Radiol Oncol 2006; 40(1): 17-21.
case report
Lhermitte-Duclos disease and pregnancy
Artur Franko1, Izidora Holjar-Erlić1, Damir Miletić1, Oleg Petrović2
1Department of Radiology and 2Clinic of Gynaecology and Obstetrics, Clinical Hospital Rijeka,
Croatia
Background. Lhermitte-Duclos disease or dysplastic gangliocytoma of the cerebellum is a rare disorder that can cause progressive mass effects to the structures occupying posterior fossa. Magnetic resonance imaging is a diagnostic modality of choice demonstrating characteristic non-enhancing gyriform pattern with the en-largement of cerebellar folia, hypointense on T1 and hyperintense on T2 weighted magnetic resonance images.
Case report. The authors present a case of 37-year old woman with previously unknown Lhermitte-Duclos disease in the third trimester of pregnancy from the first signs of the disease to the first six months after de-livery.
Conclusions. More experience will be needed with this disease in pregnancy and post delivery period to recommend pregnancy for women with such condition. However, this case shows that a pregnant woman with Lhermitte-Duclos disease could reach full-term pregnancy and deliver a healthy child, without life-threatening risk.
Key words: cerebellar neoplasms; ganglioneuroma
Introduction
Dysplastic cerebellar gangliocytoma (Lher-mitte-Duclos disease) is a rare disorder, char-acterized by a slowly progressive unilateral neoplastic mass of the cerebellar cortex. The histopathological findings of Lhermitte-Duclos disease (LDD) include the widening of
Received 5 January 2006 Accepted 15 February 2006
Correspondence to: Izidora Holjar-Erlić, MD, Department of Radiology, Clinical Hospital Rijeka, Krešimirova 42, 51000 Rijeka, Croatia, Tel/Fax: +385(51)651-386; E-mail: izidora.holjar@ri.htnet.hr
the molecular layer, which is occupied by abnormal ganglion cells, absence of the Purkinje cell layer and hypertrophy of the granulan cell layer. Magnetic resonance imag-ing (MRI) is a diagnostic modality of choice and reveals a characteristic non-enhancing gyriform pattern with the enlargement of cerebellar folia. The lesion is hypointense on T1- and hyperintense on T2-weighted mag-netic resonance images.1 In patients with a posterior fossa tumour suggestive of a dys-plastic gangliocytoma on neuroimaging stu-dies, a pathologic confirmation is necessary.2 Dysplastic cerebellar gangliocytoma is commonly associated with the progressive mass effect in the posterior fossa and is typi-
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Franko A et al. / Lhermitte-Duclos disease and pregnancy
cally presented with headaches, cerebellar dysfunction, occlusive hydrocephalus and cranial nerve palsies. The disease usually manifests in young adults, but the age at pres-entation ranges from birth to the sixth decade. There is no sex predilection. The therapy consists of decompression of the pos-terior fossa by a total surgical removal of the tumour mass.3 A problem of surgical removal of these tumours is to miss the borderline be-tween tumour and healthy cerebellum tissue so that the incomplete removal of the tumour is not rare.4
To our knowledge there were no reports of LDD in pregnancy. In our case report we in-tend to present the potential influence of LDD on pregnancy and delivery.
Case report
A 37-year-old woman was admitted at the Clinic of Gynaecology and Obstetrics in the 27th week of her first pregnancy for monitoring and programming the childbirth. Hospitalisation and programmed delivery by caesarean section has been recommended from her neurosurgeon before the control MRI was preformed, because she had a histo-ry of partial cerebellar tumour resection. Namely, 19 years ago, CT was performed due to the cerebellar dysfunction and the in-creased intracranial pressure (intensive headaches, nausea, dizziness and optical nerve oedema). CT had shown a large mass of the right cerebellar hemisphere suspicious of gliomal tumour and she underwent the neu-rosurgical extirpation. Only a partial resec-tion was preformed with the implantation of ventriculoatrial shunt. The histopatological findings included a widening of cerebellar cortex due to hypercellular granular layer without a clear border with thin molecular layer and presence of large Purkinje cells. The presence of true neoplastic tissue was not found and regular CT controls were recom-Radiol Oncol 2006; 40(1): 17-21.
Figure 1. Axial FLAIR-weighted image (IR, 6741/ 110/1700) reveals ill-defined area of the increased signal intensity occupying the right cerebellar hemi-sphere with perifocal white matter oedema (arrow).
mended. She constantly suffered from headache and dizziness in exertion when she had the opportunity to do MRI eight years ago. After this first MRI which described tu-mourous mass in the pontocerebellar angle and the right cerebellar hemisphere, a new re-section with drainage was recommended when she was 29-years old, but our patient did not accept surgery. The symptoms were stable during pregnancy when in the third trimester became more frequent and aggra-vated. The neurosurgeon recommended MRI before making decision for the route of child delivery. MRI was performed in the 29th week of pregnancy showing the expansive lesion of the right cerebellar hemisphere with charac-teristic features (Figures 1 and 2).
Nineteen years from her first symptoms our radiologist, based on typical MRI findings and history, concluded that it must have been Lhermitte-Duclos disease. The neurosurgeon recommended delivery by caesarean section and our patient delivered a healthy male child after 40 weeks of pregnancy. After delivery she reported the aggravation of symptoms: headache, dizziness, disturbance of balance
Franko A et al. / Lhermitte-Duclos disease and pregnancy
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Figure 2. Coronal T2-weighted image (SE 4350/88) shows a large mass in the right cerebellar hemisphere with the incomplete distortion of the cerebellar folia (arrowhead).
and paresthesia in both arms. She suffered from this discomforts for six months when she went on control MRI. Control MRI was unchanged, but she accepted the operation at that time. Patohistological findings con-firmed our radiological diagnosis.
Discussion
Tumours of ganglion cells are very rare. They include: gangliocytoma, ganglioneurinoma, Lhermitte-Duclos disease and dysembry-oplastic neuroepithelial tumour. Some con-sidered them to be dysplasias rather than true neoplasm; others refer to them as malforma-tions.5 Lhermitte-Duclos disease is a rare cerebellar lesion with features of both malformation and benign neoplasm. MR imaging usually distinguishes the LDD by its charac-teristic “tiger-striped” appearance (Figure 3).6 In recent years several cases involving the association between LDD and Cowden’s syn-drome (CS), an autosomal dominant condi-tion characterized by multiple hamartomas and neoplastic lesions in the skin and inter-
Figure 3. Axial T2-weighted image (SE 4350/88) demonstrates a typical “tiger-striped” pattern of the lesion with compression of the fourth ventricle.
nal organs were reported. These included mu-cocutaneous lesions, acral keratosis, thyroid adenoma, fibrocystic disease ovarian cyst, in-testinal polyposis, and arteriovenous malformation. Patients with LDD should receive a complete dermatological and systemic screening, because some of the lesions can develop into malignant tumors.7 The associa-tion between Lhermitte-Duclos disease and Cowden disease has been under-recognized and under-reported. The recognition of this association has a direct clinical relevance be-cause a diligent long-term follow up monitoring of individuals with Lhermitte-Duclos dis-ease and Cowden disease may lead to the ear-ly detection of malignancy.8 In approximately 40% of documented cases of LDD, CS can be diagnosed, and in 60% of cases LDD appears to occur sporadically.9 Patients diagnosed with Lhermitte-Duclos disease must be ade-quately evaluated for Cowden’s syndrome.10 We presented a 37-year-old pregnant woman who had an isolated form of LDD be-ginning in her teenage period (16 years). During pregnancy she was under the permanent supervision of her obstetrician and no
Radiol Oncol 2006; 40(1): 17-21.
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obstetric complications were obtained. Pregnancy is an aggravating factor for brain tu-mours acting by three mechanisms: accelera-tion of tumour growth, increase of peritumoral oedema and development of immunotolerance to foreign tissue agents. There may be a relation between pregnancy hormones. According to Depret-Mosser et al.11 induced therapeutic abortion and caesarean section are no longer routinely performed, and now being replaced by vaginal delivery with a systematic instrumental extraction. The presence of an intracra-nial neoplasm during pregnancy has a serious implication for the anaesthetic management of labour and delivery. The physiological changes of pregnancy and labour are potentially haz-ardous to women with intracranial neoplasm, but the provision of adequate pain relief dur-ing labour reduces the risk for the mother.12 The other group of authors recommended cae-sarean delivery with the patient under general anaesthesia, followed by the immediate neuro-surgical decompression in neurologically un-stable patients to minimize temporal lobe or cerebellar herniation.13 The delivery should be advocated in the early third trimester after documentation of foetal pulmonary maturity. In our case we had a neurologically stabile patient who reached the full term pregnancy. The obstetrician took into consideration her age (37 years), reported deterioration of symptoms in exertion and recommended neurosurgical examination before making his decision for elective caesarean delivery.
The way of delivery is still a question and should be solved between the obstetrician and the neurosurgeon for each patient indi-vidually. More experience with LDD in preg-nancy is necessary for making a solid attitude about a way of delivery in neurologically stabile patients. The management of brain tu-mours should be tailored to the individual patient. There may be a relation between preg-nancy hormones and the rate of brain tumour growth mediated through specific intracellu-lar receptors.14
More experience will be needed with this disease in pregnancy and post delivery period to recommend pregnancy for women with this condition. However, this case shows that a pregnant woman with LDD could reach full-term pregnancy and deliver a healthy child, without serious risk for her life.
References
1.   Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand 2002; 105: 137-45.
2.   Chen KS, Hung PC, Wang HS, Jung SM, Ng SH. Medulloblastoma or cerebellar dysplastic ganglio-cytoma(Lhermitte-Duclos disease). Pediatr Neurol 2002; 27: 404-6.
3.   Nowak DA, Trost HA, Porr A, Stolzle A, Lumenta CB. Lhermitte-Duclos disease (Dysplastic ganglio-cytoma of the cerebellum). Clin Neurol Neurosur 2001; 103: 105-10.
4.   Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM. Dysplastic gangliocytoma of the cerebel-lum:Rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochirurgica 2003; 145: 509-12.
5.   de Arriba-Villamor C, Martinez-Mata A, Espinosa-Mogro H, Rubio-Viguera V. Tumors of the ganglion cells. Rev Neuroradiol 1998; 27: 1008-11.
6.   Klish J, Juengling F, Spreer J, Koch D, Thiel T, Buchert M, et al. Lhermitte-Duclos disease: Assessment with MR imaging, positron emission tomography, single-photon emission CT and MR spectroscopy. Am J Neuroradiol 2001; 22: 824-30.
7.   Vantomme N, Van Calenbergh F, Goffin J, Sciot R, Demaerel P, Plets C. Lhermitte-Duclos disease is a clinical manifestation of Cowden`s syndrome. Surg Neurol 2001; 56: 201-4.
8.   Robinson S, Cohen AR. Cowden disease and Lhermitte-Duclos disease: Characterization of a new phakomatosis. Neurosurgery 2000; 46: 371-83.
9. Murata J, Tada M, Sawamura Y, Mitsumory K, Abe
H, Nagashima K. Dysplastic gangliocytoma (Lhermitte-Duclos disease) associated with Cowden disease: report of a case and review of the literature for the genetic relationship between the two disease. J Neuro-Oncol 1999; 41: 129-36.
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10. Cummings TJ, Ebert RH, Provenzale J, McLendon RE. A 16 year old female with a cerebellar mass. Brain Pathol 2001; 11: 391-3.
11. Depret-Mosser S, Jomin M, Monnier JC, Vinatier D, Bouthors-Ducloy AS, Christiaens JL, et all.Cerebral tumors and pregnancy. Apropos of 8 cases. J Gyneacol Obstet Biol Reprod 1993; 22: 71-80.
12. Finfer SR. Management of labour and delivery in patients with intracranial neoplasms. Brit J Anaesth 1991; 67: 784-7.
13. Tewari KS, Cappuccini F, Asrat T, Flamm BL, Carpenter SE, DiSaia PJ, et al. Obstetric emergien-ces precipitated by malignant brain tumors. Am J Obstet Gynecol 2000; 185: 1215-21.
14. Isla A, Alvarez F, Gonzalez A, GraciaGrande A, PerezAlvarez M, GarciaBlazquez N. Brain tumor and pregnancy. Obstret Gynecol 1997; 89(1): 19-23.
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Slovenian abstracts
Radiol Oncol 2005; 40(1): 17-21.
Lhermitte-Duclosova bolezen in nosečnost
Franko A, Holjar-Erloć I, Miletić D, Petrović O
Izhodišča. Lhermitte-Duclosova bolezen ali displatični gangliocitom malih možganov je redka bolezen, ki lahko povzroča napredujočo tumorsko rast. Ugotovimo jo z magnetno resonanco, ki pokaže značilne neobarvane girusne spremembe, različne intenzitete na T1 In T2 magnetnih slikah.
Prikaz primera. Opisujemo 37-letno bolnico, ki smo ji dokazali Lhermitte-Duclosovo bolezen v tretjem tromesečju nosečnosti.
Zaključki. Prikazan primer kaže, da lahko nosečnica z Lhermitte-Duclosovo boleznijo brez življenjskega tveganja donosi in rodi zdravega otroka. Potrebnih pa je več izkušenj, da bi to opažanje lahko posplošili.
Radiol Oncol 2006; 40(1): 57-62.