AANP: Diagnostic Slide AANP: Diagnostic Slide Session – Case 04Session – Case 04

Tracie Pham, M.D., William H. Yong, M.D., Gary W. Tracie Pham, M.D., William H. Yong, M.D., Gary W. Mathern, M.D., and Harry V. Vinters, M.D.Mathern, M.D., and Harry V. Vinters, M.D.

UCLA Department of Pathology and Laboratory UCLA Department of Pathology and Laboratory Medicine, Division of Neuropathology, and Department Medicine, Division of Neuropathology, and Department

of Neurosurgeryof Neurosurgery

Clinical HistoryClinical History

13 year-old male who presents with 13 year-old male who presents with complex partial seizures since age 6 years complex partial seizures since age 6 years

Initially managed on Trileptal, with Keppra Initially managed on Trileptal, with Keppra added in 2005; currently on Lamictaladded in 2005; currently on Lamictal

History of NF1, diagnosed at age 18 History of NF1, diagnosed at age 18 months due to presence of café-au lait months due to presence of café-au lait skin lesions and neurofibromasskin lesions and neurofibromas

Radiologic StudiesRadiologic Studies

PET scan on 6/22/10: Small focus of PET scan on 6/22/10: Small focus of hypometabolism in the right frontal lobehypometabolism in the right frontal lobe

MRI scan on 9/30/10: Stable cortically- MRI scan on 9/30/10: Stable cortically- based lesion in the right anterior frontal based lesion in the right anterior frontal convexity with small multifocal convexity with small multifocal enhancement, small cystic foci and no enhancement, small cystic foci and no perilesional edema. Stable small foci of perilesional edema. Stable small foci of T2W hyperintensity in the cerebrum. T2W hyperintensity in the cerebrum.

MRI of Brain Scan 9/30/10MRI of Brain Scan 9/30/10

Image courtesy of Hassana Ibrahim, M.D.

MRI of Brain Scan 9/30/10MRI of Brain Scan 9/30/10

Image courtesy of Hassana Ibrahim, M.D.

MRI of Brain Scan 9/30/10MRI of Brain Scan 9/30/10

Image courtesy of Hassana Ibrahim, M.D.

Smooth Muscle Actin

Smooth Muscle Actin

Smooth Muscle Actin

GFAP

Neurofilament

NeuN

Final DiagnosisFinal Diagnosis

MeningioangiomatosisMeningioangiomatosis

Focus consistent with ganglioglioma Focus consistent with ganglioglioma (predominantly ganglion cells), WHO (predominantly ganglion cells), WHO grade Igrade I

Diagnostic PointsDiagnostic Points

Both meningioangiomatosis (MA) and Both meningioangiomatosis (MA) and ganglioglioma can present with seizuresganglioglioma can present with seizuresMeningioangiomatosis associated with NF2 (in Meningioangiomatosis associated with NF2 (in this case, patient had NF1)this case, patient had NF1)Tissue sampling is critical – focus of Tissue sampling is critical – focus of ganglioglioma only on one sectionganglioglioma only on one sectionSmooth muscle actin helpful in highlighting the Smooth muscle actin helpful in highlighting the microvascular component and smooth muscle microvascular component and smooth muscle cell proliferation of MA; interesting SMA cell proliferation of MA; interesting SMA immunoreactivity in cells with neuronal immunoreactivity in cells with neuronal phenotypephenotype

ReferencesReferences

Prayson RA. Tumours arising in the setting of paediatric chronic Prayson RA. Tumours arising in the setting of paediatric chronic epilepsy. Pathology 2010; 42(5): 426-431epilepsy. Pathology 2010; 42(5): 426-431

Stemmer-Rachamimov AO, Horgan MA, Taratuto AL, Munoz DG, Stemmer-Rachamimov AO, Horgan MA, Taratuto AL, Munoz DG, Smith TW, Frosch MP et al. Meningioangiomatosis is associated Smith TW, Frosch MP et al. Meningioangiomatosis is associated with neurofibromatosis 2 but not with somatic alterations of the NF2 with neurofibromatosis 2 but not with somatic alterations of the NF2 gene [Review]. J Neuropathol Exp Neurol 1997; 56: 485-489gene [Review]. J Neuropathol Exp Neurol 1997; 56: 485-489

Vinters HV. Pediatric Vascular Malformations. In: Pathology and Vinters HV. Pediatric Vascular Malformations. In: Pathology and Genetics. Developmental Neuropathology. Golden JA and Harding Genetics. Developmental Neuropathology. Golden JA and Harding BN (eds). Basel: ISN Neuropath Press; 2004, pp. 116-124BN (eds). Basel: ISN Neuropath Press; 2004, pp. 116-124

Wiebe S, Munoz DG, Smith S, and Lee DH. Meningioangiomatosis: Wiebe S, Munoz DG, Smith S, and Lee DH. Meningioangiomatosis: A comprehensive analysis of clinical laboratory features. Brain A comprehensive analysis of clinical laboratory features. Brain 1999; 122: 709-7261999; 122: 709-726