|CYCLIC VOMITING SYNDROME (CSV)|
|CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE; CVS|
OMIM = Online Mendelian Inheritance of Men
mutation in the mitochondrial transfer RNA-leucine gene
(CVS) is a functional disorder characterized by stereotypical episodes of intense vomiting separated by weeks to months. Although it can occur at any age, the most common age at presentation is 3-7 years [Kaul A 2015].
Inborn errors of metabolism should be considered in the patient presenting with a recurrent vomiting phenotype [Gelfand AA 2015].
|Laboratory findings|| no specific laboratory findings (P, S, U ,CSF) ()|
growth retardation, poor growth
hearing defect, deafness
microcephaly (<2 SD for age)
headache (severe, recurrent or occipital, migraine)