Lhermitte-Duclos Disease (Granule Cell Hypertrophy of the Cerebellum) Pathological Analysis of the First Familial Cases

Lhermitte-Duclos disease with neurofibrillary tangles in heterotopic cerebral grey matter

“…Macrocephaly is found in approximately half of LDD cases and is usually present in other PTEN-related conditions such as Bannayan-RuvalcabaRiley syndrome [14,25]. However, this number may be higher as Mary Ambler suggested that isolated macrocephaly might be a sign of subclinical LDD [3]. Leptomeningeal glial nests result from an over-migration of glia beyond the pia limitans to the subarachnoid space [8,12].…”

“…Many cases are associated with a mutation in the phosphatase and tensin homolog or PTEN gene which is also involved in numerous otherwise unrelated central nervous system abnormalities, namely Cowden syndrome [1,6,11], autism spectrum disorder [18], cerebral cortical dysplasia [11,30] and Bannayan-Riley-Ruvalcaba syndrome [30]. The presence of cortical heterotopia has been reported in a small number of LDD cases [3,5,17,32]. We describe a unique case of LDD with cerebral cortical heterotopic grey matter containing neurofibrillary tangles.…”

Lhermitte Duclos disease: a rare cerebellar lesion with characteristic neuroimaging features

“…1,2 There is considerable debate regarding it being a developmental disorder, hamartoma, or a low-grade neoplasm and hence has been described by a variety of terms, including granule cell hypertrophy, ganglioneuroma, purkinjeoma, hamartoma gangliomatosis, neurocystic blastoma, hamartomoblastoma and granulomolecular hypertrophy of the cerebellum. [3][4][5] A case of histopathologically confirmed LhermitteDuclos disease with characteristic imaging findings and successful surgical management is reported and our findings are discussed.…”

L Hermitte - Duclos Disease - Intraoperative Cytological Findings of a Rare Entity

“…[1] After Lhermitte and duclos, Ambler et al in1969 and Ferrer et al in 1979 published their study on this rare entity followed by few other authors. [2,3] The lesion usually manifest as a slowly growing mass formed by abnormal neurons that appear more malformative than tumoral. The abnormal neurons are usually hypertrophied with heavily myelinated axons.…”

“…While, Williams (1981) suggested that this lesion could be a phenotypic variability of postmigratory cerebellar neurons continuing to grow at a slow rate throughout postnatal period. [2,5] CASE REPORT: A 25 yrs old female presented with headache for 3 months and loss of appetite for 15 days. The review of history was unremarkable.…”