Hyperekplexia: differential diagnosis
Evidence-based neurology checklist on hyperekplexia: differential diagnosis: Crisponi syndrome This is caused by mutations in the CRLF1 gene It presents with paroxysmal muscle contractions Subjects have a dysmorphic appearance: large face, broad nose, and anteverted nares There is associated…
Crisponi syndrome
- This is caused by mutations in the CRLF1 gene
- It presents with paroxysmal muscle contractions
- Subjects have a dysmorphic appearance: large face, broad nose, and anteverted nares
- There is associated camptodactyly and hyperthermia
- There may be sudden death
Startle syndromes
References
- Crisponi L, Crisponi G, Meloni A, et al. Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1. Am J Hum Genet 2007; 80:971-981.
- Bakker MJ, van Dijk JG, Pramono A, Sutarni S, Tijssen MA. Latah: an Indonesian startle syndrome. Mov Disord 2013; 28:370-379.
- Saint-Hilaire M. Jumping Frenchmen of Maine. Neurology 1986; 36:1269-1271.
- Demir N, Doğan M, Yılmaz S, Peker E, Bulan K, Tuncer O. A confusing coincidence: neonatal hypoglycaemic seizures and hyperekplexia. Case Rep Med 2014; 2014:595412.
