Case Of the Week (COW) 12 July 2015
Lhermitte- Duclos Disease (LDD)
Explanation
LDD, also known as dysplastic gangliocytoma of the cerebellum and granular cell hypertrophy, is a rare cerebellar mass lesion which has hamartomatous as well as neoplastic characteristics.
LDD may be sporadic or associated with Cowden disease, a rare autosomal dominant familial cancer syndrome with multiple manifestations, including trichilemmomas, diverse hamartomas, intestinal polyposis, palmoplantar keratoses, oral papillomatosis, and an increased predisposition to breast cancer and thyroid tumors.
Patients usually present as young adults with occipital headaches, ataxia and papilledema.
The lesions usually show unilateral cerebellar hemispheric involvement. CT demonstrates low-density cerebellar mass that may contain calcifications. There may be thinning of the ipsilateral occipital bone.
MRI shows the characteristic “striated” appearance with widened cerebellar folia. Striated pattern of hypointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging alternates with isointense bands of tissue. Postcontrast enhancement is rare. No diffusion disturbance is seen on ADC maps. MR perfusion may show elevated rCBV.
The lesion shows prominent Lactate peaks on MRS in addition to normal metabolite spectra.
Mass effect by the lesion may cause hydrocephalus and tonsillar herniation. Surgery is typically required in cases of brainstem compression to reduce mass effect upon the fourth ventricle. Regrowth of the lesion following resection has been reported, so careful follow up is advisable.
Contributed By:
Dr Karunakaran M Kalathi MD
Consultant Radiologist(MRI), KG Hospital, Coimbatore
Lhermitte- Duclos Disease (LDD)
Explanation
LDD, also known as dysplastic gangliocytoma of the cerebellum and granular cell hypertrophy, is a rare cerebellar mass lesion which has hamartomatous as well as neoplastic characteristics.
LDD may be sporadic or associated with Cowden disease, a rare autosomal dominant familial cancer syndrome with multiple manifestations, including trichilemmomas, diverse hamartomas, intestinal polyposis, palmoplantar keratoses, oral papillomatosis, and an increased predisposition to breast cancer and thyroid tumors.
Patients usually present as young adults with occipital headaches, ataxia and papilledema.
The lesions usually show unilateral cerebellar hemispheric involvement. CT demonstrates low-density cerebellar mass that may contain calcifications. There may be thinning of the ipsilateral occipital bone.
MRI shows the characteristic “striated” appearance with widened cerebellar folia. Striated pattern of hypointensity on T1-weighted imaging and hyperintensity on T2-weighted imaging alternates with isointense bands of tissue. Postcontrast enhancement is rare. No diffusion disturbance is seen on ADC maps. MR perfusion may show elevated rCBV.
The lesion shows prominent Lactate peaks on MRS in addition to normal metabolite spectra.
Mass effect by the lesion may cause hydrocephalus and tonsillar herniation. Surgery is typically required in cases of brainstem compression to reduce mass effect upon the fourth ventricle. Regrowth of the lesion following resection has been reported, so careful follow up is advisable.
Contributed By:
Dr Karunakaran M Kalathi MD
Consultant Radiologist(MRI), KG Hospital, Coimbatore