TY - JOUR
T1 - Magnetic Resonance Imaging characteristics in case of TOR1AIP1 muscular dystrophy
AU - Undiagnosed Diseases Network (UDN)
AU - Members of the Undiagnosed Diseases Network
AU - Bhatia, Aashim
AU - Mobley, Bret C.
AU - Cogan, Joy
AU - Koziura, Mary E.
AU - Brokamp, Elly
AU - Phillips, John
AU - Newman, John
AU - Moore, Steven A.
AU - Hamid, Rizwan
AU - Acosta, Maria T.
AU - Adams, David R.
AU - Agrawal, Pankaj
AU - Alejandro, Mercedes E.
AU - Allard, Patrick
AU - Alvey, Justin
AU - Andrews, Ashley
AU - Ashley, Euan A.
AU - Azamian, Mahshid S.
AU - Bacino, Carlos A.
AU - Bademci, Guney
AU - Baker, Eva
AU - Balasubramanyam, Ashok
AU - Baldridge, Dustin
AU - Bale, Jim
AU - Barbouth, Deborah
AU - Batzli, Gabriel F.
AU - Bayrak-Toydemir, Pinar
AU - Beggs, Alan H.
AU - Bejerano, Gill
AU - Bellen, Hugo J.
AU - Bernstein, Jonathan A.
AU - Berry, Gerard T.
AU - Bican, Anna
AU - Bick, David P.
AU - Carrasquillo, Olveen
AU - Chang, Ta Chen Peter
AU - Forghani, Irman
AU - Grajewski, Alana
AU - Isasi, Rosario
AU - Lam, Byron
AU - Levitt, Roy
AU - Liu, Xue Zhong
AU - McCauley, Jacob
AU - Sacco, Ralph
AU - Saporta, Mario
AU - Schaechter, Judy
AU - Tekin, Mustafa
AU - Telischi, Fred
AU - Thorson, Willa
AU - Zuchner, Stephan
N1 - Publisher Copyright:
© 2019 Elsevier Inc.
PY - 2019/11/1
Y1 - 2019/11/1
N2 - Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.
AB - Mutations in the torsinA-interacting protein 1 (TOR1AIP1) gene result in a severe muscular dystrophy with minimal literature in the pediatric population. We review a case of TOR1AIP1 gene mutation in a 16-year-old Caucasian female with a long history of muscle weakness. Extensive clinical workup was performed and MRI at time of initial presentation demonstrated no significant muscular atrophy with heterogenous STIR hyperintensity of the lower extremity muscles. MRI findings seven years later included extensive atrophy of the lower extremities, with severe progression, including the gluteal muscles, iliopsoas, rectus femoris, and obturator internus. There was also significant atrophy of the rectus abdominis and internal and external oblique muscles, and iliacus muscles. The MRI findings showed more proximal involvement of lower extremities and no atrophy of the tibialis anterior, making TOR1AIP1 the more likely genetic cause. Muscle biopsy findings supported TOR1AIP1 limb-girdle muscular dystrophy. Though rare, TOR1AIP1 gene mutation occurs in pediatric patients and MRI can aid in diagnosis and help differentiate from other types of muscular dystrophy. Genetic and pathology workup is also crucial to accurate diagnosis and possible treatment of these patients.
KW - MRI
KW - Muscular dystrophy
KW - TorsinA-interacting protein 1 (TOR1AIP1)
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UR - http://www.scopus.com/inward/citedby.url?scp=85068510188&partnerID=8YFLogxK
U2 - 10.1016/j.clinimag.2019.06.010
DO - 10.1016/j.clinimag.2019.06.010
M3 - Article
C2 - 31299614
AN - SCOPUS:85068510188
VL - 58
SP - 108
EP - 113
JO - Clinical Imaging
JF - Clinical Imaging
SN - 0899-7071
ER -