Neurology India, Vol. 58, No. 2, March-April, 2010, pp. 309-311
Bilateral Lhermitte-Duclos disease
Mustafa Bozbuga1, Ilker Gulec1, Hikmet Turan Suslu1, Cicek Bayindir2
1 2nd Department of Neurosurgery, Lutfi Kirdar Kartal Education and Research Hospital, Istanbul, Turkey
Correspondence Address: Hikmet Turan Suslu, Dr. Lutfi Kirdar Kartal Egitim ve Arastirma Hastanesi, Kartal, Istanbul, Turkey, email@example.com
Date of Acceptance: 25-Nov-2009
Code Number: ni10078
AbstractLhermitte-Duclos disease (LDD) is a pathologic entity with progrediating, diffuse hypertrophy chiefly of the stratum granulosum of the cerebellum. Typically LDD is a unilateral lesion of the cerebellum or in vermis. Here we report a case of LDD with bilateral lesions of cerebellar hemispheres managed surgically. A 28-year-old woman presented with one-year history of progressive headache, nausea, vomiting, and blurred vision. Neurologic examination revealed a bilateral mild papilledema, mild dysmetria, and dysdiadochokinesia. The cerebellar lesions caused moderate mass effect in posterior fossa with hydrocephalus, and Chiari type I malformation. We performed the suboccipital-retrosigmoid approach, and removed completely the left intracerebellar mass. Symptoms related to elevated intracranial pressure disappeared in a short period postoperatively.
Keywords: Bilaterality, Chiari malformation, hydrocephalus, Lhermitte-Duclos disease, surgery
Lhermitte-Duclos disease (LDD), dysplastic gangliocytoma of the cerebellum, is a rare disease that was reported for the first time in 1920.  It is considered a complex hamartoma or malformation rather than a true neoplasm, and is characterized by progressive tumor-like mass which forms and replaces the normal architecture in the cerebellum.  The LDD is classically described as a disease with unilateral mass in the cerebellar hemisphere.  In the literature, there was only one reported case of LDD with bilateral lesions of the cerebellum identified at autopsy.  We report another case of LDD with bilateral lesions of the cerebellar hemispheres managed surgically.
A 28-year-old woman presented with one-year history of progressive headache, nausea, vomiting, and blurred vision. Neurologic examination revealed a bilateral mild papilledema, mild dysmetria, and dysdiadochokinesia. Computed tomography (CT) showed 3 cm and 5 cm in size, bilateral masses in the cerebellum with linear areas of low attenuation and mass effect on the fourth ventricle causing obstructive hydrocephalus. Magnetic resonance imaging (MRI) of brain showed the characteristic finding of sharply defined, nonenhancing bilateral masses in both the cerebellar hemispheres. The lesions were hypointense on T1-weighted images and hyperintense on T2-weighted images, and showed a striated appearance [Figure - 1] and [Figure - 2]. MRI of the brain also revealed Chiari type I malformation (without syringomyelia) and associated hydrocephalus [Figure - 3]. Imaging findings strongly indicated LDD. A careful systemic investigation for Cowden disease (CD) was negative. There was no familial history of malignant disease for CD. Total excision of left intracerebellar mass was carried out via the suboccipital-retrosigmoid approach. Histopathological examination showed that the internal granular layer was only focally preserved. The linear distribution of Purkinje cells was absent. The molecular layer showed enlargement, which was filled by numerous, dysplastic cells. These cells had large eosinophilic cytoplasms and round-to-oval nuclei with distinct nucleoli. Immunohistochemically, synaptophysin and neurofilament demonstrated focal positivity. Synaptophysin positivity was mostly on the cell membranes, whereas neurofilament revealed cytoplasmic positivity. GFAP demonstrated scattered, reactive astrocytes between the ganglionic cells [Figure - 4] and [Figure - 5]. Symptoms related to elevated intracranial pressure disappeared after surgery in a short period, and cerebellar signs were less prominent. MRI showed no recurrence, and no hydrocephalus after a 6-month follow-up period.
Approximately in 40% of documented cases of LDD, it was found to be associated with CD.  CD is a rare autosomally dominant inherited syndrome characterized by multiple hamartomas involving various organ systems derived from all three germ cell layers.  The International Cowden syndrome Consortium has proposed diagnosis criteria as pathognamonic (mucocutaneous lesions), major (breast cancer, thyroid cancer, macrocephaly, endometrial cancer), and minor (noncancerous thyroid lesions, mental retardation, gastrointestinal hamartomas, breast fibrocystic disease, lipomas, fibromas, genitourinary tumors, genitourinary manifestations, uterine fibroid tumors) criteria for the diagnosis of CD in patients with LDD.  The possibility of neoplastic or preneoplastic states in CD stresses the importance of a through screening when LDD is diagnosed. We carried out a careful clinical evaluation and examination of the whole body. We could not find a tumor or tumor-like mass in the examination process of the whole body. So, we concluded that LDD in the present case was probably sporadic.
Does bilateral involvement of cerebellar hemispheres in LDD has any significance? Practically, mass effect from the multiple lesions in the posterior fossa may be more than a single lesion and may predispose to Chiari malformation. However, these are speculations and we have no enough knowledge on these aspects because of limited number of published cases. In most of the published studies LDD is asymptomatic. In the symptomatic patients, the clinical features are usually related to the mass effect of the lesion in the posterior fossa causing hydrocephalus, brainstem compression, displacement of cerebellar tonsils or any combinations of the three. ,, Hydrocephalus as a presenting feature is frequent in patients with LDD.  The incidence and degree of hydrocephalus may vary and depend on the size and location of the lesion. Cases of LDD with severe hydrocephalus have been reported. Placement of a shunt or resection of the lesion, or both can be the alternative surgical treatments. Most of the authors had chosen the mass excision as a first step. , We have chosen the mass-targeted surgery. Hydrocephalus and cerebellar signs resolved after surgery.
Chiari malformation in patients with LDD has been well described.  But, the incidence is unknown. In our patient, tonsils reached up to the C1 segment without syringomyelia and it did not cause any neurological signs and symptoms. Clinical manifestations are commonly include long-standing history of neurological symptoms related to raised intracranial pressure, cerebellar involvement, or symptoms related to syringomyelia. For Chiari malformation, surgery is recommended at correcting the lesion responsible for the formation of the syrinx.
The management of the patients with LDD is controversial. The options include observation, biopsy, or surgical resection. , Symptomatic patients are the surgical candidates and surgery may be indicated for histopathology diagnosis in asymptomatic patient. Because of rarity of the lesion, the rate of growth of the mass in long-term observation, the recurrence rate after a partial or total removal of the mass, and the chance of malignt transformation have not been well studied in large series. If radical tumor resection is not possible, or in asymptomatic patients diagnosed incidentally by MRI, conservative strategy can be justified.  In our case, we thought the main problem was obstructive hydrocephalus. We performed excision of the lesion located at the left cerebellar hemisphere. The patient recovered after total resection of the the left cerebellar lesion with the improvement of headache. Cerebellar signs became less intense following surgery. Some authors have reported no recurrence of the lesion after several years of total resection.  Limited numbers of patients with recurrence were reported after initial surgery.  The recurrence of the lesion in these patients was attributed to incomplete resection of the lesion during the first surgery. Recurrence possibility of the lesion necessitates long-term follow-up. [6,8] Adjunctive treatment modality such as radiotherapy remains still unclear.
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