Paralisia bulbar progressiva juvenil doença de Fazio-Londe: relato de caso Progressive bulbar palsy (Fazio-Londe disease): case report

Abstract

A paralisia bulbar progressiva, também denominada doença de Fazio-Londe, caracteriza-se pelo acometimento degenerativo progressivo de nervos cranianos bulbares em crianças. Foi descrita primeiramente por Fazio em 1892 e até a presente data somente 30 casos foram relatados na literatura. Acomete ambos os sexos, assumindo dois padrões clínicos, um de início precoce (idade Progressive bulbar palsy, also called Fazio -Londe disease, is characterized by progressive impairment of cranial nerves in children. It was first reported by Fazio in 1892 and until now only 30 cases have been published in the literature. Both sexes can be affected and clinical course can be divided on early (< 6 years age, predominance of respiratory symptoms) and late course (6-20 years of age, predominance of motor symptoms on superior limbs). We report a 4 years old boy that started with intense stridor and respiratory distress, initially being diagnosed as an acute asthma attack. Clinical signs worsened and 12 months latter he already had impairment of cranial nerves V, VII, VIII, IX and X confirmed by clinical examination and neurophysiological evaluation.

Keywords

• doença de Fazio-Londe
• paralisia bulbar progressiva
• nervos cranianos
• tronco cerebral
• infância
• Fazio-Londe disease
• progressive bulbar palsy
• cranial nerves
• brainstem
• childhood