Lhermitte-Duclos Disease in Pediatric Population: Report of 2 Cases

Abstract

<b><i>Introduction:</i></b> Lhermitte-Duclos disease (LDD), also known as dysplastic cerebellar gangliocytoma, is an uncommon disorder in children, characterized by being a slow-growing lesion of the posterior fossa, which mainly affects the granular cell layer of the cerebellar parenchyma and may be associated with other multiple hereditary hamartomas and neoplasms. <b><i>Case Presentation:</i></b> We report 2 cases of LDD in pediatric patients and describe clinical symptoms and radiological and histopathological characteristics. In addition, we analyzed the relation to Cowden Syndrome based on the International Cowden Syndrome Consortium Operational Criteria and the most updated guidelines by the National Comprehensive Cancer Network (NCCN Guidelines Version 1.2020). <b><i>Conclusion:</i></b> LDD is a very rare disease in childhood but should be considered in the differential diagnosis of posterior fossa lesions. LDD can mimic low-grade glial tumors or infectious diseases. Patients develop late clinical manifestations due to the slow-growing pattern, and conservative treatment with outpatient follow-up may be an option in asymptomatic children.

Lhermitte-Duclos disease: A rare case of cerebellar tumor with successful surgical treatment

“…[ 16 , 18 ] While the etiology of LDD remains unclear, studies have suggested that it may be associated with germline mutations in the PTEN gene, which is involved in the regulation of cell growth and division; however, it is not part of a diagnostic criterion for the diagnosis of LDD. [ 11 , 16 , 17 ] In the particular case of our patient, the presence of another hamartoma in some other location was ruled out. When the lesion is not diagnosed and treatment is delayed, the lesion may grow, compress the brain, cause a mass effect, and elevated intracranial pressure, warranting surgical removal.…”

“…[ 2 , 13 , 15 ] Growth of the cerebellar cortex gives rise to a thickened folia, which loses its architecture resulting in asymmetric expansion of the cerebellar hemisphere. [ 17 ] Although, for disease confirmation, a typical “tiger-striped appearance” of hyperintensity on T2-weighted images and corresponding the abnormal thickening of the cerebellar folia affected by the tumor on MRI is required. [ 1 , 4 , 14 ] Nonspecific histologic findings include dysplastic ganglion cells, microscopic expansion of the granular cell layer with abundant cytoplasm, large nuclei with prominent nucleoli and granular chromatin, and absence of the Purkinje cell layer.…”

“…[ 1 , 4 , 14 ] Nonspecific histologic findings include dysplastic ganglion cells, microscopic expansion of the granular cell layer with abundant cytoplasm, large nuclei with prominent nucleoli and granular chromatin, and absence of the Purkinje cell layer. [ 3 , 17 , 19 , 20 ] Therefore, imaging is of great significance for confirming a disease diagnosis. [ 7 ] Treatment options for LDD are limited and the optimal management strategy remains controversial.…”

“…Surgery is the mainstay of treatment of cerebellar disorders and complete resection of the tumor is usually curative; however, natural history in some cases results in progressive growth of the tumor mass,[ 14 , 17 ] which can be detected in early childhood, should be considered in the differential diagnosis of posterior fossa lesions, and can mimic low-grade glial tumors or infection diseases. [ 17 ]…”

Pediatric Brain Tumors: From Modern Classification System to Current Principles of Management

“…This is a rare entity in children that mimics low-grade glial tumors or infectious diseases. A slow-growing pattern and late clinical manifestations allow for conservative treatment and outpatient follow-up for asymptomatic children [111].…”