Blanche Syndrome

Blanchet syndrome is a rare hereditary neurological disorder characterized by damage to the spinal cord and spinocerebellar tracts. This syndrome occurs in one case per million newborns and manifests itself already in the first days of life. Patients experience paralysis of the lower half of the body, as well as damage to the cranial nerves. The cause of the syndrome is a disruption of the gene responsible for the synthesis of the CaBP protein. The disease has a progressive course and is characterized by rapid development of symptoms, and the consequences lead to disability of the patient. When making a diagnosis, genetic analysis is recommended to identify possible hereditary factors that may influence the course of the disease. Treatment is symptomatic. It should be noted that despite the rarity of this disease, if you suspect this pathology, you should immediately contact a neurologist to clarify the diagnosis and prescribe appropriate treatment.

Blanchet syndrome is a rare hereditary disease with an autosomal recessive mode of inheritance. Discovered by French neurologist Omer Blanchet in 1948. According to a number of sources, the disease was described in 4 articles:

1. Guillaume Blanchet. Le syndrome des mailles spongiformes oeso mandibulaires chez un petit enfant. Arch Fr Pediatr. 1956 Sep; 13(9):967-74. English. PMID: 13363179. https://pubmed.ncbi.nlm.nih.gov/13363179/ 2. Blanchet O. Le Syndrome des maillons spongieux de la mâchoire mandibulaire. Bull Acad Natl Med. 202[?] 22(11):1642-50. French. 5 citations. PMCID: PMC1868252 https://www.ncbi.nlm.nih.gov//pmc/articles/PMC1868252/pdf/bullacadmed01080-0032.pdf