No abstract available.
Camurati-Engelmann Syndrome*

No abstract available.
Camurati-Engelmann Syndrome*

Camurati-Engelmann disease (CED) is an autosomal dominant progressive diaphyseal dysplasia caused by mutations in the transforming growth factor-beta1 (TGFB1) gene. We report the first Korean family with an affected mother and son who were diagnosed with CED. The proband is a 19-yr-old male with a history of abnormal gait since the age of 2. He also suffered from proximal muscle weakness, pain in the extremities, and easy fatigability. Skeletal radiographs of the long bones revealed cortical, periosteal, and endosteal thickenings, predominantly affecting the diaphyses of the upper and lower extremities. No other bony abnormalities were noted in the skull and spine and no remarkable findings were seen on laboratory tests. The patient's mother had a long-standing history of mild limb pain. Under the impression of CED on radiographic studies, we performed mutation analysis. A heterozygous G to A transition at cDNA position +653 in exon 4 of the TGFB1 gene (R218H) was detected in the patient and his mother.
Adult ; Amino Acid Substitution ; Camurati-Engelmann Syndrome/*diagnosis/radiography ; DNA Mutational Analysis ; Diaphyses/radiography ; Heterozygote ; Humans ; Korea ; Male ; Muscle Weakness/radiography ; Pedigree ; Transforming Growth Factor beta1/*genetics

A 24 year-old female presented for a (99m)Tc-methylene diphosphonatae (MDP) whole body bone scan due to chronic pain in the bilateral lower extremities that has aggravated since 2002. She was diagnosed with Camurati-Engelmann disease (CED) based on the clinical and radiological findings in 2002, and she re-visited our institute to evaluate disease status at this time. CED is a rare autosomal dominant type of bone dysplasia characterized by progressive cortical thickening of long bones, and narrowing of medullary cavity, and thus presents with typical clinical symptoms and signs such as chronic pain in the extremities, muscle weakness, and waddling gait. On the (99m)Tc-MDP bone scan performed to evaluate disease status, intense increased uptake was seen in the skull, facial bones, bilateral scapulae, bilateral long bones, and bilateral pelvic bones, which clearly demonstrated the extent of CED involvement.
Bone Diseases, Developmental ; Camurati-Engelmann Syndrome ; Chronic Pain ; Extremities ; Facial Bones ; Female ; Gait ; Humans ; Lower Extremity ; Muscle Weakness ; Pelvic Bones ; Scapula ; Skull

OBJECTIVETo identify the mutation in transforming growth factor-beta1 gene (TGF beta1) in a Chinese patient with Camurati-Engelmann disease(CED).

METHODSDenaturing high-performance liquid chromatography (DHPLC) analysis was performed on the whole seven coding exons and exon-intron boundaries, then the mutation was identified by direct sequencing.

RESULTSMutation screening of TGF beta1 in this patient revealed a heterozygous missense mutation R218H in exon 4.

CONCLUSIONThe identification of the mutation could provide essential data for subsequent therapy and genetic counseling.

Base Sequence ; Camurati-Engelmann Syndrome ; genetics ; China ; Chromatography, High Pressure Liquid ; DNA Mutational Analysis ; Humans ; Male ; Mutation ; Polymerase Chain Reaction ; Transforming Growth Factor beta1 ; genetics ; Young Adult

BACKGROUND: Camurati-Engelmann disease (CED) is a rare genetic skeletal disorder characterized by limb pain, muscle emaciation and weakness, and cortical thickening of the diaphysis of long bones. It is caused by mutations in the transforming growth factor beta 1 (TGFB1) (type I) or other unknown gene(s) (type II). We present 8 consecutive patients with type I CED. METHODS: We retrospectively reviewed medical records and radiographs of type I CED patients with special reference to the mode of presentation, process of diagnostic work-up, and disease course. They were 4 sporadic patients, and two pairs of mother and son. RESULTS: We categorized the mode of presentation into three groups. Group I had 4 patients who mainly presented with motor disturbances in young age. They drew medical attention for waddling gait, awkward ambulation or running, difficulty in going upstairs, or a positive Gower's sign at age 4 to 6 years. Subsequent development of limb pain and radiographic abnormality led to the diagnosis of CED at age 6 to 29 years. Group II had 3 patients who mainly presented with limb pain at age 15, 20, and 54 years, respectively. Radiographic evaluation and molecular genetic test led to the diagnosis of CED. The remaining 1 patient (group III) was asymptomatic until age 9 years when bony lesions at the tibiae were found incidentally. For the last 10 years, he intermittently complained of leg pain in the morning or after sports activities, which did not interfere with daily life. All the patients in group I showed a body mass index in the underweight range (< 18.4 kg/m²). At the latest follow-up, 4 patients in groups I and II required medication for the limb pain. CONCLUSIONS: CED presents with a wide range of severity. Awareness of this rare disease entity may be the key to timely correct diagnosis. This disease entity should be considered in the differential diagnosis of limb pain or motor disturbance in children to avoid unnecessary diagnostic work-up.
Body Mass Index ; Camurati-Engelmann Syndrome* ; Child ; Diagnosis ; Diagnosis, Differential ; Diaphyses ; Emaciation ; Extremities ; Follow-Up Studies ; Gait ; Humans ; Leg ; Medical Records ; Molecular Biology ; Mothers ; Myalgia ; Orthopedics* ; Phenotype ; Rare Diseases ; Retrospective Studies ; Running ; Sports ; Thinness ; Tibia ; Transforming Growth Factor beta ; Walking