Tc-99m MDP Bone SPECT/CT Findings of a Patient Detected with a New Mutation in LEMD3 Gene: A Case of Osteopoikilosis

Abstract

Osteopoikilosis is an inherited condition with autosomal dominant trait resulting in sclerotic foci throughout the skeleton. It has been suggested that loss-of-function mutations of LEMD3 gene located on 12q14.3 result in osetopoikilosis. A bp heterozygote deletion was detected in our patient at the cytosine nucleotide at position 1105 with molecular genetic analysis. Although this mutation has not been previously described, it was considered to be the most likely cause of the disease in our patient due to frame shift and premature stop codon formation. As in our case, three phase bone scintigraphy and whole body imaging did not reflect the true extent of lesion sites and lesion activity. SPECT/CT images could reflect lesion location and activity more accurately, and could be a good alternative for differential diagnosis of unexplained bone pain and sclerotic lesions in one examination.

Modeling-based bone formation transforms trabeculae to cortical bone in the sclerotic areas in Buschke-Ollendorff syndrome. A case study of two females with LEMD3 variants

“…PET-CT scans revealed mottled looking skeletons, somewhat similar to the sclerotic skeletal lesions observed on 99m Tc-99m MDP SPECT/CT scans of BOS patients [29]. NaF is a sensitive and specific marker of on-going active micro-calcification [30].…”

A Rare Cause of Polyarthralgia : Osteopoikilosis

“…In addition; asymmetry, variation in size, axial skeleton involvement, osseous destruction and periostal reaction diff erentiates osteoblastic metastases from OPK. 7 In the study of Carpintero et al which included ten OPK patients, four patients complained of abdominal and/or urological symptoms and had undergone abdominal radiography, three had injuries, two complained of joint pain (accompanied in one case by eff usion in the knee), and the tenth patient was referred because her brother had been diagnosed elsewhere as having OPK. In same study three patients had associated bone disorders (two displayed osteopathia striata and the other exostosis of the anterior aspect of the ankle, together with bone condensation consistent with melorheostosis).…”