Fazio–Londe disease

The Fazio - Londe syndrome, also called progressive bulbar paralysis of childhood, is a very rare hereditary neurological disease, in which there is a rapidly increasing damage ( degeneration ) of certain cranial nerve nuclei in children comes. The result is paralysis of chewing, the facial muscles, the pharyngeal and laryngeal muscles. The disease belongs to the group of spinal muscular atrophy, or Moto Euro diseases and is one of the three forms of progressive bulbar palsy.

Named the syndrome after the Italian doctor Eugenio Fazio (1849-1902) and the French neurologist Paul Londe is ( 1864-1944 ).

Cause

The disease develops by degeneration mainly bulbar, that is in the medulla oblongata (medulla oblongata ) localized motor cranial nerve nuclei. It is a Moto Euro disease in which the second motor neuron of certain cranial nerves is damaged.

2010 2 siblings with Fazio - Londe syndrome is a mutation in C20ORF54 gene was detected on chromosome 20. The gene product is a protein found in the small intestine, and as a transporter of riboflavin (vitamin B2) functions. The riboflavin transporter serves to absorb riboflavin from food. In both patients, affected a riboflavin deficiency was found.

Mutations in the gene cause above a similar disease, Brown - Van Laere syndrome - Vialetto. The relationship between the two diseases has been discussed before the discovery of the mutation.

Epidemiology

There are in the literature, very few cases described. Until 1992, there were 22 case reports of 24 affected children, including 4 siblings. The information on the typical age of onset are also very different. They range from the beginning of the disease 2-4 years, beginning in the second decade of life.

Disease and prognosis

The disease is characterized of chewing, facial expression, the pharyngeal and laryngeal muscles mainly by paralysis. Due to weakness of the pharyngeal and laryngeal muscles it comes to problems with swallowing ( Dyphagie ) and speech disorder ( dysarthria ). It can also cause eye muscle paresis.

About half of the affected children die within 1-2 years after onset of the disease.

Therapy

In two patients with Fazio - Londe syndrome is a rapid regression of symptoms was achieved in a case report by administration of riboflavin. Long-term observational studies, cohort studies or randomized clinical studies are lacking, however.