Choroid plexus hyperplasia

Choroid plexus hyperplasia

Choroid plexus hyperplasia (CPH), also known as villous hypertrophy of the choroid plexus, is a rare benign condition that is characterized by bilateral enlargement of the entire choroid plexus in lateral ventricles without any discrete masses. This can result in overproduction of CSF and communicating hydrocephalus.

Despite the current knowledge about hydrocephalus, we remain without a complete understanding of the pathophysiology of this condition. glymphatic system (GS) could be more important than the conventional concept of reabsorption of CSF in the arachnoid villi, therefore GS could be a new key point, which will guide future investigations 1).

Histology shows an increased number of normal-sized cells.

This is best diagnosed by MRI which demonstrates a diffuse enlargement and homogeneous enhancement of choroid plexuses in a patient with communicating hydrocephalus 2).

It is a rare condition that may necessitate unusual treatment paradigms.

Although some authors recommend choroid plexus excision or coagulation, ventriculoatrial shunt insertion is a simple and effective treatment modality in cases of diffuse villous hyperplasia of the choroid plexus 3).

It can be seen in trisomy 9p where coexisting congenital heart disease additionally may complicate the therapeutic approach 4).

At 20 months of age, a Caucasian girl with trisomy 9 and a family history of an older brother and twin sister having the same syndrome displayed signs of congenital hydrocephalus due to increasing head circumferenceMagnetic resonance imaging revealed enlarged lateral ventricles and a prominent choroid plexus and the girl was treated with a ventriculoperitoneal shunt, which 2 days later had to be replaced with a ventriculoatrial shunt as cerebrospinal fluid production greatly exceeded the ability of the patient’s abdominal absorptive capability. At 16 years of age, the patient was diagnosed with cardiomyopathy and diminished ejection fraction. Some months later, she was admitted to the neurosurgical ward showing signs of shunt dysfunction due to a colloid cyst in the third ventricle. Cystic drainage through endoscopic puncture only helped temporarily. Revision of the shunt system showed occlusion of the ventricular drainage, and replacement was merely temporary alleviating. Intracranial pressure was significantly increased at around 30 mmHg, prompting externalization of the drain, and measurements revealed high cerebrospinal fluid production of 60-100 ml liquor per hour. Thus, endoscopic choroid plexus coagulation was performed bilaterally leading to an immediate decrease of daily cerebrospinal fluid formation to 20-30 ml liquor per hour, and these values were stabilized by pharmaceutical treatment with acetazolamide 100 mg/kg/day and furosemide 1 mg/kg/day. Subsequently, a ventriculoperitoneal shunt was placed. Follow-up after 1 and 2 months displayed no signs of hydrocephalus or ascites.

High cerebrospinal fluid volume load and coexisting heart disease in children with trisomy 9p may call for endoscopic choroid plexus coagulation and pharmacological therapy to diminish the daily cerebrospinal fluid production to volumes that allow proper ventriculoperitoneal shunting 5).

A 1-year-old patient was diagnosed with communicating hydrocephalus; ventricle peritoneal shunt (VPS) is installed and ascites developed. VPS is exposed, yielding volumes of 1000-1200ml/day CSF per day. MRI is performed showing generalized choroidal plexus hyperplasia. Bilateral endoscopic coagulation of thechoroid plexus was performed in 2 stages (CPC) however the high rate of CSF production persisted, needing a bilateral plexectomy through septostomy, which finally decreased the CSF outflow.

New knowledge about CSF physiology will help to propose better treatment depending on the cause of the hydrocephalus. The GS is becoming an additional reason to better study and develop new therapies focused on the modulation of alternative CSF reabsorption. 6).

In these patients, intractable ascites can occur after a ventriculoperitoneal (VP) shunting operation. However, shunt-related hydrocele is a rare complication of VP shunting. Previous reports have indicated catheter-tip migration to the scrotum as a cause of hydrocele. Here, we present the first documented case of choroid plexus hyperplasia that led to intractable ascites after shunting and a resulting hydrocele without catheter-tip migration into the scrotum 7).

1) , 6)

Paez-Nova M, Andaur K, Campos G, Garcia-Ballestas E, Moscote-Salazar LR, Koller O, Valenzuela S. Bilateral hyperplasia of choroid plexus with severe CSF production: a case report and review of the glymphatic system. Childs Nerv Syst. 2021 Nov;37(11):3521-3529. doi: 10.1007/s00381-021-05325-2. Epub 2021 Aug 19. PMID: 34410450.

Iplikcioglu AC, Bek S, Gökduman CA, Bikmaz K, Cosar M. Diffuse villous hyperplasia of choroid plexus. Acta Neurochir (Wien). 2006 Jun;148(6):691-4; discussion 694. doi: 10.1007/s00701-006-0753-1. Epub 2006 Mar 8. PMID: 16523225.
4) , 5)

Henningsen MB, Gulisano HA, Bjarkam CR. Congenital hydrocephalus in a trisomy 9p gained child: a case report. J Med Case Rep. 2022 May 27;16(1):206. doi: 10.1186/s13256-022-03424-5. PMID: 35619116.

Hori YS, Nagakita K, Ebisudani Y, Aoi M, Shinno Y, Fukuhara T. Choroid Plexus Hyperplasia with Intractable Ascites and a Resulting Communicating Hydrocele following Shunt Operation for Hydrocephalus. Pediatr Neurosurg. 2018;53(6):407-412. doi: 10.1159/000492333. Epub 2018 Aug 29. PMID: 30157489.

Craniopharyngioma (CP)

Craniopharyngioma (CP)

A craniopharyngioma (CP) is an embryonic malformation of the sellar region and parasellar region.

Its relation to Rathke’s cleft cyst (RCC) is controversial, and both lesions have been hypothesized to lie on a continuum of ectodermal cystic lesions of the sellar region.

Craniopharyngiomas frequently grow from remnants of the Rathke pouch, which is located on the cisternal surface of the hypothalamic region. These lesions can also extend elsewhere in the infundibulohypophyseal axis.

These tumors can also grow from the infundibulum or tuber cinereum on the floor of the third ventricle, developing exclusively into the third ventricle.

Jakob Erdheim (1874-1937) was a Viennese pathologist who identified and defined a category of pituitary tumors known as craniopharyngiomas. He named these lesions “hypophyseal duct tumors” (Hypophysenganggeschwülste), a term denoting their presumed origin from cell remnants of the hypophyseal duct, the embryological structure through which Rathke’s pouch migrates to form part of the pituitary gland. He described the two histological varieties of these lesions as the adamantinomatous and the squamous-papillary types. He also classified the different topographies of craniopharyngiomas along the hypothalamus-pituitary axis. Finally, he provided the first substantial evidence for the functional role of the hypothalamus in the regulation of metabolism and sexual functions. Erdheim’s monograph on hypophyseal duct tumors elicited interest in the clinical effects and diagnosis of pituitary tumors. It certainly contributed to the development of pituitary surgery and neuroendocrinology. Erdheim’s work was greatly influenced by the philosophy and methods of research introduced to the Medical School of Vienna by the prominent pathologist Carl Rokitansky. Routine practice of autopsies in all patients dying at the Vienna Municipal Hospital (Allgemeines Krankenhaus), as well as the preservation of rare pathological specimens in a huge collection stored at the Pathological-Anatomical Museum, represented decisive policies for Erdheim’s definition of a new category of epithelial hypophyseal growths. Because of the generalized use of the term craniopharyngioma, which replaced Erdheim’s original denomination, his seminal work on hypophyseal duct tumors is only referenced in passing in most articles and monographs on this tumor.

Jakob Erdheim should be recognized as the true father of craniopharyngiomas 1).

Craniopharyngioma epidemiology.

Its relation to Rathke’s cleft cyst (RCC) is controversial, and both lesions have been hypothesized to lie on a continuum of cystic ectodermal lesions of the sellar region.

It grows close to the optic nervehypothalamus and pituitary gland.

Craniopharyngioma Classification.

Genetic and immunological markers show variable expression in different types of CraniopharyngiomaBRAF is implicated in tumorigenesis in papillary Craniopharyngioma (pCP), whereas CTNNB1 and EGFR are often overexpressed in adamantinomatous Craniopharyngioma (aCP) and VEGF is overexpressed in aCP and Craniopharyngioma recurrence. Targeted treatment modalities inhibiting thesepathways can shrink or halt progression of CP. In addition, Epidermal growth factor receptor tyrosine kinase inhibitors may sensitize tumors to radiation therapy. These – drugs show promise in medical management and neoadjuvant therapy for CP. Immunotherapy, including anti-interleukin 6 (IL-6) drugs and interferon treatment, are also effective in managing tumor growth. Ongoing – clinical trials in CP are limited but are testing BRAF/MET inhibitors and IL-6 monoclonal antibodies.

Genetic and immunological markers show variable expression in different subtypes of CP. Several current molecular treatments have shown some success in the management of this disease. Additional clinical trials and targeted therapies will be important to improve CP patient outcomes 2).

Craniopharyngioma natural history.

see Craniopharyngioma Clinical Features.

see Craniopharyngioma Diagnosis.

Rathke’s cleft cyst.

ependymomapilocytic astrocytomachoroid plexus papilloma (CPP), craniopharyngiomaprimitive neuroectodermal tumor (PNET), choroid plexus carcinoma (CPC), immature teratomaatypical teratoid rhabdoid tumor (AT/RT), anaplastic astrocytoma, and gangliocytoma.

Compared with craniopharyngiomas, sellar gliomas presented with a significantly lower ratio of visual disturbances, growth hormone deficiencies, lesion cystic changes, and calcification. Sellar gliomas had significantly greater effects on the patients’ mentality and anatomical brain stem involvement 3).

Simultaneous sellar-suprasellar craniopharyngioma and intramural clival chordoma, successfully treated by a single staged, extended, fully endoscopic endonasal approach, which required no following adjuvant therapy is reported 4).

see Craniopharyngioma treatment

see Craniopharyngioma outcome

Craniopharyngioma: Surgical Treatment.

Craniopharyngioma Selected Works.

see Craniopharyngioma case series.

see Craniopharyngioma case reports.

Craniopharyngioma Videos


Pascual JM, Rosdolsky M, Prieto R, Strauβ S, Winter E, Ulrich W. Jakob Erdheim (1874-1937): father of hypophyseal-duct tumors (craniopharyngiomas). Virchows Arch. 2015 Jun 19. [Epub ahead of print] PubMed PMID: 26089144.

Reyes M, Taghvaei M, Yu S, Sathe A, Collopy S, Prashant GN, Evans JJ, Karsy M. Targeted Therapy in the Management of Modern Craniopharyngiomas. Front Biosci (Landmark Ed). 2022 Apr 20;27(4):136. doi: 10.31083/j.fbl2704136. PMID: 35468695.

Deng S, Li Y, Guan Y, Xu S, Chen J, Zhao G. Gliomas in the Sellar Turcica Region: A Retrospective Study Including Adult Cases and Comparison with Craniopharyngioma. Eur Neurol. 2014 Dec 18;73(3-4):135-143. [Epub ahead of print] PubMed PMID: 25531372.

Iacoangeli M, Rienzo AD, Colasanti R, Scarpelli M, Gladi M, Alvaro L, Nocchi N, Scerrati M. A rare case of chordoma and craniopharyngioma treated by an endoscopic endonasal, transtubercular transclival approach. Turk Neurosurg.2014;24(1):86-9. doi: 10.5137/1019-5149.JTN.7237-12.0. PubMed PMID: 24535799.

Atlantoaxial rotatory subluxation

Atlantoaxial rotatory subluxation

● typically seen in children

● associations: trauma, RA, respiratory tract infections in peds (Grisel syndrome)

● often present with cock-robin head position (tilt, rotation, sl. flexion)

● Tx: early traction often successful. Treat infection in Grisel syndrome. Subluxation unreducible in traction may need transoral release then posterior fusion.

Rotational deformity at the atlanto-axial junction is usually of short duration and easily corrected. Rarely, the atlantoaxial joint locks in rotation (AKA atlantoaxial rotatory fixation 1)

Usually seen in children. May occur spontaneously (with rheumatoid arthritis 2) or with congenital dens anomalies), following major or minor trauma (including neck manipulation or even with neck rotation while yawning 3), or with an infection of the head or neck including upper respiratory tract (known as Grisel syndrome 4): inflammation may cause mechanical and chemical injury to the facet capsules and/or Transverse Ligament of the Atlas.

Atlantoaxial rotatory fixation (AARF) is a rare condition that occurs most commonly in children.

Could occur due to congenital bony malformation, minor trauma, upper respiratory tract infections (Grisel’s syndrome), postoperatively after head and neck (ENT) surgery, and unknown reasons. AARF in the postoperative patient is a rare and poorly understood entity.

A serious and often unrecognized complication of rheumatoid arthritis or ankylosing spondylitis.

The dislocation may be at the occipito-atlantal and/or the atlanto-axial articulations 5). The mechanism of the irreducibility is poorly understood. With an intact TAL, rotation occurs without anterior displacement. If the TAL is incompetent as a result of trauma or infection, there may also be anterior displacement with more potential for neurologic injury. Posterior displacement occurs only rarely 6)

Fielding & Hawkins

type I: the atlas is rotated on the odontoid with no anterior displacement

type II: the atlas is rotated on one lateral articular process with 3 to 5 mm of anterior displacement

type III: comprises a rotation of the atlas on both lateral articular processes with anterior displacement greater than 5 mm

type IV: characterised by rotation and posterior displacement of the atlas vertical subluxation

The neurologic deficit is rare. Findings may include: neck painheadachetorticollis—characteristic “cock robin” head position with ≈ 20° lateral tilt to one side, 20° rotation to the other, and slight (≈ 10°) flexion, reduced range of motion, and facial flattening.

The torticollis caused usually presents as abnormal posturing of the head and neck, with rotation of the chin to the opposite side.

Although the patient cannot reduce the dislocation, they can increase it with head rotation towards the subluxated joint with potential injury to the high cervical cord.

Brainstem and cerebellar infarction and even death may occur with the compromise of circulation through the VAs 7).

Pediatric emergency physicians must have a high clinical suspicion for atlantoaxial rotatory subluxation (AARS), particularly when a child presents with neck pain and an abnormal head posture without the ability to return to a neutral position. As shown in the neurosurgical literature, timely diagnosis and swift initiation of treatment have a greater chance of treatment success for the patient. However, timely treatment is complicated because torticollis can result from a variety of maladies, including: congenital abnormalities involving the C1-C2 joint or the surrounding supporting muscles and ligaments, central nervous system abnormalities, obstetric palsies from brachial plexus injury, clavicle fractures, head and neck surgery, and infection. The treating pediatrician must discern the etiology of the underlying problem to determine both timing and treatment paradigms, which vary widely between these illnesses.

Kinon et al., present a comprehensive review of AARS that is intended for pediatric emergency physicians. Management of AARS can vary widely bases on factors, such as duration of symptoms, as well as the patient’s history. The goal of this review is to streamline the management paradigms and provide an inclusive review for pediatric emergency first responders 8).

X-rays : Findings (may be confusing) include:

● pathognomonic finding on AP C-spine X-ray in severe cases: frontal projection of C2 with simultaneous oblique projection of C1. In less severe cases, the C1 lateral mass that is forward appears larger and closer to the midline than the other

● asymmetry of the atlantoaxial joint that is not correctable with head rotation, which may be demonstrated by persistence of asymmetry on open mouth odontoid views with the head in neutral position and then rotated 10–15° to each side

● the spinous process of the axis is tilted in one direction and rotated to the other (may occur in torticollis of any etiology)

CT scan: Demonstrates rotation of the atlas.

MRI: May assess the competence of the transverse ligament.

Deformity of the superior facet of the axis (C2) and >20° of lateral inclination of the atlas observed on 3D CT are known factors in the progression to intractable 9).

The vertebral artery (VA) may be compromised in excessive rotation, especially if it is combined with anterior displacement.

Atlanto-occipital rotatory subluxation and facet deformity in the atlanto-occipital joint may occur after prolonged Atlantoaxial rotatory fixation . It is necessary to pay attention to pathological changes not only in the atlantoaxial joint but also in the atlanto-occipital joint, when treating patients with Atlantoaxial rotatory fixation 10).

In seventeen cases of irreducible atlanto-axial rotatory subluxation (here called fixation), the striking features were the delay in diagnosis and the persistent clinical and roentgenographic deformities. All patients had torticollis and restricted, often painful neck motion, and seven young patients with long-standing deformity had flattening on one side of the face. The diagnosis was suggested by the plain roentgenograms and tomograms and confirmed by persistence of the deformity as demonstrated by cineroentgenography. Treatment included skull traction, followed by atlanto-axial arthrodesis if necessary. Of the thirteen patients treated by atlanto-axial arthrodesis, eleven had good results, one had a fair result, and one had not been followed for long enough to determine the result. Of the remaining four patients, one treated conservatively had not been followed for long enough to evaluate the result, two declined surgery, and one died while in traction as the result of cord transection produced by further rotation of the atlas on the axis despite the traction 11).

Atlantoaxial rotational fixation (AARF) is a rare entity in adults, with only a few cases reported in the English literature and often associated with a traumatic mechanism. It is an underdiagnosed condition that must be taken into account in the initial assessment of all craniocervical trauma. Both diagnostic and therapeutic delay may be a potential cause of severe neurological damage or even death of the patient. The therapeutic management is controversial given the difficulty of achieving optimum stability and permanent reduction.

The atlantoaxial rotatory fixation (AARF) and the atlantoaxial rotatory subluxation (AARS) are the most frequent manifestations of atlantoaxial rotatory dislocation (AARD) in children, and conservative treatment has proved to be suitable in many cases, considering the pathological features of these type of injuries. In literature, there is no agreement on the treatment modalities and the timing of conservative treatment.

A 28-year-old woman was involved in a traffic accident a week before coming to the emergency with rotation and irreducible cervical flexion from trauma and severe neck pain. CT and MRI column were performed and showed a cervical spinal AARF with transverse and alar ligaments intact and preserved atlantoaxial distance (Fielding I). The patient was treated by progressive cervical traction with 5 kg and manual reduction was completed in 24 h. Subsequently, an external immobilization was performed by cervical rigid collar for 16 weeks. The clinical course was good, with the patient regaining full mobility with cervical neck pain improvement.

The purpose of this paper is to show a case of a young woman with a posttraumatic AARF successfully treated conservatively. This case delineates the difficulties in diagnosing this pathology, as well as the challenges encountered in its management 12).

A 2-year-old boy with Crouzon Syndrome undergoing posterior calvarial vault expansion (PVE) surgery developed AARF as a complication.

Results: The authors believe that cranial vault surgery should be considered a potential risk procedure for AARF, especially if it is done in susceptible populations (syndromic craniosynostosis patients) with other underlying sequelae (tonsillar ectopia or syringomyelia). During surgery, careful attention should be paid to maintaining a neutral alignment of the patient’s cervical spine as rotatory movements under anesthesia and muscle relaxation may be contributory factors.

AARF should be suspected and investigated in children with painful torticollis after craniofacial surgery 13).

1) , 3) , 6)

Fielding JW, Hawkins RJ. Atlanto-Axial Rotatory Fixation. (Fixed Rotatory Subluxation of the Atlanto- Axial Joint). J Bone Joint Surg. 1977; 59A:37–44

Lourie H, Stewart WA. Spontaneous atlantoaxial dislocation: a complication of rheumatic disease. N Engl J Med. 1961; 265:677–681

Wetzel FT, La Rocca H. Grisel’s syndrome. Clin Orthop. 1989:141–152

Fielding JW, Stillwell WT, Chynn KY, et al. Use of computed tomography for the diagnosis of atlantoaxial rotatory fixation. J Bone Joint Surg. 1978; 60A: 1102–1104

Schneider RC, Schemm GW. Vertebral artery insufficiency in acute and chronic spinal trauma. With special reference to the syndrome of acute central cervical spinal cord injury. J Neurosurg. 1961; 18: 348–360

Kinon MD, Nasser R, Nakhla J, Desai R, Moreno JR, Yassari R, Bagley CA. Atlantoaxial Rotatory Subluxation: A Review for the Pediatric Emergency Physician. Pediatr Emerg Care. 2016 Oct;32(10):710-716. PubMed PMID: 27749670.

Ishii K, Chiba K, Maruiwa H, Nakamura M, Matsumoto M, Toyama Y. Pathognomonic radiological signs for predicting prognosis in patients with chronic atlantoaxial rotatory fixation. J Neurosurg Spine. 2006 Nov;5(5):385-91. doi: 10.3171/spi.2006.5.5.385. PMID: 17120886.

Kashii M, Masuhara K, Kaito T, Iwasaki M. Rotatory Subluxation and Facet Deformity in the Atlanto-occipital Joint in Patients with Chronic Atlantoaxial Rotatory Fixation: Two Case Reports. J Orthop Case Rep. 2017 Nov-Dec;7(6):59-63. doi: 10.13107/jocr.2250-0685.950. PMID: 29600213; PMCID: PMC5868886.

Fielding JW, Hawkins RJ. Atlanto-axial rotatory fixation. (Fixed rotatory subluxation of the atlanto-axial joint). J Bone Joint Surg Am. 1977 Jan;59(1):37-44. PubMed PMID: 833172.

García-Pallero MA, Torres CV, Delgado-Fernández J, Sola RG. Traumatic atlantoaxial rotatory fixation in an adult patient. Eur Spine J. 2017 Jan 11. doi: 10.1007/s00586-016-4916-3. [Epub ahead of print] PubMed PMID: 28078473.

Saenz A, Silva AHD, Jeelani NUO, James G, Tahir MZ. A rare case of atlantoaxial rotatory fixation after posterior calvarial vault expansion surgery in a Crouzon patient. Childs Nerv Syst. 2022 May 16. doi: 10.1007/s00381-022-05554-z. Epub ahead of print. PMID: 35578116.
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