Fazio-Londe Syndrome

Classification according to ICD-10
G12.1	Other Inherited Spinal Muscular Atrophy Progressive Bulbar Paralysis in Childhood [Fazio-Londe Syndrome]
ICD-10 online (WHO version 2019)

The Fazio-Londe disease , including progressive bulbar paralysis of childhood called, is a very rare neurological genetic disease , it in particular to a rapidly increasing damage (degeneration) cranial nerve nuclei occurs in children. The result is paralysis of the chewing and facial muscles , the throat and larynx muscles . The disease belongs to the group of spinal muscular atrophies or motor neuron diseases and is one of the three forms of progressive bulbar palsy .

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

root cause

The disease develops through degeneration mainly bulbar, that is, motor cranial nerve nuclei located in the elongated medulla (medulla oblongata) . It is therefore a motor neuron disease in which the second motor neuron of certain cranial nerves is damaged.

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

Mutations in the above gene cause a similar disease, Brown-Vialetto-van-Laere syndrome . The relationship between the two diseases was discussed before the mutation was discovered.

Epidemiology

There are very few cases described in the literature. By 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 onset of the disease between 2 and 4 years of age and the onset in the second decade of life.

Clinical picture and prognosis

The disease is characterized by paralysis , especially of the chewing , facial , throat and larynx muscles. Weakness of the throat and larynx muscles leads to swallowing (dysphagia) and speech disorders (dysarthria) . It can also lead to eye muscle paresis .

About half of the affected children die within 1–2 years of the first onset of the disease.

therapy

In a case report in two patients with Fazio-Londe syndrome, administration of riboflavin resulted in a rapid regression of the symptoms. However , there are no long-term observational studies , cohort studies or randomized clinical studies .

literature

• AM Bosch, NG Abeling u. a .: Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. In: Journal of inherited metabolic disease , Volume 34, Number 1, February 2011, ISSN  1573-2665 , pp. 159-164, doi: 10.1007 / s10545-010-9242-z , PMID 21110228 , PMC 302669 (free full text).
• S. Dipti, AM Childs, et al. a .: Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. In: Brain & development Volume 27, Number 6, September 2005, ISSN  0387-7604 , pp. 443-446, doi: 10.1016 / j.braindev.2004.10.003 , PMID 16122634 .
• MA McShane, S. Boyd, et al. a .: Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. In: Brain: a journal of neurology , Volume 115 (Pt 6), December 1992, ISSN  0006-8950 , pp. 1889-1900, PMID 1486466 .
• Fazio-Londe Disease.  In: Online Mendelian Inheritance in Man . (English)
• P. Londe: Paralysia bulbaire progressive, infantile et familiale . In: Revue de Médecine , 14, 1894, pp. 212-254.
• P. Londe: Paralysia bulbaire progressive infantile et familiale. In: Revue de Médecine , 13, 1893, pp. 1020-1030.
• M. Fazio: Ereditarieta della paralisi bulbare progressiva . In: Reforma Medica , 8, 1892, p. 327.

Web links

Fazio-Londe Syndrome.  In: Online Mendelian Inheritance in Man . (English)

Individual evidence

1. ↑ ^{a b} B. S. Russman: Spinal muscular atrophy: clinical classification and disease heterogeneity. In: Journal of child neurology , Volume 22, Number 8, August 2007, ISSN  0883-0738 , p. 950, doi: 10.1177 / 0883073807305673 , PMID 17761648 (review).
2. ↑ E. Fazio. Whonamedit.com; Retrieved August 9, 2011
3. ^ Paul FL Londe. Whonamedit.com; Retrieved August 9, 2011
4. ↑ ^{a b} M. A. McShane, S. Boyd et al. a .: Progressive bulbar paralysis of childhood. A reappraisal of Fazio-Londe disease. In: Brain: a journal of neurology Volume 115 (Pt 6), December 1992, ISSN  0006-8950 , p. 1889, PMID 1486466 .
5. ↑ ^{a b} Fazio-Londe syndrome.  In: Online Mendelian Inheritance in Man . (English)
6. ↑ ^{a b} A. M. Bosch, NG Abeling u. a .: Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment. In: Journal of inherited metabolic disease Volume 34, Number 1, February 2011, ISSN  1573-2665 , pp. 159-164, doi: 10.1007 / s10545-010-9242-z , PMID 21110228 , PMC 302669 (free full text).
7. ↑ S. Dipti, AM Childs et al. a .: Brown-Vialetto-Van Laere syndrome; variability in age at onset and disease progression highlighting the phenotypic overlap with Fazio-Londe disease. In: Brain & development Volume 27, Number 6, September 2005, ISSN  0387-7604 , pp. 443-446, doi: 10.1016 / j.braindev.2004.10.003 , PMID 16122634 .
8. ↑ Peter Berlit: Clinical Neurology. Heidelberg Springer 2006, p. 557, ISBN 978-3-540-01982-4 .
9. ↑ S. Winter, AC Ludolph: Motoneuron Diseases . In: Jürgen Winkler, Adolph C. Ludolph: Neurodegenerative diseases of old age . 1st edition. Georg Thieme Verlag, ISBN 3-13-138081-0 , p. 227.
10. ↑ F. Jerusalem, p Zierz: muscle disorders . 3. Edition. Thieme-Verlag, 2003, ISBN 978-3-13-567803-0 , p. 321

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