Other features that may be seen on muscle biopsy include variability in fibre size, increase in internal and centralized nuclei, type 1 fibre hypotrophy with normally sized type 2 fibres, increased glycogen storage and variable vacuoles on light microscopy
The diagnosis is confirmed by sequencing of the EPG5. Differential diagnosis
This includes ataxia–telangiectasia, Chédiak–Higashi syndrome, DiGeorge syndrome, Griscelli syndrome and Marinesco–Sjögren syndrome. Treatment
There is no known curative treatment presently. Hearing aids and cataract surgery may be of use. Control of seizures, heart failure, and treatment of infection is essential. Tube feeding may be needed. Eponym
Vici syndrome was first described by Carlo Dionisi-Vici et al. (Rome, Italy) in an article from 1988 about two brothers with a previously unreported disorder. Since then, a few articles have reported the same disorder, which subsequently obtained the name Vici syndrome.About 10 years later, del Campo et al.
Treatment
The pain caused by syringobulbia may be treated with tricyclic antidepressants. See also
Syrinx
Syringomyelia

References
External links

14-182d. at Merck Manual of Diagnosis and Therapy Professional Edition