Angelman syndrome and cyclic vomiting syndrome: a new potential association – Not all the vomiting are only vomiting!

Abstract text (incl. figure legends and references)

BACKGROUND:We well know about clinical manifestations of Angelman Syndrome (AS), including gastrointestinal issues, like vomiting, gastroesophageal reflux disease (GERD) and constipation; we report the case of a pediatric patient suffering from AS and cyclic vomiting syndrome (CVS) together. This association is not yet included among multisystemic features of the syndrome, nor put in differential diagnosis with gastrointestinal issues described.

OBJECTIVE:The aim of this case is to open our mind to new possible association with CVS in AS, rarely described before, and put migraine disorders and equivalents in differential diagnosis with gastrointestinal symptoms.

METHODS:We report a patient affected by AS who came to our Headache Centre at 8 years of age: from one year,she reported repeated episodes of general complaint with touching her head and eyes, photophobia and phonophobia, retching and vomiting for hours, with recurrence of one attack per month, rarely during sleep. Her history showed recurrent gastrointestinal disturbance; plus, familiar history was positive for migraine from paternal line. Due to her predisposition to epilepsy, she was undergone to EEG registrations, showing no epileptic alterations.

RESULTS:In order to explain her vomiting, we had to exclude organic causes often related to AS and, in general, to neurodevelopmental disorders. She was asymptomatic among 2 episodes, with a regular periodicity and more episodes in a brief time.

So,we were able to make diagnosis of CVS and its possible progression to migraine without aura, in accordance with ICHD-3 criteria. She was discharged with acute therapy for migraine and vomiting (ibuprofen and ondansetron).

DISCUSSION:We experienced diagnosis of CVS in a patient affected by AS.It seems clear that not all the repeated vomiting in AS is not necessarily part of gastrointestinal manifestation of the syndrome; even if it is only a case, we need to take into account CVS among neurological features of AS.