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Infantile presentation of villous hyperplasia of choroid plexus as a rare cause of hydrocephalus
V Nitheesha Reddy1, Pararathu Viswanathan Sreekesh2, MS Gopalakrishnan2, Nichanametla Sravani1, Krishnan Nagarajan1
1 Department of Radio-Diagnosis, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India
2 Department of Neurosurgery, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry, India
|Date of Submission||21-Jan-2022|
|Date of Decision||15-Mar-2022|
|Date of Acceptance||18-Mar-2022|
|Date of Web Publication||30-Jan-2023|
Department of Radio-Diagnosis, Jawaharlal Institute of Postgraduate Medical Education & Research (JIPMER), Pondicherry 605006
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Villous hyperplasia of choroid plexus (VHCP) is a very rare benign condition characterized by diffuse enlargement of the choroid plexus with overproduction of cerebrospinal fluid (CSF), thus leading to shunt-resistant hydrocephalus in children. Although ultrasonography (USG) and computed tomography (CT) may aid in diagnosing the communicating hydrocephalus and choroid plexus enlargement, the diagnosis is essentially made on magnetic resonance imaging (MRI) by demonstrating diffuse enlargement and enhancement of the choroid plexus of the lateral ventricles diffusely, without any discrete masses. There are very few cases of this condition reported in the literature so far. In this report, we present a case of an infant presenting with hydrocephalus from VHCP and a brief review of the literature.
Keywords: Choroid plexus, hydrocephalus, magnetic resonance imaging, villous hyperplasia
|How to cite this URL:|
Nitheesha Reddy V, Sreekesh PV, Gopalakrishnan M S, Sravani N, Nagarajan K. Infantile presentation of villous hyperplasia of choroid plexus as a rare cause of hydrocephalus. J Pediatr Neurosci [Epub ahead of print] [cited 2023 Oct 3]. Available from: https://www.pediatricneurosciences.com/preprintarticle.asp?id=368791
| Introduction|| |
Villous hyperplasia of choroid plexus (VHCP) is one of the unusual causes for shunt-resistant congenital hydrocephalus in children. This condition is first described in 1924 by Davis as benign villous hypertrophy; however, the term hyperplasia is more appropriate than hypertrophy due to the presence of an increased number of normal-sized cells on histology. VHCP results in cerebrospinal fluid (CSF) overproduction leading to communicating hydrocephalus and is characterized by diffuse enlargement of choroid plexus in bilateral ventricles without any discrete mass., The condition is managed by ventriculoperitoneal (VP) shunt or ventriculoatrial (VA) shunt. Other modes of treatment tried in shunt-resistant cases include endoscopic coagulation and choroid plexectomy surgeries.,, We report the case of a 3-month-old infant who presented with an enlarged head and was found on evaluation to have choroid plexus hyperplasia.
| Case Details|| |
A 3-month-old male infant presented gradually increasing head size, excessive cry, and poor feeding. His birth history was unremarkable without any complications and neonatal admissions. Non-contrast computed tomography (CT) scan performed at the presentation showed communicating hydrocephalus and prominent choroid plexuses in both lateral ventricles. We did a right VP shunt on the same day. Post-shunt CT scan after one week showed subgaleal collection that we thought was due to a distal obstruction. Though we revised the shunt, his parents brought him again at the fifth month of age with a tense, distended abdomen, bulging umbilical hernia, scrotal swelling, and fluid collection along the shunt tract. His hematological and biochemical investigations were normal, including cerebrospinal fluid (CSF) parameters. CT showed gross persistent hydrocephalus, which we assumed was due to the poor absorptive capacity of the infantile peritoneum. We removed the VP shunt and put VA shunt. We confirmed that the distal portion of the VA shunt was in the right atrium by doing intra-operative precordial echocardiography and also by doing a post-operative chest X-ray. There was subcutaneous retrograde CSF collection along the earlier shunt track in the immediate postoperative period, but this subsided with aspiration and pressure bandage. The child recovered well, and the subcutaneous collection and abdominal distention disappeared. There was a moderate decrease in the ventriculomegaly, and the child was on follow-up with a V-A shunt [Figure 1].
|Figure 1: Plain CT scan (A) when child presented initially with enlarged head. Chest radiograph (B) showing ventriculo-atrial shunt tip in the right atrium (arrow). Plain CT axial section (C) showing moderate reduction in the hydrocephalus|
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Once the child’s condition stabilized, we did a magnetic resonance imaging (MRI) that showed the ventricular end of the shunt in the right lateral ventricle. There was a mild dilatation of lateral, third, and fourth ventricles. We noted diffuse enlargement of the choroid plexuses of both lateral ventricles with the right side being slightly larger than the left [Figure 2]. A post-contrast study showed intense homogeneous enhancement of both choroid plexuses without any discrete focal mass. We also noted a few small cysts within it.
|Figure 2: FLAIR axial (A), heavily T2-weighted 3D SPACE sagittal (B and C) and axial T2 (D) images showing enlarged choroid plexuses with few cystic areas. Right temporal extra-cerebral collection is also noted. Post-contrast T1-weighted axial (E) and sagittal (F and G) images showing intense enhancement diffusely involving temporal horns, trigone and posterior body of lateral ventricles, slightly larger on the right side. Recent Plain CT (H) showing reduction in ventriculomegaly with shunt in situ|
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He again presented at the age of six with neck pain and clear fluid discharge from the nose. We did a shunt tap and found out that the distal end was blocked. A technetium-99 intrathecal cisternography confirmed that there was a cerebrospinal fluid leak. We removed the old blocked VA shunt and replaced it with a new one, this time cannulating a collateral neck vein into the right atrium. We measured the CSF output during the operative procedure by exteriorizing and cutting the end of the blocked, previous VA shunt, and found it to be 130 mL/h. The average rate we expected for his age and weight was 16 mL/h, and his CSF output was many times more than the two standard deviations expected. We removed the old shunt and put a new VA shunt. Though we offered excision of the plexus as a definitive treatment, his parents refused it for the time being. There was a moderate decrease in the ventriculomegaly, and the child is on follow-up with a VA shunt [Figure 2H].
| Discussion|| |
Choroid plexus hyperplasia is uncommon amongst the choroid plexus lesions. They present with symptoms of hydrocephalus like macrocephaly, bulging anterior fontanelle, excessive cry, poor feeding. Communicating hydrocephalus in these cases occurs from CSF overproduction and is usually treated with VP shunt initially. As the CSF production is more than the absorptive capacity of the infantile peritoneum, there can be secondary ascites and fluid collections along the shunt tract, thereby making the VP shunt insufficient. One should rule out shunt infection before attributing this to increased CSF production. CSF estimation has been done using radionuclide study or daily external drainage but may risk disease and fluid-electrolyte disturbances.,
Cranial ultrasound or CT may be the initial investigation performed during the workup for macrocephaly in a neonate. Communicating hydrocephalus may be noted in choroid plexus hyperplasia, and enlarged choroid plexus may or may not be discernible in USG or CT. MRI shows the diffuse enlargement of choroid plexus along with the entire extent of choroid fissures with homogenous enhancement and without any discrete focal/nodular lesions. These imaging findings help us to identify the cause in cases with failed VP shunts from CSF over-production and maybe a better indirect method of assessing the CSF over-production.
Choroid plexus papilloma (CPP) can be considered one of the differentials, but it is usually more nodular with lobulated borders and is frequently unilateral. Multiple CPPs may mimic diffuse villous hypertrophy of the choroid plexus. The latter are symmetrical, involve the choroid plexus diffusely, produce disproportionate hydrocephalus and occur mostly in infants and neonates, unlike the CPPs. CPPs are focal mass lesions and are usually single. They are asymmetrical if multiple (e.g., trigone and fourth ventricle). Hydrocephalus is of less severity and is generally seen in older children or adults. Other differential diagnoses include plexus carcinoma and metastases, usually nodular and heterogeneous and may often infiltrate into adjacent brain parenchyma and cause periventricular edema.
The number of cases reported has increased only recently, from six cases in 2006 to 36 in a recent review., In another recent report of a 14-month-old girl with a partial trisomy of 9p, Li et al. reported that 14 out of 32 reviewed cases had genetic abnormalities, including seven with the same chromosome 9 involvement.,, The presence of choroid plexus tumors in syndromes like Von Hippel–Lindau disease, Aicardi’s syndrome, and Li-Fraumeni syndrome is well-known. In their literature review, Li et al. found that out of 33 cases, 27 were in the pediatric age group, and there were three adults, and two cases were detected in postmortem findings. Twelve patients underwent plexectomy (nine bilateral, two unilateral, and one partial), and choroid plexus coagulation was done in 10 (four bilateral, three unilateral, and three unspecified) apart from shunting. Eight patients were successfully managed with shunting alone (6 VA and 2 VP shunts).
On microscopic examination, there will be multiple fronds with papillary processes and fibrovascular cores and these are lined by a single layer of cuboidal and columnar cells without nuclear atypia or mitotic figures. As villous hypertrophy may mimic CPPs even in histopathology, D’Ambrosio et al proposed using proliferation index using MIB-1 labeling index to differentiate them. They found the MIB-1 to be 4% in CPP, which looked like villous hypertrophy on initial imaging appearance. Such a strategy is further supported by the findings of Bohara et al., who used Ki-67/MIB-1 in 10 cases of choroid plexus tumors. The index increased from CPP to atypical CPPs and further in choroid plexus carcinomas.
Among the options to reduce ventriculomegaly, V-A shunt is considered in case of V-P shunt failure is caused by ascites or shunt-track collections. However, shunt infection and congestive heart failure can occur in patients with long-term V-A shunts, mainly when associated congenital heart disease is present. Excessive production of CSF will not resolve until tissue hyperplasia is removed; hence, endoscopic coagulation and plexectomy have been tried. Philips et al used ventriculoscopy-assisted staged bilateral endoscopic coagulation, resulting in resolution of ascites and shunt-track fluid collections, but shunt-dependency persisted. Reports of using laser to coagulate or reduce the bulk of choroid plexus before surgery and open plexectomy after failed endoscopic coagulation have been reported.,, Despite open craniotomy and plexectomy, Di Rocco et al found that the child remained dependent on shunt. These open procedures may lead to complications like intraventricular hemorrhage, collapse of the cortical mantle from drainage of CSF or visual field defects from corticectomy., Another recent mode of treatment tried for this rare lesion is choroidal artery embolization - usually the posterior choroidal, both medial and lateral posterior choroidal branches - from the posterior cerebral artery. In our case, VA shunt was well tolerated with decrease in ascites, shunt track collections, and improvement in clinical symptoms, and the child is now doing well.
Choroid plexus hyperplasia is a rare cause of communicating hydrocephalus in infants and children. Choroid plexus hyperplasia should be suspected in cases with persistent hydrocephalus after repeated failed VP shunts. It can also present with atypical features like CSF rhinorrhea due to increased intracranial pressure or papilledema when the shunt gets blocked. It is important to recognize that it is the excessive production of CSF from the enlarged choroid plexus that is overwhelming the absorptive capacity of the peritoneum in such situations. The final diagnosis is a demonstration of symmetrically enlarged choroid plexuses on imaging though it was distinctly asymmetric in our patient. Conventional diverting procedures like VP shunt and VA shunt are the mainstay of treatment. Early identification and choroid plexectomy/endoscopic coagulation may help normalize the CSF circulation without shunt dependency.
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Conflicts of interest
There are no conflicts of interest.
| References|| |
Warren DT, Hendson G, Cochrane DD Bilateral choroid plexus hyperplasia: a case report and management strategies. Childs Nerv Syst 2009;25:1617-22.
Davis LE A Physio-pathologic study of the choroid plexus with the report of a case of villous hypertrophy. J Med Res 1924;44:521-34.11.
Naeini RM, Yoo JH, Hunter JV Spectrum of choroid plexus lesions in children. AJR Am J Roentgenol 2009;192:32-40.
Britz GW, Kim DK, Loeser JD Hydrocephalus secondary to diffuse villous hyperplasia of the choroid plexus. Case report and review of the literature. J Neurosurg 1996;85:689-91.
Philips MF, Shanno G, Duhaime AC Treatment of villous hypertrophy of the choroid plexus by endoscopic contact coagulation. Pediatr Neurosurg 1998;28:252-6.
Tamburrini G, Caldarelli M, Di Rocco F, Massimi L, D’Angelo L, Fasano T, et al
. The role of endoscopic choroid plexus coagulation in the surgical management of bilateral choroid plexuses hyperplasia. Childs Nerv Syst 2006;22:605-8.
Hirano H, Hirahara K, Asakura T, Shimozuru T, Kadota K, Kasamo S, et al
. Hydrocephalus due to villous hypertrophy of the choroid plexus in the lateral ventricles. Case report. J Neurosurg 1994;80:321-3.
Welch K, Strand R, Bresnan M, Cavazzuti V Congenital hydrocephalus due to villous hypertrophy of the telencephalic choroid plexuses. Case report. J Neurosurg 1983;59:172-5.
Fujimoto Y, Matsushita H, Plese JP, Marino R Jr. Hydrocephalus due to diffuse villous hyperplasia of the choroid plexus. Case report and review of the literature. Pediatr Neurosurg 2004;40:32-6.
Yoshino A, Katayama Y, Watanabe T, Kurihara J, Kimura S Multiple choroid plexus papillomas of the lateral ventricle distinct from villous hypertrophy. Case report. J Neurosurg 1998;88:581-5.
Iplikcioglu AC, Bek S, Gökduman CA, Bikmaz K, Cosar M Diffuse villous hyperplasia of choroid plexus. Acta Neurochir (Wien) 2006;148:691-4; discussion 694.
Bernstock JD, Tafel I, Segar DJ, Dowd R, Kappel A, Chen JA, et al
. Complex management of hydrocephalus secondary to choroid plexus hyperplasia. World Neurosurg 2020;141:101-9.
Li D, Shokuhfar T, Pantalone J, Rothstein B, Alden TD, Shaibani A, et al
. Choroidal artery embolization in the management of cerebrospinal fluid overproduction: case report and review of the literature. J Neurosurg Pediatr 2019;23:737-48.
Puerta-Roldan P, Guillen-Quesada A, Carrasco R, Muchart J, Serrano M, Ferrer E [Hydrocephalus due to hyperplasia of the choroid plexuses in a patient with trisomy 9 mosaicism. A real diagnostic and therapeutic challenge]. Rev Neurol 2017;65:112-6.
Furey C, Antwi P, Duran D 9p24 triplication in syndromic hydrocephalus with diffuse villous hyperplasia of the choroid plexus. Cold Spring Harb Mol Case Stud 2018;4:a003145..
Boxill M, Becher N, Sunde L, Thelle T Choroid plexus hyperplasia and chromosome 9p gains. Am J Med Genet A 2018;176:1416-22.
D’Ambrosio AL, O’Toole JE, Connolly ES Jr, Feldstein NA Villous hypertrophy versus choroid plexus papilloma: a case report demonstrating a diagnostic role for the proliferation index. Pediatr Neurosurg 2003;39:91-6.
Bohara M, Hirabaru M, Fujio S, Higashi M, Yonezawa H, Karki P, et al
. Choroid plexus tumors: experience of 10 cases with special references to adult cases. Neurol Med Chir (Tokyo) 2015;55:891-900.
Bucholz RD, Pittman T Endoscopic coagulation of the choroid plexus using the Nd: YAG laser: initial experience and proposal for management. Neurosurg 1991;28:421-7.
Di Rocco C, Iannelli A Poor outcome of bilateral congenital choroid plexus papillomas with extreme hydrocephalus. Eur Neurol 1997;37:33-7.
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