Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance [Camurati-Englemannova bolest u obitelji s Hrvatskog otoka: stara snimka kostiju potvrdila je obrazac nasljeđivanja]

Baretić, Maja and Koršić, Mirko and Potočki, Kristina and Herceg Horvatić, Gordana and Crnčević Orlić, Željka (2014) Camurati-Engelmann disease in a family from Croatian Island: an old bone scan confirmed pattern of inheritance [Camurati-Englemannova bolest u obitelji s Hrvatskog otoka: stara snimka kostiju potvrdila je obrazac nasljeđivanja]. Collegium Antropologicum, 38 (2). pp. 755-758. ISSN 0350-6134

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Abstract

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 in 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.

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