Case 144: Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease)

Abstract

HomeRadiologyVol. 251, No. 1 PreviousNext Diagnosis PleaseFree AccessCase 144: Dysplastic Cerebellar Gangliocytoma (Lhermitte-Duclos Disease)Atul B. Shinagare, Nirupama K. Patil, S. Z. SorteAtul B. Shinagare, Nirupama K. Patil, S. Z. SorteAuthor Affiliations1From the Grant Medical College and Sir J.J. Group of Hospitals, Mumbai, India. Received August 4, 2007; revision requested September 19; revision received October 26; final version accepted November 12.Address correspondence to A.B.S, B-2/3, Shantiban, Near Chaphekar Chowk, Chinchwad Gaon, Pune, Maharashtra, India 411033 (e-mail: [email protected]).Atul B. ShinagareNirupama K. PatilS. Z. SortePublished Online:Apr 1 2009https://doi.org/10.1148/radiol.2511071390MoreSectionsPDF ToolsImage ViewerAdd to favoritesCiteTrack CitationsPermissionsReprints ShareShare onFacebookTwitterLinked InEmail HISTORYA 28-year-old right-handed man presented with long-standing occipital headache, progressive ataxia, and blurred vision. He had begun vomiting 8–10 days earlier. He had no other important history. Neurologic examination revealed average intelligence and was remarkable for cerebellar ataxia. Papilledema was noted at fundoscopy. Magnetic resonance (MR) imaging of the brain was performed. No abnormality was noted on apparent diffusion coefficient maps or T2*-weighted gradient-echo images (not shown).IMAGING FINDINGSOn multiplanar MR images (,Figs 1,–,,,,4), the cerebellum appeared enlarged, with a mass lesion of abnormal signal intensity in the region of the cerebellar vermis. On T1-weighted images, the mass was predominantly hypointense and had typical prominent hypo- and isointense striations (,Fig 1). On T2-weighted images, the mass was predominantly hyperintense and had hyper- and isointense striations with respect to gray matter (,Fig 2). The mass remained hyperintense on the fluid-attenuated inversion-recovery image (,Fig 3). Sagittal (,Fig 1b) and coronal (,Fig 2b) images further showed the extent of the lesion. The fourth ventricle was compressed because of the mass effect (,Figs 1a, ,2a). Associated hydrocephalus was seen on the coronal image (,Fig 2b). The aqueduct of Sylvius was dilated (,Fig 1b). No enhancement was noted on contrast-enhanced images (,Fig 4).DISCUSSIONThis patient's history of headache, blurred vision, and vomiting was suggestive of raised intracranial pressure. Raised intracranial pressure and the long-standing progressive nature of this patient's symptoms argued against acute infarction or cerebellar encephalitis. It should be noted that the lesion was not confined to any specific vascular territory; thus, an infarct was ruled out. Lack of enhancement on the contrast-enhanced images helped us rule out leptomeningeal metastases and inflammatory diseases, such as cerebellar encephalitis. Moreover, the striated appearance was typical of dysplastic cerebellar gangliocytoma, or Lhermitte-Duclos disease, and made this an Aunt Minnie diagnosis. The progressive nature of the symptoms helped us differentiate dysplastic cerebellar gangliocytoma from true dysplasia of the cerebellum. Tuberous sclerosis may be indicative of the presence of dysplastic cerebellar lesions; however, the fact that tuberous sclerosis usually manifests in younger patients and the absence of other typical features of tuberous sclerosis—such as cortical tubers, subependymal nodules, and white matter changes—helped us rule out this entity. Cerebellar astrocytoma and hemangioblastoma were unlikely diagnoses because these diseases typically manifest as cystic tumors with an enhancing nodule. In addition, cerebellar astrocytoma usually manifests in pediatric patients. Medulloblastoma was an unlikely diagnosis considering the age of the patient and the absence of enhancement. Cerebellar metastases were not considered a likely diagnosis, as they are common in older patients (from the 5th decade of life onward), tend to be multiple, and may be hemorrhagic. Diagnosis of dysplastic cerebellar gangliocytoma was confirmed at histopathologic analysis of the surgically removed lesion (,Fig 5).Dysplastic cerebellar gangliocytoma is a rare hamartomatous disorder that is an Aunt Minnie diagnosis because of its typical striated folial pattern on MR images. To our knowledge, Lhermitte and Duclos (,1) reported the first case of cerebellar ganglion cell tumor in 1920. They performed a histologic examination of the lesion, found abnormally widened cerebellar folia with abnormal ganglion cells, and labeled it diffuse ganglioneuroma. Since then, many cases of Lhermitte-Duclos disease have been reported (,2), and this disease is now called dysplastic gangliocytoma. Some other names for this disease are granular cell hypertrophy, granulomolecular hypertrophy of the cerebellum, diffuse hypertrophy of the cerebellar cortex, Purkinjeoma, cerebellar hamartoma, ganglioneuroma, gangliomatosis of the cerebellum, neurocystic blastoma, and hamartomoblastoma (,3,,4).There is considerable controversy over the cause of this disease: It may have a hamartomatous, neoplastic, or congenital malformative origin. Clinical evidence and the close association of dysplastic cerebellar gangliocytoma with multiple hamartoma-neoplasia complex (Cowden syndrome) (,5–,8) favor a hamartomatous origin. Cowden syndrome has autosomal dominant inheritance and is characterized by a variety of mucocutaneous lesions, macrocephaly, and increased frequency of hamartomas and neoplasia in the breast, thyroid, colon, genitourinary organs, and central nervous system (meningioma and glioma) (,5–,9). Hence, patients with Cowden syndrome should undergo an MR examination of the brain. Eighty percent of patients with Cowden syndrome have germline mutations in the PTEN gene at locus 10q23.2, which has been identified as the major susceptibility gene for Cowden syndrome (,10,,11). Most patients with Lhermitte-Duclos disease appear to have a germline loss of one PTEN allele and go on to lose the remaining PTEN allele at some point, thereby allowing abnormal growth of the granule cells (,11,,12). However, recurrence is known to occur after resection (,2,,7). This finding may be indicative of a neoplastic origin.Dysplastic cerebellar gangliocytoma is seen most frequently in young adults (average age, 34 years). Less frequently, it occurs in pediatric patients (,13,,14). There is no sex predilection. Clinically, patients may be asymptomatic, or they may present with symptoms and signs of increased intracranial pressure. Cranial nerve palsies, cerebellar symptoms, and sudden neurologic deterioration as a result of occlusive hydrocephalus are frequent findings (,15). This disease is commonly associated with other congenital malformations, such as megalencephaly, polydactyly, multiple hemangiomata, and skull abnormalities (,8). Usually, patients have long-standing symptoms that have been present for years, indicating the slowly progressive nature of this disease. Mental retardation may be present.Decompression of the ventricular system is the immediate goal of therapy in virtually all symptomatic patients. A ventricular shunt is placed initially and followed by tumor resection. However, complete resection may be difficult because of poorly defined margins. Most patients have an uneventful postoperative period, although recurrence is possible (,2,,3,,7). Long-term follow-up is indicated.Histologic examination reveals disruption of the normal cerebellar cortical cell layers with dysplastic hypertrophied ganglion cells leading to expansion of the granule layer and increased myelination in the molecular layer causing it to widen. There is loss of Purkinje cells and white matter. Markers of the neoplastic process, such as mitotic activity, necrosis, and endothelial proliferation, are characteristically absent. To our knowledge, no case of malignant transformation has been reported (,5).Imaging plays an important role in the diagnostic process. Skull radiographs indicate a long-standing space-occupying lesion in the posterior fossa manifesting as thinning of the skull in the occipital region. The dysplastic gangliocytoma is hypoattenuated on unenhanced computed tomographic (CT) images; however, it may be isoattenuated (,15,,16), merging imperceptibly with the adjacent normal cerebellum. In such cases, the only diagnostic clue may be the mass effect, which manifests as compression of the fourth ventricle, effacement of the cerebellopontine angle cistern, and hydrocephalus. Calcification is an uncommon finding. No appreciable enhancement is seen on contrast-enhanced CT images. However, CT remains of limited value because of the beam-hardening artifacts that are caused by the petrous temporal bone and obscure the details.MR imaging is the modality of choice, as it is for any posterior fossa abnormality. MR imaging reveals a cerebellar mass with a typical striated, corduroy, or tiger-striped folial pattern that consists of alternating bands on both T1- and T2-weighted images. The bands are hyper- and isointense relative to gray matter on T2-weighted images (,17) and iso- and hypointense on T1-weighted images. Calcification is an uncommon finding, but it has been reported (,2). Most dysplastic gangliocytomas do not enhance; however, enhancement has been reported (,18,,19) and is probably due to the presence of anomalous veins. Mass effect is common and causes compression of the fourth ventricle and occlusive hydrocephalus. Syringohydromyelia may be present (,15,,20). MR spectroscopy was not performed in this patient; however, this modality reveals reduced N-acetylaspartate–choline and N-acetylaspartate–creatine ratios compared with those of normal cerebellar tissue (,21). Lactate peak may also be present.It has been suggested that neurologic imaging is sufficient for diagnosis of this condition. Although a case of medulloblastoma mimicking dysplastic gangliocytoma at neurologic imaging has been reported (,22) in a pediatric patient, diagnostic confusion with medulloblastoma is unlikely in most patients because of differences in age group, medical history, and usual imaging features. Imaging remains reliable in the diagnosis of this condition, obviating biopsy in asymptomatic patients. MR imaging is also invaluable for preoperative planning and as an aid to determine the extent of resection. In asymptomatic patients, MR imaging helps in the assessment of the lesion extent, mass effect, presence of hydrocephalus, and need to perform surgery. Regular follow-up is required.Part one of this case appeared 4 months previously and may contain larger images.Figure 1a: (a) Axial T1-weighted (repetition time msec/echo time msec, 570/14) MR image shows the typical striated appearance, with hypo- and isointense bands. Note the abnormal hypointense area (arrows) in the region of the cerebellar vermis. The fourth ventricle (arrowhead) is compressed. (b) Sagittal T1-weighted (570/14) MR image shows the extent of the mass and the typical striated appearance. The fourth ventricle is compressed and hence is not adequately depicted. (The approximate position is indicated by the arrowhead.) The aqueduct of Sylvius (arrow) is dilated, and the cerebellar tonsil (curved arrow) is inferiorly displaced.Figure 1a:Download as PowerPointOpen in Image Viewer Figure 1b: (a) Axial T1-weighted (repetition time msec/echo time msec, 570/14) MR image shows the typical striated appearance, with hypo- and isointense bands. Note the abnormal hypointense area (arrows) in the region of the cerebellar vermis. The fourth ventricle (arrowhead) is compressed. (b) Sagittal T1-weighted (570/14) MR image shows the extent of the mass and the typical striated appearance. The fourth ventricle is compressed and hence is not adequately depicted. (The approximate position is indicated by the arrowhead.) The aqueduct of Sylvius (arrow) is dilated, and the cerebellar tonsil (curved arrow) is inferiorly displaced.Figure 1b:Download as PowerPointOpen in Image Viewer Figure 2a: (a) T2-weighted (3200/90) axial MR image. The mass is predominantly hyperintense, with the typical alternate high- and normal-signal-intensity bands (curved arrow). The fourth ventricle (arrowhead) and other cerebrospinal fluid spaces (arrows) are compressed. (b) T2-weighted (3600/96) coronal MR image shows dilated lateral ventricles (arrowheads) in addition to the typical features of the mass (arrows) seen in a.Figure 2a:Download as PowerPointOpen in Image Viewer Figure 2b: (a) T2-weighted (3200/90) axial MR image. The mass is predominantly hyperintense, with the typical alternate high- and normal-signal-intensity bands (curved arrow). The fourth ventricle (arrowhead) and other cerebrospinal fluid spaces (arrows) are compressed. (b) T2-weighted (3600/96) coronal MR image shows dilated lateral ventricles (arrowheads) in addition to the typical features of the mass (arrows) seen in a.Figure 2b:Download as PowerPointOpen in Image Viewer Figure 3: Axial fluid-attenuated inversion-recovery (9000/110) MR image shows the mass (arrows) is not suppressed.Figure 3:Download as PowerPointOpen in Image Viewer Figure 4: T1-weighted contrast material–enhanced (570/14) axial MR image. Thin linear enhancement (arrows) can be seen at the junction of the mass and the adjacent normal cerebellar tissue, but the mass itself does not show any appreciable enhancement.Figure 4:Download as PowerPointOpen in Image Viewer Figure 5: High-power photomicrograph shows dysplastic neurons with prominent nucleoli (arrowheads). (Hematoxylin-eosin stain; original magnification, ×40.)Figure 5:Download as PowerPointOpen in Image Viewer Authors stated no financial relationship to disclose.References1 Lhermitte J, Duclos P. Sur un ganglioneurome diffus du cortex du cervelet. Bull Assoc Fr Etude Cancer 1920; 9: 99–107. Google Scholar2 Kulkantrakorn K, Awwad EE, Levy B, et al. MRI in Lhermitte-Duclos disease. Neurology 1997;48:725–731. Crossref, Medline, Google Scholar3 Roski RA, Roessman U, Spetzler RF, Kaufman B, Nulsen FE. Clinical and pathological study of dysplastic gangliocytoma. J Neurosurg 1981;55:318–321. Crossref, Medline, Google Scholar4 Marano SR, Johnson PC, Spetzler RF. 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