Diffuse Cerebellar Hypertrophy: Report of a Case

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease) and its relation to the multiple hamartoma syndrome (Cowden disease)

“…Macrocephaly, megaloencephaly, low I.Q., bilateral hypoacusia and deafness, dysarthria and previously diagnosed tumors of the nervous system in three patients (a low-grade astrocytoma, a spongioblastoma and a meningioma) have been reported in association with dysplastic gangliocytomas of the cerebellum [2,3,6,10,13,14,18]. These findings together with the existence of congenital cases and with cases appearing in early childhood and infants, has induced some investigators to consider that this condition represents a more complex embryological change than a simple hamartomatous transformation of some ganglionic cells in the cerebellum [7,23].…”

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

“…Burger and Scheithauer define dysplastic cerebellar gangliocytoma as a “non‐neoplastic mass composed of cerebellar folia expanding by hypertrophic neurones of the internal granular layer” (45). Grossly, the cerebellar hemispheres are markedly thickened and enlarged in the majority of cases (1, 5, 8, 15, 16, 34, 45, 46), however, some authors pointed out that the affected folia may not be apparent on inspection, when situated deeply within the arbor vitae (5, 45). 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).…”

“…Grossly, the cerebellar hemispheres are markedly thickened and enlarged in the majority of cases (1, 5, 8, 15, 16, 34, 45, 46), however, some authors pointed out that the affected folia may not be apparent on inspection, when situated deeply within the arbor vitae (5, 45). 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).…”

“…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). These cells are smaller than normal Purkinje cells and definitely larger than normal granule cells.…”

An unusual cause of posterior fossa mass: Lhermitte-Duclos disease

“…Magnetic resonance (MR) imaging is the appropriate technique allowing preoperative diagnosis with the characteristic striated pattern of exaggerated folia appearance on T2-weighted images [5,6]. The typical histopathologic findings are massive replacement and expansion of the internal granular cell layer by large neurons with vesicular nuclei and prominent nucleoli [7][8][9].…”