Acute presentation of lhermitte-duclos disease in adult patient in association with cowden syndrome

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Appl Radiol


A 33-year-old female presented to the emergency department with the chief complaint of new onset severe headache, persisting for five days, with accompanying subjective intermittent ataxia. There was no relevant history of prior migraines or similar such sentinel events. Review of systems was noncontributory. CT imaging demonstrated a nonspecific hypodense mass centered in the superior right cerebellum with mild locoregional mass effect upon the fourth ventricle without evidence of obstructive hydrocephalus. The appearance was nonspecific and considerations included subacute infarct, infiltrating glioma or cerebellitis. Subsequently, MRI was performed, demonstrating the characteristic striated morphologic appearance of dysplastic gangliocytoma or so-called Lhermitte-Duclos disease. Given the prior relevant surgical history of thyroidectomy for goiter and subcutaneous lipoma resection, the findings were felt to be in conjunction with previously undiagnosed Cowden syndrome. The patient was discharged after symptomatic pain control and scheduled non-operative follow up with neurosurgery as an outpatient. The relationship with Cowden syndrome is both clinically relevant and pertinent as well due to the heightened predisposition in these patients for a vicissitude of both benign and malignant neoplasms involving the breast, thyroid, dermis, gastrointestinal, genitourinary and central nervous systems, with annual surveillance and screening measures being highly warranted.

Lhermitte-Duclos disease, so named for French neurologists Jacques Lhermitte and P Duclos after their initial description of the entity in 1920, has undergone a spectrum of growth in pathophysiologic understanding recently and is now considered to be a dysplastic gangliocytoma of the cerebellum, a WHO grade 1 tumor.1 Growth is slow and there is no reported malignant potential with clinical presentation typically entailing signs of increased intracranial pressure, obstructive hydrocephalus, and cerebellar dysfunction.1,2 The MR imaging appearance is considered diagnostic and can obviate biopsy, consisting of a tigroid, striated appearance of the nonenhancing cerebellar mass with superficial bands of alternating T2 hyper- and isointensity to grey matter, iso- and hypointense on T1-weighted imaging, with sporadic calcification reported and minimal loco-regional mass effect.3,4 A strong association with Cowden syndrome, an autosomal dominant, multigenic group of germ line mutations, is now recognized. Due to the heightened risk for a host of potential neuroectodermal related malignancies associated with this phakomatosis, patients are advised to undergo appropriate targeted annual screening and surveillance. As such, the radiologist may play an important role in first suggesting the underlying syndrome based on initial neuroimaging findings.





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