Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases

Abstract

Two cases of Lhermitte-Duclos disease or diffuse hypertrophy of the cerebellum are presented. This brings the total number of such cases reported in the literature to 42. Pathologically the disease is characterized by a circumscribed cerebellar lesion consisting of thickening of the cortex with closely packed dysplastic ganglion cells in the granular layer and with large myelinated axons in the molecular layer. Purkinje cells are missing and the central white matter is greatly reduced. The first patient, a man 39 years of age, had in association to the cerebellar lesion, a megalencephalic brain (2320 g). He had suffered from epilepsy since he was 24-years-old and died with metastasizing colon carcinoma. An electron microscopic study of the cerebellar lesion disclosed perikarya containing large amounts of rough endoplasmic reticulum, cell processes filled with coated and dense core vesicles. In addition, there were numerous enlarged myelinated axons in the molecular layer. The second patient, a woman 74 years of age, had a small area of diffuse hypertrophy of the left cerebellar hemisphere measuring one centimeter in diameter. Specific symptoms were very scant in the first case and absent in the second one indicating a very slow evolution - if any - of the disease process. The etiology and pathogenesis remain unknown. However, the organoid structure of the lesion, the frequent association of megalencephaly and other congenital abnormalities, and the occurrence of familiar cases would favor the disease being basically a developmental disorder.

Phosphatase and tensin homolog, deleted on chromosome 10 deficiency in brain causes defects in synaptic structure, transmission and plasticity, and myelination abnormalities

“…Electron microscopy and Golgi stain analyses demonstrated hypertrophic granule neurons accompanied by increases in ribosomes, similar to our results. The dendritic spines were thickened and pre-synaptic terminals were enlarged and contained dense regions of synaptic vesicles (Gessaga, 1980, Reznik and Schoenen, 1983, Marano et al, 1988, Ferrer et al, 1990, Hair et al, 1992. Other defects observed in Pten cKO brains reflect the spectrum of abnormalities that may result from complete Pten inactivation in different cell populations.…”

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

“…The lesion causes progressive mass effects in the posterior fossa and is commonly associated with cerebellar dysfunction, non‐communicating hydrocephalus and signs of increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum most frequently presents in the third and fourth decades of life (5, 8, 12, 14, 15, 26, 37, 38, 40), but the age at clinical manifestation ranges from birth (6) to the sixth decade (34). There is no obvious sex preponderance.…”

“…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.…”

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos disease)

“…Frequently, during surgical exploration, no tumour mass can be found. 7,9,13,33,34 Thus, the absence of tumour limits in the depth of the cerebellar hemisphere constitutes the major technical problem during surgery. 7,9,13,33,34 Thus, the absence of tumour limits in the depth of the cerebellar hemisphere constitutes the major technical problem during surgery.…”