TY - JOUR
T1 - An Uncommon Presentation of a Primary Bone Tumor
T2 - Anti-AMPA (Anti-α-Amino-3-Hydroxy-5-Methyl-4-Isoxazolepropionic acid) Receptor Limbic/Paraneoplastic Encephalitis as a Presenting Feature of Ewing Sarcoma
AU - Koh, Daniel
AU - Lau, Theodore
AU - Teoh, Evonne
AU - Lau, Kenneth K.
PY - 2018/10
Y1 - 2018/10
N2 - Anti-AMPA (anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptor limbic encephalitis is a rare autoimmune syndrome. It can be associated with an underlying malignancy, such as lung, breast, or thymus. We are reporting a case of a 19-year-old patient who presented with a 2-week history of confusion and short-term memory loss. A magnetic resonance imaging of brain showed increased T2 hyperintensity within the hippocampi bilaterally. Cerebrospinal fluid analysis was positive for anti-AMPA receptor antibodies. A computed tomography revealed multiple pulmonary metastases as well as an expansile lucent and sclerotic lesion in the ilium, which was subsequently biopsied. Histopathology confirmed a diagnosis of Ewing sarcoma (ES). Fluorescence in situ hybridization testing of the specimen identified EWSR1 (22q12.2) signal rearrangements in 80% of cells scored. To date, this is the first case report describing anti-AMPA receptor limbic/paraneoplastic encephalitis as a presenting feature of ES. Although it is rare, the possibility of ES may be considered in young patients presenting with anti-AMPA receptor limbic encephalitis. ©
AB - Anti-AMPA (anti-α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid) receptor limbic encephalitis is a rare autoimmune syndrome. It can be associated with an underlying malignancy, such as lung, breast, or thymus. We are reporting a case of a 19-year-old patient who presented with a 2-week history of confusion and short-term memory loss. A magnetic resonance imaging of brain showed increased T2 hyperintensity within the hippocampi bilaterally. Cerebrospinal fluid analysis was positive for anti-AMPA receptor antibodies. A computed tomography revealed multiple pulmonary metastases as well as an expansile lucent and sclerotic lesion in the ilium, which was subsequently biopsied. Histopathology confirmed a diagnosis of Ewing sarcoma (ES). Fluorescence in situ hybridization testing of the specimen identified EWSR1 (22q12.2) signal rearrangements in 80% of cells scored. To date, this is the first case report describing anti-AMPA receptor limbic/paraneoplastic encephalitis as a presenting feature of ES. Although it is rare, the possibility of ES may be considered in young patients presenting with anti-AMPA receptor limbic encephalitis. ©
KW - anti-AMPA receptor limbic encephalitis
KW - Ewing sarcoma
KW - paraneoplastic
UR - http://www.scopus.com/inward/record.url?scp=85054142745&partnerID=8YFLogxK
U2 - 10.1097/MPH.0000000000001304
DO - 10.1097/MPH.0000000000001304
M3 - Article
C2 - 30247289
AN - SCOPUS:85054142745
VL - 40
SP - 555
EP - 557
JO - Journal of Pediatric Hematology/Oncology
JF - Journal of Pediatric Hematology/Oncology
SN - 1077-4114
IS - 7
ER -