Sign of lynx ears and hereditary spastic paraparesis SPG11
A 21-year-old male presented with slowly progressive gait and balance disorders since he was 17 years of age. His younger brother presented with similar symptoms. The neurologic examination revealed spastic paraparesis, generalized hyperreflexia, bilateral plantar extensor reflex and a moderate cogn...
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Universidad Peruana Cayetano Heredia
2023
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ftupcayetanohere:oai:revistas.upch.edu.pe:article/5150 2024-02-11T10:09:31+01:00 Sign of lynx ears and hereditary spastic paraparesis SPG11 Signo de orejas del lince y paraparesia espástica hereditaria SPG11 Mattos-Castillo, Jair Sarapura-Castro, Elison 2023-12-20 application/pdf https://revistas.upch.edu.pe/index.php/RMH/article/view/5150 https://doi.org/10.20453/rmh.v34i4.5150 spa spa Universidad Peruana Cayetano Heredia https://revistas.upch.edu.pe/index.php/RMH/article/view/5150/5432 https://revistas.upch.edu.pe/index.php/RMH/article/view/5150 doi:10.20453/rmh.v34i4.5150 http://creativecommons.org/licenses/by/4.0 Revista Medica Herediana; Vol 34 No 4 (2023): October - December; 228 Revista Médica Herediana; Vol. 34 Núm. 4 (2023): Octubre-Diciembre; 228 Revista Medica Herediana; v. 34 n. 4 (2023): Outubro - Dezembro; 228 1729-214X 1018-130X info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 2023 ftupcayetanohere https://doi.org/10.20453/rmh.v34i4.5150 2024-01-18T01:35:06Z A 21-year-old male presented with slowly progressive gait and balance disorders since he was 17 years of age. His younger brother presented with similar symptoms. The neurologic examination revealed spastic paraparesis, generalized hyperreflexia, bilateral plantar extensor reflex and a moderate cognitive disorder. The test for HTLV was non-reactive. He had sensitive motor axonal polyneuropathy. Next generation sequencing performed on the patient and his brother found mutations in the SPG11 gene. Brain MRI showed the lynx ears sign and corpus callosum atrophy. This sign correlates with axonal degeneration of the corpus callosum and it is highly specific for hereditary type 11 and 15 spastic paraparesis. The sign (yellow arrows) is hypointense in T1 (1a) and hyperintense in FLAIR (1b). Image 2 shows atrophy of the corpus callosum (green arrow) from the rostrum, knee and medial segment which are mostly affected. Varón de 21 años, presenta trastorno de la marcha y del equilibrio lentamente progresivo desde los 17 años. Su hermano menor presenta síntomas similares. El examen neurológico mostró paraparesia espástica, hiperreflexia generalizada, reflejo plantar extensor bilateral y deterioro cognitivo moderado. HTLV I/II negativo, el estudio de neuroconducción reveló polineuropatía sensitivo-motora axonal. Se identificó mutación en el gen SPG11 en el probando y su hermano menor, mediante secuenciación de nueva generación (NGS). La RMN cerebral mostró el signo de "orejas de lince" y atrofia del cuerpo calloso. Este signo se correlaciona con la degeneración axonal del fórceps menor (cuerpo calloso) y su alta especificidad para la paraplejía espástica hereditaria tipo 11 y 15. Este signo (flechas amarillas) aparece hipointenso en T1 (1a) e hiperintensa en FLAIR (1b). La imagen 2 (flecha verde) muestra atrofia del cuerpo calloso donde el rostro, la rodilla y la parte media del cuerpo se ven más severamente afectadas. Article in Journal/Newspaper Lince Lynx Revistas Científicas de la Universidad Peruana Cayetano Heredia Alta Revista Médica Herediana 34 4 228 |
institution |
Open Polar |
collection |
Revistas Científicas de la Universidad Peruana Cayetano Heredia |
op_collection_id |
ftupcayetanohere |
language |
Spanish |
description |
A 21-year-old male presented with slowly progressive gait and balance disorders since he was 17 years of age. His younger brother presented with similar symptoms. The neurologic examination revealed spastic paraparesis, generalized hyperreflexia, bilateral plantar extensor reflex and a moderate cognitive disorder. The test for HTLV was non-reactive. He had sensitive motor axonal polyneuropathy. Next generation sequencing performed on the patient and his brother found mutations in the SPG11 gene. Brain MRI showed the lynx ears sign and corpus callosum atrophy. This sign correlates with axonal degeneration of the corpus callosum and it is highly specific for hereditary type 11 and 15 spastic paraparesis. The sign (yellow arrows) is hypointense in T1 (1a) and hyperintense in FLAIR (1b). Image 2 shows atrophy of the corpus callosum (green arrow) from the rostrum, knee and medial segment which are mostly affected. Varón de 21 años, presenta trastorno de la marcha y del equilibrio lentamente progresivo desde los 17 años. Su hermano menor presenta síntomas similares. El examen neurológico mostró paraparesia espástica, hiperreflexia generalizada, reflejo plantar extensor bilateral y deterioro cognitivo moderado. HTLV I/II negativo, el estudio de neuroconducción reveló polineuropatía sensitivo-motora axonal. Se identificó mutación en el gen SPG11 en el probando y su hermano menor, mediante secuenciación de nueva generación (NGS). La RMN cerebral mostró el signo de "orejas de lince" y atrofia del cuerpo calloso. Este signo se correlaciona con la degeneración axonal del fórceps menor (cuerpo calloso) y su alta especificidad para la paraplejía espástica hereditaria tipo 11 y 15. Este signo (flechas amarillas) aparece hipointenso en T1 (1a) e hiperintensa en FLAIR (1b). La imagen 2 (flecha verde) muestra atrofia del cuerpo calloso donde el rostro, la rodilla y la parte media del cuerpo se ven más severamente afectadas. |
format |
Article in Journal/Newspaper |
author |
Mattos-Castillo, Jair Sarapura-Castro, Elison |
spellingShingle |
Mattos-Castillo, Jair Sarapura-Castro, Elison Sign of lynx ears and hereditary spastic paraparesis SPG11 |
author_facet |
Mattos-Castillo, Jair Sarapura-Castro, Elison |
author_sort |
Mattos-Castillo, Jair |
title |
Sign of lynx ears and hereditary spastic paraparesis SPG11 |
title_short |
Sign of lynx ears and hereditary spastic paraparesis SPG11 |
title_full |
Sign of lynx ears and hereditary spastic paraparesis SPG11 |
title_fullStr |
Sign of lynx ears and hereditary spastic paraparesis SPG11 |
title_full_unstemmed |
Sign of lynx ears and hereditary spastic paraparesis SPG11 |
title_sort |
sign of lynx ears and hereditary spastic paraparesis spg11 |
publisher |
Universidad Peruana Cayetano Heredia |
publishDate |
2023 |
url |
https://revistas.upch.edu.pe/index.php/RMH/article/view/5150 https://doi.org/10.20453/rmh.v34i4.5150 |
geographic |
Alta |
geographic_facet |
Alta |
genre |
Lince Lynx |
genre_facet |
Lince Lynx |
op_source |
Revista Medica Herediana; Vol 34 No 4 (2023): October - December; 228 Revista Médica Herediana; Vol. 34 Núm. 4 (2023): Octubre-Diciembre; 228 Revista Medica Herediana; v. 34 n. 4 (2023): Outubro - Dezembro; 228 1729-214X 1018-130X |
op_relation |
https://revistas.upch.edu.pe/index.php/RMH/article/view/5150/5432 https://revistas.upch.edu.pe/index.php/RMH/article/view/5150 doi:10.20453/rmh.v34i4.5150 |
op_rights |
http://creativecommons.org/licenses/by/4.0 |
op_doi |
https://doi.org/10.20453/rmh.v34i4.5150 |
container_title |
Revista Médica Herediana |
container_volume |
34 |
container_issue |
4 |
container_start_page |
228 |
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1790609442896609280 |