Dysplastic gangliocytoma of the cerebellum—An ultrastructural study

Abstract

A case of dysplastic gangliocytoma of the cerebellum, a rare disorder with unknown etiology and pathogenesis, was studied ultrastructurally. The intranuclear inclusions identified were not seen to be of viral origin. The ultrastructural characteristics of the abnormal cells support the prevailing theory that these cells represent hypertrophied granular neurons.

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?

“…Various additional abnormalities have been described in association with Lhermitte–Duclos disease (5, 15, 22). These include megalocephaly in about 50% of cases (3, 5, 10, 15, 17, 30, 34, 38), megalencephaly (5, 11, 15, 34, 37), syringomyelia (8, 19, 39), skeletal anomalies, such as polydactylia (8) and cranial asymmetry (10, 11, 14, 21, 34), multiple haemangioma (4, 5) and muco‐cutaneous lesions (3, 17, 29, 30). Table 2 gives an overview of additional malformations previously found to be associated with Lhermitte–Duclos tumour.…”

“…From the very early case reports until the end of the 1970s, preoperative neuroimaging modalities to evaluate indirectly the mass effect of dysplastic cerebellar gangliocytoma mainly consisted of plain skull radiograms, vertebral angiography and ventriculography (2, 4, 5, 7–11, 13). Later, computed tomography (CT) became a sufficient radiographic tool to demonstrate the tumour mass, its distribution within the posterior fossa and its interference with the cerebellar parenchyma, nerval structures and CSF compartments more directly (3, 15, 34, 37, 41).…”

“…In most cases, the affected areas were remarked to be paler in colour than the surrounding normal cerebellar cortex (5, 15, 16, 21, 34, 45, 46). Cross‐section shows a fairly enlargement of the cerebellar cortex, sometimes extending into the vermis (5), with gross reduction or even absence of the central white matter (1, 2, 5, 10, 15). The principal microscopic abnormality is massive replacement and expansion of the internal granular cell layer by large neurones with vesicular nuclei and prominent nucleoli (5, 34, 46).…”

“…The authors originally described the lesion under the name of “ganglioneurome myélinique diffus de l'écore cérébelleuse”. Subsequently, this entity was referred to by a variety of synonymous descriptions, such as diffuse ganglioneuroma of the cerebellar cortex (2, 3) (benign) hypertrophy of the cerebellum (4–6), Purkinjoma (7), hamartoma of the cerebellum (2, 8), gangliocytoma myelinicum diffusum of the cerebellar cortex (9), dysplastic gangliocytoma of the cerebellum (10–14), granule cell hypertrophy of the cerebellum (15) or simply Lhermitte–Duclos disease (16–20).…”

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)

“…[2][3][4][5][6][7][8][9][10][11][12][13][14][15][16] The recognition of the coexistence of Lhermitte-Duclos disease and multiple hamartoma-neoplasia syndrome, also called Cowden syndrome, by Padberg et al 17 suggested a genetic association between the two entities. 1 Today Lhermitte-Duclos disease or dysplastic gangliocytoma of the cerebellum is still a highly unusual and controversial condition.…”