CYCLIC VOMITING SYNDROME (CSV)

Question 1

What is  CYCLIC VOMITING SYNDROME (CSV)?

Accepted Answer

very rare

mitochondrial

multifactirial

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].

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Syndrom des zyklischen Erbrechens

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 500007

Question 4

Which enzymes are involved?

Accepted Answer

unknown

Disease	CYCLIC VOMITING SYNDROME (CSV)
Synonym	CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE; CVS
OMIM	500007 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Gene locus	---
ICD	R11
Summary	very rare mitochondrial multifactirial 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) ()
Symptoms	cardiomyopathy gastrointestinal dysmotility growth retardation, poor growth hearing defect, deafness microcephaly (<2 SD for age) pain, abdominal vomiting behavior, anxiety headache (severe, recurrent or occipital, migraine) hypotonia muscle weakness nausea onset, adolescent onset, childhood pallor seizures strabismus