretić
AuthorMirko Koršić
AuthorKristina Potočki
AuthorGordana Herceg Horvatić
AuthorŽeljka Crnčević Orlić
Author's institutionUniversity 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)
Languageenglish
Publication typeScientific paper - Original scientific paper
Publication statusPublished
Peer reviewPeer review
Publication versionPublished version
Journal titleCollegium Antropologicum
Numberingvol. 38, no. 2, pp. 755-758
p-ISSN0350-6134
URN:NBNurn:nbn:hr:105:216844
Publication2014-06
Document URLhttps://hrcak.srce.hr/127627
Type of resourceText
Access conditionsOpen access
Terms of useLicence In copyright icon
Created on2024-03-28 08:20:02