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...
| Published in: | Revista Médica Herediana |
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| Main Authors: | , |
| Format: | Article in Journal/Newspaper |
| Language: | Spanish |
| Published: |
Universidad Peruana Cayetano Heredia
2023
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| Subjects: | |
| Online Access: | https://revistas.upch.edu.pe/index.php/RMH/article/view/5150 https://doi.org/10.20453/rmh.v34i4.5150 |
| Summary: | 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. |
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