Lhermitte-Duclos disease (LDD) or dysplastic gangliocytoma of the cerebellum is a rare benign lesion of uncertain pathogenesis characterized by overgrowth of cerebellar ganglion cells which replace granular cells and Purkinje cells; this results in gross thickening of the cerebellar folia. It is revealed by symptoms of raised intracranial pressure, cerebellar impairment and obstructive hydrocep...

Polypyrimidine tract-binding protein (PTB) is a nuclear factor that binds to the polypyrimidine tract of pre-mRNA introns, where it is associated with negative regulation of RNA splicing and with exon silencing. We have previously demonstrated that PTB expression is increased during glial cell transformation and that this increase correlates brain and in glial and neuronal tumors. Paraffin sect...

An ectopic cerebellum, as in Chiari malformations and ectopic cerebellar dysplastic tissue, is a common finding; however, the presence of an organized ectopic cerebellum is exceedingly rare. We describe the MR imaging, surgical, and histologic appearance of an intraspinal ectopic cerebellum in an infant.

Worldwide, cases of pituitary adenoma with gangliocytoma are rarely reported. The current study reports the cases of two 47-year-old females who presented with masses in the sellar region following a general examination and radiological imaging. The two patients underwent sellar region tumor resection via the trans-naso-sphenoid approach. The histopathological examination confirmed the diagnosi...

Pathology from the resection was consistent with central gangliocytoma. On light microscopy there was mature neuronal cell bodies with minor atypical features on a neurofibrillary background. The lack of a glial component OBJECTIVE AND IMPORTANCE: We present an extremely rare case of a middle age man with an asymptomatic central gangliocytoma with calcification that had been found incidentally ...

Lhermitte-Duclos disease, also known as dysplastic cerebellar gangliocytoma, is a rare cerebellar benign tumor with characteristic appearance of thickened cerebellar folia giving a laminated or striated appearance, quite diagnostic of the condition. We had seen a patient with medulloblastoma with imaging findings suspicious for thickened cerebellar folia reminiscent of Lhermitte-Duclos disease....

PTEN hamartoma tumour syndrome (PHTS) is a rare cancer predisposition syndrome, caused chiefly by pathogenic and likely (P/LP) variants in the gene. The rarity of this disease, involvement multiple sites absence pathognomonic features hamper early diagnosis, limiting opportunities for screening. We wondered whether PHTS patients’ prior biopsies may provide clues to syndrome. With ethics approva...