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Camurati-Engelmann Disease in a Family from Croatian Island: An Old Bone Scan Confirmed Pattern of Inheritance
Maja Baretić
; University of Zagreb, University Hospital Centre Zagreb, Division of Endocrinology, Department of Internal medicine, Zagreb, Croatia
Mirko Koršić
; University of Zagreb, University Hospital Centre Zagreb, Division of Endocrinology, Department of Internal medicine, Zagreb, Croatia
Kristina Potočki
; University of Zagreb, University Hospital Center Zagreb, Department of Diagnostic and Interventional Radiology, Zagreb, Croatia
Gordana Herceg Horvatić
; University of Zagreb, University Hospital Center Zagreb, Department of Nuclear Medicine and Radiation Protection, Zagreb, Croatia
Željka Crnčević Orlić
; University of Rijeka, University Hospital Centre Rijeka, Department of Endocrinology, Diabetes and Metabolic Diseases, Rijeka, Croatia
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.
Keywords
Engelmann-Camurati disease; hereditary disease; progressive diaphyseal dysplasia; bone scintigraphy; bone radiograms
Hrčak ID:
127627
URI
Publication date:
30.6.2014.
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