Type Ⅰ sialidosis: a case report / 中华神经科杂志
Chinese Journal of Neurology
;
(12): 251-254, 2021.
Artículo
en Chino
| WPRIM
| ID: wpr-885410
ABSTRACT
Type Ⅰ sialidosis is a neurosomatic disorder related to the storage of lysosomal and induced by shortage of neuraminidase. It is an autosomal recessive disorder, maybe heterogeneous in its onset, clinical manifestations and prognosis. A case of type Ⅰ sialidosis with a missense mutation in the α-N-acetyl-neuraminidase (NEU1) gene is reported. The patient was characterized by reduced visual acuity, ataxia and subcortical myoclonus. Although the macular cherry red spots were not detected in the male patient, his bilateral visual evoked potential showed severely prolonged latencies of P100, which was consistent with continuous decline of his visions. Finally, he was treated with carbamazepine and clonazepam with moderate improvement in the symptom of myoclonus. In order to make the definite diagnosis, the importance of a clinical history integrating all the patient′s clinical manifestations and the mutation in NEU1 gene was highlighted. Regardless of being an uncommon disorder, the burden for those patients with sialidosis was significant. Therefore, this diagnosis in the relevant setting should always be considered.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio pronóstico
Idioma:
Chino
Revista:
Chinese Journal of Neurology
Año:
2021
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS