Fazio-Londe syndrome in siblings from India with different phenotypes

Publication date: Available online 2 March 2018
Source:Brain and Development
Author(s): Vykuntaraju K. Gowda, Tamilarasan Udhayabanu, Perumal Varalakshmi, Varunvenkat M. Srinivasan, Balasubramaniem Ashokkumar
BackgroundFazio-Londe syndrome also called progressive bulbar palsy of childhood is a very rare motor neuron disease of pediatric age group characterized by progressive paralysis of lower cranial nerves.ObjectiveTo describe Fazio-Londe syndrome in sibling with different phenotype.MethodsA 6 years old female child presented with inability to close eyes, difficulty in swallowing, respiratory muscle weakness and voice change since 5 yr of age. Examination showed lower motor neuron facial nerve palsy, absent gag reflex, tongue atrophy, fasciculation, limb wasting and exaggerated deep tendon reflexes. An 11 year old boy, elder sibling of the above child presented with similar complaints at 10 years of age, other than later onset and lack of respiratory problem. Genetic testing in both cases confirmed the diagnosis of Fazio-Londe Syndrome.ConclusionIn any child who presents with progressive bulbar palsy with lower motor neuron facial palsy a diagnosis of Fazio-Londe Syndrome should be considered and family members should also be screened.



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