Difficulties in diagnosing progressive bulbar paralysis (Fazio-Londe disease)

Background: Progressive bulbar paralysis of childhood is characterized by progressive cranial nerve palsies especially bilateral facial weakness, swallowing difficulties and bilateral ptosis. Fazio-Londe disease (OMIM 211500) is usually classified with spinal muscular atrophies of autosomal recessive or dominant inheritance. Resembling diseases are Vialetta-van Laere syndrome (OMIM 211530) and Madras-type motor neuron disease. Diagnosis consists of the clinical features, electromyograhic and histologic findings and the exclusion of other causes of progressive bulbar paresis.

Case report: We report a 9 year old german girl with a two year history of slowly progressive bilateral ptosis and newly developed bilateral facial weakness and massive tongue fasciculations pointing to XII palsy.

Osteodysplastc changes of the base of the skull, neoplastic or inflammative brainstem and cranial nerve diseases, myastenia gravis as well as respiratory chain disease were ruled out. Electromyography showed increased polyphasic potentials and muscle biopsy was suggestive of neurogenic atrophy too. There was no significant hearing impairment. In the further course she developed additional swallowing difficulties, dysphagia as well as mild spino-cerebellar signs in form of polymyoclonic tremor and ataxia possibly pointing to a Madras-type motor neuron disease.

Conclusions: The prognosis is difficult, rapidly fatal courses are possible. The specific diagnosis of this clinical syndrome is difficult because of missing criteria especially on molecular genetic basis.