title: Orthopedic Manifestations of Type I Camurati-Engelmann Disease.
abstract: 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.
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.; Department of Traumatology and Orthopedics, Children Traumatology and Orthopedics, Neurosurgery and Children Neurosurgery, ashkent Pediatric Medical Institute, Tashkent, Uzbekistan.
authors.forename: Alisher J
authors.initials: AJ
authors.lastname: Yuldashev
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Chang Ho
authors.initials: CH
authors.lastname: Shin
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Yong Sung
authors.initials: YS
authors.lastname: Kim
authors.affiliation: Department of Orthopedic Surgery, Korea University Anam Hospital, Seoul, Korea.
authors.forename: Woo Young
authors.initials: WY
authors.lastname: Jang
authors.affiliation: Department of Orthopedic Surgery, Seoul National University Bundang Hospital, Seongnam, Korea.
authors.forename: Moon Seok
authors.initials: MS
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Jong Hee
authors.initials: JH
authors.lastname: Chae
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Won Joon
authors.initials: WJ
authors.lastname: Yoo
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: In Ho
authors.initials: IH
authors.lastname: Choi
authors.affiliation: Department of Radiology, Woorisoa Children's Hospital, Seoul, Korea.
authors.forename: Ok Hwa
authors.initials: OH
authors.lastname: Kim
authors.affiliation: Division of Pediatric Orthopedics, Seoul National University Children's Hospital, Seoul, Korea.
authors.forename: Tae-Joon
authors.initials: TJ
authors.lastname: Cho
mesh_terms: D000293:Adolescent; D000328:Adult; D000700:Analgesics / Q000627:therapeutic use; D003966:Camurati-Engelmann Syndrome / Q000150:complications* / Q000000981:diagnostic imaging* / Q000235:genetics / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D005684:Gait; D005820:Genetic Testing; D006801:Humans; D008297:Male; D008875:Middle Aged; D051346:Mobility Limitation; D059352:Musculoskeletal Pain / Q000188:drug therapy / Q000209:etiology*; D010147:Pain Measurement; D012189:Retrospective Studies; D012720:Severity of Illness Index; D000072799:Stair Climbing; D053773:Transforming Growth Factor beta1 / Q000235:genetics; D055815:Young Adult
chemical_list: D000700:Analgesics; C508960:TGFB1 protein, human; D053773:Transforming Growth Factor beta1
keywords: Camurati-Engelmann syndrome; Phenotype; Transforming growth factor beta 1