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Choroid Plexus Carcinoma Enmasked with Soft Signs and Symptoms

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Choroid Plexus Carcinoma Enmasked with Soft Signs and Symptoms Published online: 2021-06-03 Practitioner Section Choroid Plexus Carcinoma Enmasked with Soft Signs and Symptoms Abstract Shruti Appaji, Choroid plexus carcinomas (CPCs) are rare brain tumors, with preponderance in infants. They are KNV Prasad highly invasive tumors with a dismal prognosis. The 5‑year survival rates for CPC vary between Department of Paediatrics, 10% and 50%. They commonly arise from the lateral ventricles. CPCs in infants present with the Sri Devraj Urs Medical College, subtle features of raised intracranial tension (ICT). Surgical resection is the mainstay of management Kolar, Karnataka, India with adjuvant chemotherapy and radiotherapy. We report a case of 11‑month‑old child with CPC, presented with subtle nonspecific signs and symptoms of raised ICT, treated by surgical resection and chemotherapy. Keywords: Choroid plexus carcinoma, infant, subtle features of raised intracranial tension Introduction Case Report Choroid plexus carcinomas (CPCs) are A firstborn, 11‑month‑old male child, born rare intracranial neoplasms arising from to nonconsanguineously married couple neuroepithelial lining of the choroid plexus. presented to our emergency unit with the They account for only 0.3% of all the history of loose stools for 7 days, fever, intracranial tumors.[1] Choroid plexus tumor refusal of feeds, irritability, and excessive (CPT) was first described by Guerard cry for 2 days. On probing, the child had in 1833. In 1906, Bielschowsky Unger history of irritability, excessive cry, and reported first surgical resection. Accounting lethargy for last 6 weeks for which child for 20%–30% of CPT, choroid plexus had multiple hospital visits and treated carcinomas are malignant counterpart of symptomatically. The child had normal choroid plexus papilloma (CPP). About development. Birth history and postnatal 70% of CPC are commonly seen in children, course were uneventful. At admission, which occur within the first 2 years of life. child was sick and irritable and Glasgow In children, they are mostly supratentorial in Coma Scale was 10/15 with stable vitals. origin. Around 50% of the CPC arise from General physical examination showed lateral ventricles.[2] Signs and symptoms Grade 2 pallor, anterior fontanelle was of raised intracranial tension (ICT) are bulged and tense [Figure 1]. There the common clinical manifestations in were no neurocutaneous markers. Head children.[1‑3] CPTs are classified on the circumference and Anthropometric Submission: 11‑Apr‑2018 Revision: 18‑May‑2018 basis of their histological criteria. Surgical measurements were normal. On Acceptance: 12‑Sep‑2018 resection is the mainstay of management neurological examination, pupils were equal Published: 17‑Feb‑2020 and for prognostication. Chemotherapy and reactive to light, extraocular movements and radiotherapy are adjuvant treatment. and fundoscopy were normal. No motor or Address for correspondence: Recurrence rate of the tumor accounts for sensory deficits were noted. Other systemic Dr. KNV Prasad, 13% and 5‑year survival rate is only 40% examination was unremarkable. Provisional Department of Paediatrics, with the multimodal therapy. Survivors of diagnosis of acute encephalitis syndrome Sri Devraj Urs Medical College, CPCs have some neurological compromise with raised ICP was made and treated as per Kolar ‑ 563 101, Karnataka, India. [4,5] depending on the extent of invasion. protocol. Investigations showed microcytic E‑mail: [email protected] Presentation with atypical symptoms and hypochromic anemia with neutrophilic signs is not frequently encountered for this leukocytosis and thrombocytosis. C‑reactive entity. Here, we report a 11‑month‑old male protein was elevated. Guarded lumbar Access this article online child with CPC presenting with atypical puncture done revealed hypoglycorrhachia, Website: www.ijmpo.org signs and symptoms. elevated proteins and two lymphocytes DOI: 10.4103/ijmpo.ijmpo_83_18 with no malignant cells. Computed Quick Response Code: This is an open access journal, and articles are distributed under the terms of the Creative Commons tomography (CT) brain was suggestive Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are How to cite this article: Appaji S, Prasad KN. licensed under the identical terms. Choroid plexus carcinoma enmasked with soft signs and symptoms. Indian J Med Paediatr Oncol 2019;40:584-7. For reprints contact: [email protected] 584 © 2020 Indian Journal of Medical and Paediatric Oncology | Published by Wolters Kluwer - Medknow Appaji and Prasad: Choroid plexus carcinoma of intracranial space‑occupying lesion arising from the 3 weeks is being continued. Radiotherapy was deferred in periventricular region [Figure 2]. Contrast‑enhanced view of his age. magnetic resonance imaging (MRI) and magnetic Follow‑up MRI, 9 months following surgery, showed no resonance spectroscopy (MRS) [Figures 3 and 4] showed obvious enhancing lesion. Presently, the child is visually large lobulated avidly enhancing intraventricular mass handicapped secondary to optic atrophy and has been arising from the right ventricle (7.3 cm × 7.9 cm × 8.1 cm) attaining motor and language milestones appropriate for with multifocal internal necrotic component, calcific foci, age with no signs of recurrence. and intrinsic flow voids. There was extensive white matter edema with mass effects in the form of effacement of Discussion cortical sulci, right uncal herniation, and midbrain/third ventricular compression. Both optic nerves were torturous CPTs are rare intraventricular papillary neoplasms derived with indenting optic disc. MRS revealed markedly elevated from the neuroectodermal epithelium, which account for choline/creatinine ratio with NAA and elevated lipid/lactate approximately 2%–4% of intracranial tumors in children. peak at 1.3 ppm, all features consistent of diagnosis of CPP are benign and more common than CPCs in a CPC. ratio of 5:1. CPCs account for 0.6% of all brain tumors. Approximately 80% of CPCs arise in children, and 20% The child was referred to the neurosurgical center, where are seen in adults. The average annual incidence is 0.3 right temporoparietal craniotomy and decompression of the per 1,000,000 population. They are more common in lesion were done. Grossly, lesion was grayish firm and easily young children, with a median age diagnosis of 1.5 years suckable and mildly vascular in the right temporoparietal in case of supratentorial tumors. In comparison in adults region. Histopathological examination (HPE) was CPCs are diagnosed as infratentorial fourth ventricle or suggestive of WHO Grade III CPC [Figures 5 and 6]. cerebellopontine tumors.[1‑3] The child was transferred to the oncological center where adjuvant chemotherapy with vincristine, cyclophosphamide, and alternating with carboplatin and etoposide once in Figure 2: Intracranial space-occupying lesion from periventricular region Figure 1: Bulging anterior fontanel Figure 3: T2 Coronal sequence post contrast shows large lobulated avidly Figure 4: T1 fat suppressed post contrat axial study shows intraventricular enhanching intraventricular mass arising from right ventricle with multifocal mass from right ventricle with midline shift to the left and mild internal cystic/necrotic component, calcific foci and intrinsic flow voids hydrocephalus Indian Journal of Medical and Paediatric Oncology | Volume 40 | Issue 4 | October-December 2019 585 Appaji and Prasad: Choroid plexus carcinoma Figure 5: Papillae lined by neoplastic cells (H and E, ×100) Figure 6: The nuclei show pleomorphism with mitoses Etiology of CPC’s is unknown. They are sporadic in origin. of stromal edema, and necrotic areas. Elevated mitotic Majority of CPC’s harbor TP53 mutations, and Merino et al. activity (more than 2 mitoses per 20 HPF) was the sole observed that tumors with increased mutant copies are the feature independently associated with higher likelihood of most likely to be aggressive with poorer survival.[6] Notch 3 recurrence.[2,6] signaling, the transcription factor TWIST1, platelet‑derived In children, lateral ventricles are the common sites of growth factor receptor, and the tumor necrosis factor CPCs accounting for 80%. Children with CPCs have related apoptosis‑inducing ligand pathway have also been varied clinical symptomatology and present with signs [6,7] implicated in papilloma tumorigenesis. CPCs have been and symptoms of raised ICP, such as vomiting, headaches, associated with Li–Fraumeni syndrome, with mutation of and unsteadiness. As the median age of onset is 9 months, p53 tumor‑suppressor gene, Aicardi syndrome and possible macrocephaly is often present, especially in congenital association with Simian Virus 40 is observed since DNA tumors as reported by Humphreys et al.[1] Hydrocephalus sequences of virus have been identified in the tumor’s is believed to be secondary to the overproduction of CSF. [7] genome. There may be secondary hemorrhage within the CSF At diagnosis, CPCs vary significantly in size. CPCs are and increased ventricular dilatation due to subarachnoid [2] softer and more friable than papilloma’s on gross, but reabsorption block. Children usually have abrupt onset the grade of neoplasm cannot be differentiated. Although of symptoms before diagnosis, mostly ranging from carcinomas rarely metastasize, they disseminate throughout 1 week to 2 months due to their chronicity. Carcinomas the cerebrospinal fluid (CSF)
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