BackgroundThe Mulvihill-Smith Syndrome was first recognized in 1975. After the recognition of the Mulvihill-Smith Syndrome, ten cases have been described.Case presentationThis article describes the eleventh case of this syndrome in a male patient, 24 years-old with short stature and microcephaly with mild cognitive impairment, deafness and allergic conjunctivitis. The patient was hospitalized several times for repeated infections, and the presence of multiple melanocytic nevi on his skin was noticed.ConclusionsBased on the entire set of signs and symptoms presented in our study, it was diagnosed the patient with Mulvihill-Smith Syndrome.

A 5-year-old boy presented with severe frontal headache followed by right cranial nerve paresis. His previous medical history, blood tests and CSF analysis were unremarkable, and he made a full recovery after 4 weeks. Nevertheless, a similar episode occurred 5 years later. Magnetic resonance imaging follow-up supported diagnosis of recurrent ophthalmoplegic migraine (Figure).