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CC BY-NC-ND 4.0 · Arquivos Brasileiros de Neurocirurgia: Brazilian Neurosurgery 2020; 39(02): 132-135
DOI: 10.1055/s-0039-3402491
Case Report | Relato de Caso
Thieme Revinter Publicações Ltda Rio de Janeiro, Brazil

A rare WHO Grade I Lesion of the Posterior Fossa with Recurrence Biological Behavior - Dysplastic Gangliocytoma of the Cerebellum: Case Report

Uma rara lesão da fossa posterior e grau I da OMS com comportamento biológico de recorrência - Gangliocitoma displásico de cerebelo: Relato de Caso
Leandro Pelegrini de Almeida 
1   Department of Pathology, Hospital Cristo Redentor, Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil
,
Felipe Lourezon Schiavo 
1   Department of Pathology, Hospital Cristo Redentor, Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil
,
Samir Cezimbra dos Santos 
1   Department of Pathology, Hospital Cristo Redentor, Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil
,
William Mazzucco Nesi 
1   Department of Pathology, Hospital Cristo Redentor, Grupo Hospitalar Conceição, Porto Alegre, RS, Brazil
,
Eduardo Cambruzzi 
2   Department of Pathology, Santa Rita Hospital, Complexo Hospitalar Santa Casa, Porto Alegre, RS, Brazil
› Author Affiliations
Further Information

Publication History

20 March 2019

22 October 2019

Publication Date:
06 April 2020 (online)

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Abstract

Dysplastic gangliocytoma of the cerebellum (DGC) or Lhermitte-Duclos Disease is a rare lesion (World Health Organization [WHO] grade I) characterized by thickened folia and replacement of the internal granular layer by abnormal ganglion cells. More commonly, the compromised patients are young adults presenting ataxia, seizures, obstructive hydrocephalus, and increased intracranial pressure. Dysplastic gangliocytoma of the cerebellum is intimately associated with Cowden syndrome, a hereditary disorder caused by a germline mutation in the PTEN tumor suppressor gene on chromosome 10q23. Large neurons of DCG show vesicular nuclei with prominent nucleoli. Expansion of the internal granular layer determines vacuolization of the molecular layer and white matter, which can be related to the bright stripes identified on T2-weighted magnetic resonance imaging. Herein, the authors report a female patient who developed long- time recurrence of DGC and discuss pathological findings and differential diagnosis of this rare cerebellar lesion.

Resumo

O gangliocitoma displásico de cerebelo (GDC) ou a Doença de Lhermitte-Duclos é uma lesão rara (Organização Mundial de Saúde [OMS] grau I) caracterizada por folhas cerebelares espessadas e substituição da camada granular interna por células ganglionares anormais. Mais comumente, os pacientes comprometidos são adultos jovens que apresentam ataxia, convulsões, hidrocefalia obstrutiva e aumento da pressão intracraniana. O GDC está intimamente associado à síndrome de Cowden, um distúrbio hereditário causado por uma mutação da linha germinativa no gene supressor de tumor PTEN no cromossomo 10q23. Os neurônios grandes do GDC mostram núcleos vesiculares com nucléolos proeminentes. A expansão da camada granular interna determina a vacuolização da camada molecular e da substância branca, as quais podem ser relacionadas às faixas brilhantes identificadas na ressonância magnética ponderada em T2. Aqui, os autores relatam uma paciente do sexo feminino que desenvolveu recorrência em longo prazo de GDC e discutem os achados patológicos e o diagnóstico diferencial desta rara lesão cerebelar.

Keywords

dysplastic gangliocytoma of the cerebellum - lhermitte-duclos disease - central nervous system tumors - cowden syndrome - pathology

Palavras-chave

gangliocitoma displásico do cerebelo - doença de lhermitte-duclos - tumores do sistema nervoso central - síndrome de cowden - patologia
 

  • References

  • 1 Uchida D, Nakatogawa H, Inenaga C, Tanaka T. An Unusual Case of Lhermitte-Duclos Disease Manifesting with Intratumoral Hemorrhage. World Neurosurg 2018; 114: 326-329
    CrossrefPubMedGoogle Scholar
  • 2 Riegert-Johnson DL, Gleeson FC, Roberts M. , et al. Cancer and Lhermitte-Duclos disease are common in Cowden syndrome patients. Hered Cancer Clin Pract 2010; 8 (01) 6
    CrossrefPubMedGoogle Scholar
  • 3 Thomas B, Krishnamoorthy T, Radhakrishnan VV, Kesavadas C. Advanced MR imaging in Lhermitte-Duclos disease: moving closer to pathology and pathophysiology. Neuroradiology 2007; 49 (09) 733-738
    CrossrefPubMedGoogle Scholar
  • 4 Stapleton SR, Wilkins PR, Bell BA. Recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) presenting with subarachnoid haemorrhage. Br J Neurosurg 1992; 6 (02) 153-156
    CrossrefPubMedGoogle Scholar
  • 5 Zhou XP, Marsh DJ, Morrison CD. , et al. Germline inactivation of PTEN and dysregulation of the phosphoinositol-3-kinase/Akt pathway cause human Lhermitte-Duclos disease in adults. Am J Hum Genet 2003; 73 (05) 1191-1198
    CrossrefPubMedGoogle Scholar
  • 6 Yachnis AT, Trojanowski JQ, Memmo M, Schlaepfer WW. Expression of neurofilament proteins in the hypertrophic granule cells of Lhermitte-Duclos disease: an explanation for the mass effect and the myelination of parallel fibers in the disease state. J Neuropathol Exp Neurol 1988; 47 (03) 206-216
    CrossrefPubMedGoogle Scholar
  • 7 Abel TW, Baker SJ, Fraser MM. , et al. Lhermitte-Duclos disease: a report of 31 cases with immunohistochemical analysis of the PTEN/AKT/mTOR pathway. J Neuropathol Exp Neurol 2005; 64 (04) 341-349
    CrossrefPubMedGoogle Scholar
  • 8 Backman SA, Stambolic V, Suzuki A. , et al. Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet 2001; 29 (04) 396-403
    CrossrefPubMedGoogle Scholar
  • 9 Capone Mori A, Hoeltzenbein M, Poetsch M, Schneider JF, Brandner S, Boltshauser E. Lhermitte-Duclos disease in 3 children: a clinical long-term observation. Neuropediatrics 2003; 34 (01) 30-35
    Article in Thieme ConnectPubMedGoogle Scholar
  • 10 Lhermitte J, Duclos P. Sur un ganglioneurome diffus du coertex du cervelet. Bull Assoc Fr Etud Cancer 1920; 9: 99-107
    PubMedGoogle Scholar
  • 11 Pérez-Núñez A, Lagares A, Benítez J. , et al. Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. Acta Neurochir (Wien) 2004; 146 (07) 679-690
    PubMedGoogle Scholar
  • 12 Goto Y, Hashimoto N, Okita Y. , et al. A surgically treated case of Lhermitte-Duclos disease with a precise natural history and high uptake of FDG on PET. J Neurooncol 2010; 97 (03) 445-450
    CrossrefPubMedGoogle Scholar
  • 13 Kimura F, Ueda A, Sato E. , et al. Hereditary breast cancer associated with Cowden syndrome-related PTEN mutation with Lhermitte-Duclos disease. Surg Case Rep 2017; 3 (01) 83
    CrossrefPubMedGoogle Scholar
  • 14 Jiang T, Wang J, Du J. , et al. Lhermitte-Duclos Disease (Dysplastic Gangliocytoma of the Cerebellum) and Cowden Syndrome: Clinical Experience From a Single Institution with Long-Term Follow-Up. World Neurosurg 2017; 104: 398-406
    CrossrefPubMedGoogle Scholar
  • 15 Williams LG, Brimage P, Lechner C, Taylor RL, Masters L, Welgampola MS. Lhermitte-Duclos disease presenting with atypical positional nystagmus. J Clin Neurosci 2014; 21 (09) 1647-1649
    CrossrefPubMedGoogle Scholar
  • 16 Abi Lahoud G, Chalouhi N, Zanaty M, Rizk T, Jabbour P. Association of Lhermitte-Duclos disease and split cord malformation in a child. J Clin Neurosci 2014; 21 (11) 1999-2002
    CrossrefPubMedGoogle Scholar
  • 17 Giorgianni A, Pellegrino C, De Benedictis A. , et al. Lhermitte-Duclos disease. A case report. Neuroradiol J 2013; 26 (06) 655-660
    CrossrefPubMedGoogle Scholar
  • 18 Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm?. Acta Neurol Scand 2002; 105 (03) 137-145
    CrossrefPubMedGoogle Scholar
  • 19 Murray C, Shipman P, Khangure M. , et al. Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review. Australas Radiol 2001; 45 (03) 343-346
    CrossrefPubMedGoogle Scholar
  • 20 Buhl R, Barth H, Hugo HH, Straube T, Mehdorn HM. Dysplastic gangliocytoma of the cerebellum: rare differential diagnosis in space occupying lesions of the posterior fossa. Acta Neurochir (Wien) 2003; 145 (06) 509-512 , discussion 512
    CrossrefPubMedGoogle Scholar
  • 21 Chen XY, Lu F, Wang YM. , et al. PTEN inactivation by germline/somatic c.950_953delTACT mutation in patients with Lhermitte-Duclos disease manifesting progressive phenotypes. Clin Genet 2014; 86 (04) 349-354
    CrossrefPubMedGoogle Scholar
  • 22 Moonis G, Ibrahim M, Melhem ER. Diffusion-weighted MRI in Lhermitte-Duclos disease: report of two cases. Neuroradiology 2004; 46 (05) 351-354
    CrossrefPubMedGoogle Scholar