Cerebellar cortical dysplasia, chronic headache, and tremor in Proteus syndrome

Abstract

The patient was a 19-year-old woman with chronic headache, hand tremor, and school difficulties. The examination revealed large subcutaneous nodules, epidermal nevus, gigantism of the feet, hypertrophy of the hemibody, and mild postural hand tremor. The magnetic resonance imaging (MRI) showed distortion in the morphology of cerebellar folia, increased size of the cerebellum, and foci hypersignal on T2 (Figure). Based on diagnostic criteria published, this person has Proteus syndrome 1 . Proteus syndrome is characterized by exaggerated and asymmetric growth of tissues, and etiology remains not understood, which is probably related to genetic mosaicism. The neurological manifestations include cortical dysplasia, mental retardation, epilepsy, brain tumors, and malformations in the posterior fossa [2][3][4] .

Neurological manifestations of Proteus syndrome – review of the literature

“…Noteworthy, in the reviewed literature we found five cases of cerebellar anomalies [20,24,33,34,35]. Abnormal cerebellum co-existed with headache and hand tremor in two cases [33,34].…”

“…Abnormal cerebellum co-existed with headache and hand tremor in two cases [33,34]. In one case, an overgrowth of frontal sinus is believed to cause increased intracranial pressure in an adult man [31].…”

“…Finally, abnormal muscle tone, both hypotonia and hypertonia, were observed [15,18]. [1,[15][16][17][18][19][20][22][23]25,[31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49]. Cysts in various locations, calcifications, hypoplastic white matter, lissencephaly, pachygyria, polimycrogyria seem to occur rather sporadically.…”