Dysplastic Cerebellar Gangliocytoma Lhermitte-Duclos Disease Imaging and Magnetic Resonance Spectroscopy
Christian Fauria-Robinson, MD; Rebecca Meyers , MD; Sarah Castillo-Jorge , MD; Jeremy Nguyen, MD; and Enrique Palacios, MD, FACR
Lhermitte-Duclos disease (LDD) is a rare, benign, slow-growing, unilateral mass of the cerebellar cortex. Our case is that of a 71-year-old male with a superior cerebellar lesion consistent with LDD on imaging and Magnetic Resonance Spectroscopy (MRS). It has been reported that MRS can be a valuable diagnostic addition, as it allows for a non-invasive diagnosis and analysis to distinguish a benign lesion, such as an intraparenchymal lesion, and in our case, from a true neoplastic lesion.
INTRODUCTION Lhermitte-Duclos disease (LDD), also known as dys- plastic cerebellar gangliocytoma, is a rare, benign, slow- growing, unilateral mass of the cerebellar cortex. Although this lesion was first described in 1920, debate continues as to whether LDD represents a hamartoma, malformation, or a neoplasm. 1,2 The LDD tumor is composed of hypertrophic granular cells, but the degree of differentiation of these granular cells is variable. 2,3 Although most cases of LDD are sporadic, it is closely associated with the autosomal-dom- inant Cowden Syndrome (multiple-hamartoma-neoplasm syndrome), with adult onset of LDD considered as a phenol variant of Cowden Syndrome 11 and with mutations of the PTEN gene. 4 Typically, patients with LDD can present in the third or fourth decade with clinical signs of cerebellar dysfunction, increased intracranial pressure, cranial nerve palsies, and obstructive hydrocephalus caused by the mass lesion. 2 Patients presenting with LDD may have other as- sociated signs, including polydactyly, hemangiomas, and skull defects. 2 In addition, patients may present with signs of Cowden Syndrome: trichilemmomas, papillomatous papules, acral keratoses, lipomas, neuromas, hemangio- mas, scrotal tongue, macrocephaly, breast adenomas and fibrocystic breast disease, thyroid adenomas, and uterine leiomyomas. 5 CASE REPORT A 71-year-oldman presented to Tulane Medical Center with a history of unsteady gait for two weeks and a fall on the previous day, during which he hit his head. His medical history was positive only for diabetes mellitus,
hypertension, and cardiac arrhythmia. He did not report any relevant family history. On neurologic exam, reflexes were normal at 2+, except for 1+ Achilles tendon reflexes bilaterally. Finger-to-nose testing was normal using both upper extremities. Heel-to-shin testing revealed slight ataxia on the right but was found to be normal on the left. Gait testing was remarkable with mild right leg circumduction during ambulation. Otherwise, the patient had no signs of CNS lesions, such as cranial nerve palsy, aphasia, or any other focal neurologic deficits. Upon presentation, the patient underwent computed to- mographic (CT) evaluation for possible intracranial trauma versus cerebrovascular accident. His initial CT scan was performed without contrast and revealed a hypodensity in the right cerebellar hemisphere measuring 3.2 x 2.9 cmwith a striated pattern abutting the tentorium with small linear areas of hyperattenuation that were considered to reflect traumatic hemorrhages or calcifications. A subsequent magnetic resonance (MR) evaluation was performed with and without contrast to clarify the findings on CT. MR (Figure 1) demonstrated a heteroge- neously hyperintense lesion on DWI without restriction in the superior portion of the right cerebellar hemisphere measuring 4.6 x 2.7 x 2.2 cm. The lesion demonstrated het- erogeneous, somewhat striated pattern of T2 hyperintensity and T1 hypointensity, withmixed signal intensity on FLAIR sequences. Gross hyperintensity and punctate hypointensity were seen on gradient echo, representing calcification. The lesion caused mass effect, with effacement of the superior fourth ventricle. Based on the MR findings, the differential included Lhermitte-Duclos, low-grade glioma, epidermoid tumor, and hypovascular meningioma. A correlative proton MR Spectroscopy ( 1 H MRS) exam
J La State Med Soc VOL 166 September/October 2014 193
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