The Lhermitte-Duclos disease: a rare bilateral cerebellar location of a rare pathology
Mehdi Borni1,&, Brahim Kammoun1, Fatma Kolsi1, Souhir Abdelmouleh1, Mohamed Zaher Boudawara1
1Department of Neurosurgery-UHC Habib Bourguiba, Sfax, Tunisia
Mehdi Borni, Department of Neurosurgery-UHC Habib Bourguiba, Sfax, Tunisia
Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized
by a slowly progressive unilateral tumour mass of the cerebellar cortex.
It is probably hamartomatous, although the exact pathogenesis remains unknown.
Lhermitte-Duclos disease was recently encountered to be part of a multiple
hamartoma-neoplasia complex (Cowden's syndrome). It typically presents
young adults, although it has been encountered at all ages. We present
the case of bilateral cerebellar location of this pathology in a 50-year-old
man presented with a progressive onset and worsening of headaches accompanied
by nuchal rigidity, photophobia and nausea awakening each morning. Upon
physical examination, the patient was awake with a discrete right vestibular
made of positive Romberg without nystagmus. Magnetic Resonance Imaging
(MRI) was performed and revealed salient "tiger stripe" appearance of the
bilateral cerebellar cortex relevant to a Lhermitte-Duclos disease.
Dysplastic gangliocytoma or Lhermitte-Duclos disease is a rare disorder characterized by a slowly progressive unilateral tumour mass of the cerebellar cortex. It is probably hamartomatous, although the exact pathogenesis remains unknown. Lhermitte-Duclos disease was recently encountered to be part of a multiple hamartoma-neoplasia complex (Cowden's syndrome). It typically presents in young adults, although it has been encountered at all ages. Interestingly the genetics of childhood-onset appears different to the more common adult onset form.
Patient and observation
It is about a 50-year-old man with no particular medical history who was admitted
for a progressive onset and worsening of headaches over 4 months with by nuchal
rigidity, photophobia and nausea awakening each morning without epilepsy or
other localization signs. Upon physical examination, the patient was conscious
with a discreet right vestibular syndrome made of positive Romberg without
nystagmus or motor palsy.
Cerebral MRI (Figure 1)
was performed showing a first right cerebellar convexity lesion which was hyper
intense on T2 weighted images containing small zones of necrosis in hyper intense
T2 weighted signal and discrete hyper intense T1. This lesion is enhanced heterogeneously
and moderately and surrounded by an edematous reaction. The second lesion was
located in the other cerebellar lobe having the same signal as the right one
and extending to the pontocerebellar angle displacing the acoustico-facial bundle
and filling the pontocerebellar cistern pushing back the brainstem and without
endo-canalar extension. The spectroscopy was performed in both of the 2 lesions
revealing a choline peak and N-Acety Aspartate (NAA) drop.
The Lhermitte-Duclos disease, or dysplastic cerebellar gangliocytoma, is an unusual
tumour arising from the cerebellar cortex. It most frequently presents in the
third and fourth decades of life [1, 2]
but the age at clinical manifestation ranges from birth 
to the sixth decade . There is no obvious sex preponderance.
Regarding the nature of the disease, the original opinion expressed by Lhermitte
and Duclos was that the tumour was a combination of a congenital malformation
and a neoplasm arising from ganglion cells . Other early
observers of this entity suggested the lesion to be a "neurocystic blastoma" , "hamartoma" or "hyperplasia" .
Lhermitte and Duclos noted enlarged cerebellar folia containing circumscribed
regions of abnormal ganglion cells . They regarded
the lesion as a combination of a ganglion cell neoplasm and a malformation
originating from precursors of Purkinje cells. Bielschowsky and Simons suggested
that the lesion is "an experiment of nature" derived from a local agenesis
of the superficial cerebellar cortex, which resulted in a tumour composed of
neuroblasts . The histopathological differential diagnosis
includes glioma, which might be confused with a very cellular dysplastic gangliocytoma
and ganglion cell tumour . The abnormal neurones found
in Lhermitte-Duclos lesions are larger, rounder and more uniform in their morphological
appearance than glioma cells. Neoplastic ganglion cells in gliomas diffusely
infiltrate the gray matter, while in dysplastic gangliocytomas the abnormal
ganglion cells are often clustered together. The association between Lhermitte-Duclos
disease and other neoplasia is called Cowden syndrome which is an autosomal
dominant hereditary cancer syndrome, characterized by mucocutaneous lesions
and other systemic hamartomas associated with a high incidence of breast, thyroid
and genitourinary malignancies . Recently, thorough
investigations support the contention that Lhermitte-Duclos disease and Cowden
syndrome are part of a single spectrum best classified as a single phacomatosis
. Clinically, the duration of symptoms ranges from a
few months to more than 10years . Typically, the cause
of clinical presentation is a posterior fossa mass lesion with headaches, cerebellar
ataxia and visual disturbances and other cranial nerve palsies [1, 9].
Signs and symptoms of increased intracranial pressure, such as headaches, nausea
and vomiting, papilloedema, mental disturbances and loss of consciousness occur
in a later stage of the disease caused by the progressive mass effect of the
growing tumour [1, 9]. MRI is certainly
the imaging modality of choice today which shows a hypointense on T1-weighted
images and show a very mild or no enhancement. The lack of contrast enhancement
suggests insignificant disturbances of the blood-brain barrier and/or missing
of extracellular oedema. On T2-weighted images the lesions present with a well
circumscribed high signal intensity and an unique striated pattern with isointense
bands within the area of hyper intensity, indicating the structures of widened
gyri and consequently displaced sulci of the cerebellar cortex .
Surgery is definitely the therapeutic procedure commonly performed for the
treatment [1, 9]. A sub-occipital approach
is the surgical procedure generally performed [1, 9]
and additional permanent ventricular shunt drainage occasionally preceded or
followed tumor resection . The absence of tumor limits
in the depth of the cerebellar hemisphere constitutes the major technical problem
during surgery. The radiation therapy should not be considered when in toto
excision of the tumor and complete remission may be achieved .
Dysplastic gangliocytoma of the cerebellum is of benign behaviour and its incidence is extremely rare. Its origin is still debatable. This lesion is hypo intense on T1- and hyper intense on T2-weighted MRI. Recognition of the disease is of particular importance, as the frequent but under-reported coexistence with Cowden syndrome, should prompt thorough clinical and apparative investigation to detect or exclude concomitant malignancies.
The authors declare no competing interests.
All authors contributed to the conception and design, acquisition of data and its analysis and interpretation. They drafted the article and did a critical revision for intellectual content and finally approved the version to be published.
All authors would sincerely like to thank the company HANNIBAL MEDICAL DISTRIBUTION® for
its generous funding of this work and for its collaboration.
Figure 1: cerebral
MRI: two cerebellar lesions: iso signal weighted T1, hyper signal
weighted T2, seat of small area of necrosis, heterogeneously
enhanced, with hyper signal
diffusion without decrease of the ADC and surrounded by oedema
- Oppenheimer DR. A benign 'tumour' of the cerebellum: report on two cases of diffuse hypertrophy of the cerebellar cortex with a review of nine previously reported cases. J Neurol Neurosurg Psychiatry. 1955; 18(3): 199-213. PubMed | Google Scholar
- Bielschowsky M, Simons A. Üeber diffuse Hamartome (Ganglioneurome) des Kleinhirns und ihrer Genese. J Psychol Neurol. 1930; 41: 50-75.
- Roessmann U, Wongmongkolrit T. Dysplastic gangliocytoma of cerebellum in a newborn. J Neurosurg. 1984 Apr; 60(4): 845-7. PubMed
- Cessaga EC. Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum): report of two cases. Neurosurg Rev. 1980; 3(2): 151-8. PubMed | Google Scholar
- Lhermitte J, Duclos P. Sur un ganglioneurome diffus du cortex du cervelet. Bull Assoc Fr Etud Cancer. 1920; 9: 99-107.
- Duncan D, Snodgrass SR. Diffuse hypertrophy of the cerebellar cortex (Myelinated Neurocytoma). Arch NeurPsych. 1943; 50(6): 677-684. Google Scholar
- Burger PC, Scheithauer BW. Tumours of the central nervous system. In: ROSAI J, ed, Atlas of tumour pathology, Washington, DC: Armed Forces Institute of Pathology. 1994; 3rd edn: 176-8.
- Hanssen AM, Fryns JP. Cowden syndrome. J Med Genet. 1995; 32(2): 117-9. PubMed
- Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: characterization of a new phakomatosis. Neurosurgery. 2000; 46(2): 371-83. PubMed | Google Scholar
- Leech RW, Christoferson LA, Gilbertson Rl. Dysplastic gangliocytoma (Lhermitte-Duclos disease) of the cerebellum. J Neurosurg. 1977; 47(4): 609-12. PubMed
- Carter JE, Merren MD, Swann KW. Preoperative diagnosis of Lhermitte-Duclos disease by magnetic resonance imaging: case report. J Neurosurg. 1989; 70(1): 135-7. PubMed
- Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm. Acta Neurol Scand. 2002; 105(3): 137-145. PubMed | Google Scholar