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Year : 2007  |  Volume : 2  |  Issue : 2  |  Page : 88-89

Rare association of desmoplastic medulloblastoma with anorectal malformation and benign nevii in a 2-year-old child

1 Department of Neurosurgery, Sri Aurobindo Institute of Medical Sciences, Indore - 453 111, MP, India
2 Department of Pediatric Medicine, Sri Aurobindo Institute of Medical Sciences, Indore - 453 111, MP, India

Correspondence Address:
Rakesh Gupta
Department of Neurosurgery, Neuroscience Center, Sri Aurobindo Institute of Medical Sciences (SAIMS), Indore-Ujjain State Highway, Sanwer Road, Indore - 453 111, MP
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/1817-1745.36772

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How to cite this article:
Gupta R, Parihar V, Sanghvi J. Rare association of desmoplastic medulloblastoma with anorectal malformation and benign nevii in a 2-year-old child. J Pediatr Neurosci 2007;2:88-9

How to cite this URL:
Gupta R, Parihar V, Sanghvi J. Rare association of desmoplastic medulloblastoma with anorectal malformation and benign nevii in a 2-year-old child. J Pediatr Neurosci [serial online] 2007 [cited 2023 Nov 30];2:88-9. Available from: https://www.pediatricneurosciences.com/text.asp?2007/2/2/88/36772

   Introduction Top

Medulloblastoma is the most common primary central nervous system tumor in children. The cause of medulloblastoma is unknown. It has been associated with familial cancer syndromes, suggesting a genetic basis of tumor development. Two genetic syndromes, namely, the nevoid basal cell carcinoma (or Gorlin's syndrome) and multiple colonic polyposis (Turcot's syndrome), have been reported to have an increased frequency of medulloblastoma. Desmoplastic variant constitutes 10% of childhood medulloblastomas. We report a case of desmoplastic medulloblastoma in a 2-year-old child with an unusual association of anorectal malformation and multiple skin nevii.

   Case History Top

This 2-year-old male child was admitted with complaints of loose motions, vomiting and irritability since 5 days. He had tonic posturing and neck retraction since 2 days. He was born with a high anorectal malformation, for which a three-stage surgery was done by the age of 6 months. At the age of 1 years, he was admitted in the pediatric department with sudden onset flaccid paraparesis with power grade I-II in both lower limb. Cerebrospinal fluid examination performed at that time showed a high cell count (340 cell/mm 3 , predominantly lymphocytes) with normal sugar and protein. MRI dorsal spine showed a small, nodular intramedullary lesion at D7-D8 level, mixed isointense and mild hyperintense on T2-weighted (T2-W) and isointense on T1-weighted (T1-W) images with normal brain screening [Figure - 1]. He was treated on the lines of transverse myelitis and responded well to intravenous methylprednisolone with complete recovery in 3 weeks. On physical examination, there were multiple pigmented nevii all over the body [Figure - 2], opisthotonic posture, spastic quadriparesis and truncal ataxia. MRI of the complete neuraxis was performed. MRI brain showed a large well-defined mass in right half of the posterior fossa, hypointense on T1-W, mildly hyperintense on T2-W with thick peripheral area of mild contrast enhancement [Figure - 3]. Lesion appeared to be extra-axial in location with a broad-base tentorial attachment and marked compression and displacement of cerebellum and brain stem. Another nodule was observed in the right orbit, intraconal, inferior to optic nerve abutting to medial rectus muscle, isointense to skeletal muscle on T1-W and hyperintense on T2-W reported as hemangioma. The screening of spine showed the disappearance of previous intramedullary lesion at D7-D8 level [Figure - 4]. The rest of the spine screening was normal. The patient was operated for the posterior fossa tumor. Right suboccipital retromastoid craniectomy was performed. A well-demarcated, purplish, firm tumor was found in right cerebellum. Complete excision was done. Child recovered well in the postoperative period. Histopathological examination was suggestive of the nodular variant of desmoplastic medulloblastoma. Skin biopsy of the biggest nevus showed its benign nature. Based on the age of the child, chemotherapy was given; however, he developed fatal myelosuppression after the first cycle and succumbed.

   Discussion Top

Medulloblastoma is one of the most common tumors of the posterior fossa, constituting 20-25% of all the pediatric brain tumors. [1] The median age of diagnosis is between 5 and 7 years. There are two presentation peaks in childhood at 3 to 4 years and 6 to 8 years. [1] In children, 7% of these tumors are laterally located; this is in opposition to 30-50% in adults. [2] Desmoplastic variants constitute only approximately 10% of the childhood medulloblastomas. [3]

There are two genetic syndromes strongly associated with the development of medulloblastoma, namely, Turcot's syndrome and Gorlin's syndrome. We reviewed the literature on Gorlin's syndrome, as the occurrence of desmoplastic medulloblastoma in younger children is one of the criteria for making a diagnosis of this syndrome. [4] Gorlin's syndrome is an autosomal dominant disorder characterized by occurrence of multiple nevoid basal cell carcinoma, multiple skeletal anomalies, cutaneous anomalies and developmental delay. [5] Approximately, 5% of children with Gorlin's syndrome develop medulloblastoma when they are younger than 5 years of age with a mean age of 2 years. [6] Medulloblastoma subtype in Gorlin's syndrome is often desmoplastic. As the majority of the criteria laid down for this syndrome appear later in life, desmoplastic subtype of medulloblastoma in children younger than 2 years of age is a major diagnostic criterion for the diagnosis of Gorlin's syndrome. [7] We performed a skin biopsy of the nevus to find out the evidence of basal cell carcinoma, but it showed a benign intradermal nevus. Moreover, we did not find any reports of the association of anorectal malformation, cutaneous nevii and medulloblastoma. This is the first reported case of its kind or the making of Gorlin's syndrome.

   References Top

1.Kaufman BA. Medulloblastoma. In : Winn HR, editors. Youmans Neurological Surgery. Vol 3, Book 3. Saunders: Philadelphia; 2004. p. 3639-54.  Back to cited text no. 1    
2.Maleci A, Cervoni L, Delfini R. Medulloblastoma in children and adults: A comparative study. Acta Neurochir (Wien) 1992;119:62-7.  Back to cited text no. 2  [PUBMED]  
3.Provias JP, Becker LE. Cellular and molecular pathology of medulloblastoma. J Neurooncol 1996;29:39-43.  Back to cited text no. 3    
4.Kimonis VE, Goldstein AM, Pastakia B, Yang ML, Kase R, DiGiovanna JJ, et al . Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 1997;69:299-308.  Back to cited text no. 4  [PUBMED]  [FULLTEXT]
5.Walter AW, Pivnick EK, Bale AE, Kun LE. Complications of the nevoid basal cell carcinoma syndrome: A case report. J Pediatr Hematol Oncol 1997;19:258-62.  Back to cited text no. 5  [PUBMED]  [FULLTEXT]
6.Evans DG, Farndon PA, Burnell LD, Gattamaneni HR, Birch JM. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer 1991;64:959-61.  Back to cited text no. 6  [PUBMED]  
7.Amalshi SF, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: Relation with desmoplastic medulloblastoma in infancy: A population-based study and review of the literature. Cancer 2003;98:618-24.  Back to cited text no. 7    


  [Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]


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