Mutations in the gene PTEN (phosphate and tensin homologue) are associated with a variety of neurologic and non-neurologic manifestations. The full spectrum of neurologic diseases associated with PTEN mutations has not yet been characterized.

A 19-year-old male with past medical history of Crohn’s disease with a preexisting diagnosis of the PTEN hamartoma syndrome presented to the neurology clinic after incidental identification of multiple T2 hyperintense contrast enhancing lesions in the lumbar spine on an abdominal MRI for his Crohn’s disease. He had no symptoms of myelopathy and a normal neurologic exam. Spine MRI demonstrated thoracic and lumbar paraspinal masses and lumbar nerve sheath masses. Biopsy of one of the paraspinal lesions showed pathology consistent with ganglioneuroma. This is the first case of which we are aware with paraspinal and nerve sheath ganglioneuromas in a patient with a PTEN hamartoma syndrome.

A 40-year-old female presented with new onset bilateral frontotemporal headaches. Neurologic exam was normal. Brain MRI showed a 7 x 8 cm area of T2 hyperintensity without gadolinium contrast enhancement in the right frontal lobe. The patient underwent subtotal resection of the mass. Pathology was consistent with a cerebral malformation with mild glial hypercellularity. Genetic analysis showed a point mutation in PTEN (c.517C>T, p.R173C). Spine MRI and follow up brain MRI did not show any additional tumor or disease recurrence.

Mutations in PTEN can present with space occupying lesions within the central nervous system, and the full spectrum of this disease presentation has not been well defined. We have described two atypical presentations of PTEN associated lesions which further expands our understanding of the range of effects of mutations in this gene.