Clinical and imaging findings of systemic hyalinosis: two cases presenting with congenital arthrogryposis.
Systemic hyalinosis is a rare, multisystem, progressive, autosomal recessive disorder of connective tissue characterized by diffuse hyaline deposition in the skin, bone or viscera. Owing to its rarity and initial manifestations that resemble arthrogryposis congenital multiplexa, correct diagnosis can be elusive and often delayed. We present the computed tomography (CT) and whole-body (WB) magnetic resonance (MR) findings in two unrelated children with systemic hyalinosis who came to medical attention because of multiple joint contractures and limitation of motion in early infancy.
Yoo
So-Young
SY
Department of Radiology, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Kim
Ji Hye
JH
Kang
Ho Seok
HS
Hwang
Yong Seung
YS
Kim
Ki Joong
KJ
Kim
In-One
IO
Cheon
Jung-Eun
JE
Shin
Su-Mi
SM
Kim
Chong Jai
CJ
Lee
Jee Hun
JH
Lee
Mun Hyang
MH
Chae
Jong Hee
JH
D001176:Arthrogryposis / Q000150:complications* / Q000175:diagnosis*; D003937:Diagnosis, Differential; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D007223:Infant; D008297:Male; D014057:Tomography, X-Ray Computed