Bilateral Cerebellar Dysplastic Gangliocytomas (Lhermitte Duclos Disease) with Cerebellar Ectopia and Presyrinx Cord Changes - Neurotalk
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The Neuroradiology Journal 19: 717-721, 2006 www. centauro. it
Bilateral Cerebellar Dysplastic Gangliocytomas
(Lhermitte Duclos Disease) with Cerebellar
Ectopia and Presyrinx Cord Changes
A Case Report
A.S. PURI, A. GARG, N.K. MISHRA, S.B. GAIKWAD, V.S. MEHTA
All India Institute of Medical Sciences; New Delhi, India
Key words: Lhermitte Duclos disease, dysplastic gangliocytoma of cerebellum, LDD, presyrinx, syringomyelia, cerebellar
neoplasm
SUMMARY – Lhermitte-Duclos disease (LDD) is a rare cerebellar lesion with features of both mal-
formation and benign neoplasm. However, the fundamental nature of the entity, its pathogenesis,
and the exact genetic alterations remain unknown. We describe a rare case of bilateral LDD with
cerebellar ectopia and presyrinx spinal cord changes. Bilaterality of lesions should argue against a
neoplastic origin and support a hamartomatous origin.
Introduction MR examination (1.5 T Avanto, Siemens, Er-
langen; Germany) disclosed well circumscribed
Lhermitte-Duclos disease (LDD) is a cerebel- bilateral cerebellar masses with alternating
lar lesion, characterized by an overgrowth of layers, which appeared isointense and hypoin-
cerebellar ganglion cells which replace granu- tense relative to the normal brain on T1-WI
lar cells and Purkinje cells. The nature of LDD, (figure 1A); and isointense and hyperintense,
whether neoplastic, dysplastic, or hamartoma- on T2-weighted images (figure 1B). These bi-
tous, is still not exactly understood 2,8,14. Mag- lateral cerebellar masses had restricted diffu-
netic resonance imaging is the diagnostic mo- sion on diffusion-weighted images (figures 1C,
dality of choice and usually distinguishes the D). There was mass effect on the fourth ven-
LDD by its characteristic “striated or lami- tricle with resulting hydrocephalus, tonsillar
nated pattern”. Bilateral symmetrical cerebel- ectopia and T2-hyperintensity with the cervical
lar lesion will favor a non-neoplastic etiology. and dorsal spinal cord, which is likely to be a
We report a rare case of bilateral LDD with presyrinx state (figures 1E, F).
cerebellar ectopia and presyrinx spinal cord He underwent ventriculoperitoneal shunt
changes. surgery. His headache and visual blurring im-
proved.
Case Report
Discussion
A 24-year-old man had a seven month history
of insidious-onset gradually worsening head- Lhermitte Duclos disease (LDD) has been
aches and blurred vision. Neurologic examina- classified as a WHO grade 1 tumor and “dys-
tion revealed a mild dysmetria and dysdiado- plastic gangliocytoma” is often used as a syno-
chokinesia on the right, with imbalance. Mild, nym 1,16. However, there is still controversy sur-
bilateral papilledema was present. No features rounding the exact nature of the lesion.
suggestive of Cowden disease were found. Magnetic resonance imaging is the diagnos-
717Bilateral Cerebellar Dysplastic Gangliocytomas (Lhermitte Duclos Disease) with Cerebellar Ectopia and Presyrinx Cord Changes A.S. Puri A B C D 718
www. centauro. it The Neuroradiology Journal 19: 717-721, 2006
E F
Figure 1 A, B T1-WI scans. A) Bilateral cerebellar masses with alternating layers, which appear isointense and hypointense
relative to the normal brain. On T2-weighted images (B) the lesions are well circumscribed, have high signal intensity and a
unique striated pattern with isointense bands within the area of hyperintensity. There is mass effect on the fourth ventricle with
hydrocephalus and tonsillar ectopia. The axial diffusion-weighted image (C) demonstrates high signal intensity within the lesion.
On the corresponding ADC map (D), the lesion demonstrates restricted diffusion. Sagittal T1-WI (E) and T2-WI (F) show tonsillar
ectopia and T2-hyperintensity with the cervical and dorsal spinal cord, which is likely to be presyrinx state (F,G).
719Bilateral Cerebellar Dysplastic Gangliocytomas (Lhermitte Duclos Disease) with Cerebellar Ectopia and Presyrinx Cord Changes A.S. Puri
tic modality of choice and reveals characteristic the granular cell layer and migrational arrest
non-enhancing gyriform patterns with enlarge- of the granular cells within the molecular layer
ment of cerebellar folia. A non-enhancing mass in 6
. The few cases of recurrent lesions following
the posterior fossa with unilateral hemispheric surgical resection reported in the literature
expansion, hypointense on T1-weighted images suggest a neoplastic origin 4,6,18, whereas immu-
and hyperintense on T2-weighted images, with nohistochemical and molecular findings and
parallel linear striations on the surface of the the association with Cowden disease favor a
lesion, should be considered specific for LDD in hamartomatous origin 11.
a middle-aged adult 2. On T2-weighted images Typically the disease is unilateral, with a
the lesions are well circumscribed and have a predilection for the left rather than the right
unique striated pattern with isointense bands cerebellar hemisphere. Bilateral dysplastic cer-
within the area of hyperintensity. The index ebellar gangliocytomas have not been described
case had similar findings on MR examination. in the literature, thus our case is unique in
Though there is no histological confirmation of that respect. Bilaterality of lesions should ar-
diagnosis in our case, the uniqueness of these gue against a neoplastic origin and supports a
imaging characteristics makes it possible to di- hamartomatous origin.
agnose the disease preoperatively on the base Decompression of the ventricular system is
of MRI and obviates the need for biopsy. In the immediate goal of therapy in virtually all
the index case, lesions showed restricted dif- symptomatic cases, with most patients under-
fusion as reported previously in patients with going complete or partial surgical resection of
LDD. Diffusion restriction may reflect the his- the mass. Today, more than 100 cases have
topathological finding of increased number and been reported in the literature 3. Although most
size of ganglion cells replacing the granular and patients do well following surgical resection,
Purkinje cell layers 7. Lhermitte-Duclos disease some have recurrence of their disease even
(LDD) is a hamartomatous overgrowth of cer- after a prolonged disease-free interval 3,4,10-12,18.
ebellar ganglion cells, which replace granular Accordingly, long-term follow-up is required in
cells and Purkinje cells. In recent years several these patients 3.
cases involving the association between LDD LDD associated with syringomyelia has been
and Cowden’s syndrome (CS), an autosomal reported in three patients studied with MRI
dominant condition characterized by multiple 5,13,17
. The index case also had presyrinx changes
hamartomas and neoplastic lesions in skin in the cervical and dorsal cord. Such changes
and internal organs, have been reported 15. We can be explained by inferior displacement of
evaluated blood flow and oxygen metabolism in the tonsils and obstruction at the level of the
a patient with Lhermitte-Duclos disease using foramen magnum causing alternation of CSF-
brain positron emission tomography. The le- flow dynamics and syrinx formation; a similar
sion showed increased blood flow, reduced oxy- mechanism is seen in cases with Chiari malfor-
gen extraction fraction and normal metabolic mation and Dandy-Walker cyst with associated
rates of oxygen. These findings suggest that syrinx. We believe this finding has been under-
lesions of Lhermitte-Duclos disease may con- reported because of the lack of spinal MR in
stitute hamartoma or hypertrophy rather than most of the cases.
neoplasm 9. MRS examination had demonstrated reduced
The pathogenesis of LDD has remained elu- ratios in NA/Cho and NA/Cr in LDD which
sive. The histogenesis of dysplastic cerebellar could be due to the apparent lack of neuronal
gangliocytoma is unclear, with evidence sup- architecture and the presence of embryonic
porting both hamartomatous and neoplastic neural tissue which does not express NA, indi-
origins 1. Possible explanations supporting a cating more favourably a ‘benign’ hamartoma
hamartomatous lesion include hypertrophy of rather than a tumor 8.
720www. centauro. it The Neuroradiology Journal 19: 717-721, 2006
References
1 Kleihues P, Cavenee WK eds: Pathology and Genetics 18 Williams DW 3rd, Elster AD, Ginsberg LE et Al: Recur-
of Tumours of the Nervous System. WHO Classifica- rent Lhermitte-Duclos disease: report of two cases and
tion of Tumours. Lyon: IARC Press 2000: 235-7. association with Cowden’s disease. Am J Neuroradiol
2 Klisch J, Juengling F, Spreer J et Al: Lhermitte-Du- 13: 287-90, 1992.
clos disease: assessment with MR imaging, positron
emission tomography, single-photon emission CT, and
MR spectroscopy. AJNR Am J Neuroradiol 22: 824-30,
2001.
3 Kulkantrakorn K, Awwad EE, Levy B et Al: MRI in
Lhermitte-Duclos disease. Neurology 48: 725-31, 1997.
4 Marano SR, Johnson PC, Spetzler RF: Recurrent Lher-
mitte-Duclos disease in a child. Case report. J Neuro-
surg 69: 599-603, 1988.
5 Marcus CD, Galeon M, Peruzzi P et Al: Lhermitte-Du-
clos disease associated with syringomyelia. Neuroradi-
ology 38: 529-31, 1996.
6 Meltzer CC, Smirniotopoulos JG, Jones RV: The stri-
ated cerebellum: an MR imaging sign in Lhermitte-Du-
clos disease (dysplastic gangliocytoma). Radiology 194:
699-703, 1995.
7 Moonis G, Ibrahim M, Melhem ER: Diffusion-weighted
MRI in Lhermitte-Duclos disease: report of two cases.
Neuroradiology 46: 351-4, 2004.
8 Nagaraja S, Powell T, Griffiths PD et Al: MR imaging
and spectroscopy in Lhermitte-Duclos disease. Neuro-
radiology 46: 355-8, 2004.
9 Ogasawara K, Beppu T, Yasuda S et Al: Blood flow and
oxygen metabolism in a case of Lhermitte-Duclos dis-
ease: results of positron emission tomography. J Neu-
rooncol 55: 59-61, 2001.
10 Reeder RF, Saunders RL, Roberts DW et Al: Magnetic
resonance imaging in the diagnosis and treatment of
Lhermitte-Duclos disease (dysplastic gangliocytoma of
the cerebellum). Neurosurgery 23: 240-5, 1988.
11 Robinson S, Cohen AR: Cowden disease and Lhermitte-
Duclos disease: characterization of a new phakomato-
sis. Neurosurgery 46: 371-83, 2000.
12 Roski RA, Roessmann U, Spetzler RF et Al: Clinical
and pathological study of dysplastic gangliocytoma.
Case report. J Neurosurg 55: 318-21, 1981.
13 Sabin HI, Lidov HG, Kendall BE et Al: Lhermitte-Du-
clos disease (dysplastic gangliocytoma): a case report
with CT and MRI. Acta Neurochir 93: 149-53, 1988.
14 Van Calenbergh F, Vantomme N, Flamen P et Al:
Lhermitte-Duclos disease: 11C-methionine positron
emission tomography data in 4 patients. Surg Neurol
65: 293-7, 2006.
15 Vantomme N, Van Calenbergh F, Goffin J et Al: Lher-
mitte-Duclos disease is a clinical manifestation of Cow-
den’s syndrome. Surg Neurol 56: 201-5, 2001.
Ajay Garg M.D.
16 Verheggen R, Bruhn H, Schroder BU et Al: Lhermitte- Department of Neuroradiology
Duclos disease: a critical appraisal of different radio- All India Institute of Medical Sciences
logic methods. Eur J Radiol 19: 21-4, 1994. Ansari Nagar
17 Vinchon M, Blond S, Lejeune JP et Al: Association of New Delhi - 110029 Delhi
Lhermitte-Duclos and Cowden disease: report of a new India
case and review of the literature. J Neurol Neurosurg Tel.: 91-11-26589393
Psychiatry 57: 699-704, 1994. E-mail: ajaygarg1971@yahoo.com
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