Medulloblastoma Presenting Research Articles

Adult‐onset medulloblastoma presenting with atypical MRI findings

AbstractWe report an extremely rare case of an 18‐year‐old girl with chronic progressive speech and gait disturbances due to abnormalities around the fourth ventricle, diagnosed as classic medulloblastoma with WNT signaling dysregulation by brain biopsy. Brain MRI showed atypical findings of symmetrical midline located adult medulloblastoma with no mass effect. PET‐CT scans revealed marked uptake of only 11C‐methionine. Medulloblastoma with atypical MRI findings should be considered in the differential diagnosis of tumors around the fourth ventricle in adults, even approximately symmetrical midline tumors with no mass effect. 11C‐methionine PET‐CT may be superior in detecting adult medulloblastomas with unique characteristics.

Paroxysmal Sympathetic Hyperactivity – An Under-Recognized Entity in Pediatric Brain Tumors: Case Report and Review of Literature

AbstractParoxysmal sympathetic hyperactivity (PSH) is not a well-recognized syndrome in pediatric brain tumors, but has been described in adults with traumatic brain injury. We describe the case of a child with medulloblastoma presenting with PSH. An index of suspicion is important in early diagnosis of PSH and this ultimately has an impact on the long-term outcome of patients with the syndrome.

Adult Medulloblastoma Presenting with Extensive Supratentorial Metastasis with Radiographically Occult Infratentorial Disease: Case Report and Review of the Literature

This case represents the unique occurrence of supratentorial dissemination of medulloblastoma in the absence of overt cerebellar disease. The authors present the case of a 64-year-old man who presented with headaches and intractable nausea with imaging abnormality seen only in the bilateral caudate. Follow-up imaging studies revealed a cerebellar lesion later confirmed by biopsy to be medulloblastoma. Subsequent biopsy of the originally evaluated caudate lesion demonstrated histologically identical medulloblastoma. Medulloblastoma should be considered in cases of supratentorial masses of unclear origin and should prompt careful inspection of the posterior fossa.

Extra-axial Cerebellopontine Angle Adult Medulloblastoma: An Unusual Presentation at an Unusual Site

AbstractMedulloblastoma is a rare adult primary brain tumor and its presence in the cerebellopontine angle (CPA) constitutes an even rarer site for origin. There are only 40 reported cases of CPA medulloblastoma in the literature, with most being intra-axial and occurring in the pediatric population. Extra-axial CPA medulloblastoma in adults are extremely rare and only 10 adult cases have been reported in world literature.We report a rare case of primary extra-axial CPA medulloblastoma occurring in an adult. We review the literature for such an unusual presentation of medulloblastoma in adults and discuss its appropriate clinico-radiological features along with its possible pathogenesis and surgical management.With increasing reporting of such tumors, CPA region, medulloblastoma should be considered a differential diagnosis of intra-axial or extra-axial CPA tumor, as their further management and prognosis differ significantly. Adjuvant radiotherapy and combined chemotherapy regimen should be added to the postoperative management.

Turcot Syndrome: A Synchronous Clinical Presentation of Medulloblastoma and Lower Rectal Tumor

We report the case of a 16-year-old patient who was operated for medulloblastoma with simple operative followup after radio and chemotherapy. Two years later, she was admitted, in a state of cachexia, for abdominal pain and rectorrhagia. The explorations found an infected lower rectal tumor. The patient underwent an urgent surgery. Immediate consequences were marked by the installation of a severe septic shock causing the patient’s death.

Post-operative paediatric cerebellar mutism syndrome: time to move beyond structural MRI

PurposeTo determine the value of structural magnetic resonance imaging (MRI) in predicting post-operative paediatric cerebellar mutism syndrome (pCMS) in children undergoing surgical treatment for medulloblastoma.MethodsRetrospective cohort study design. Electronic/paper case note review of all children with medulloblastoma presenting to Great Ormond Street Hospital between 2003 and 2013. The diagnosis of pCMS was established through a scoring system incorporating mutism, ataxia, behavioural disturbance and cranial nerve deficits. MRI scans performed at three time points were assessed by neuroradiologists blinded to the diagnosis of pCMS.ResultsOf 56 children included, 12 (21.4%) developed pCMS as judged by a core symptom of mutism. pCMS was more common in those aged 5 or younger. There was no statistically significant difference in pre-operative distortion or signal change of the dentate or red nuclei or superior cerebellar peduncles (SCPs) between those who did and did not develop pCMS. In both early (median 5 days) and late (median 31 months) post-operative scans, T2-weighted signal change in SCPs was more common in the pCMS group (p = 0.040 and 0.046 respectively). Late scans also showed statistically significant signal change in the dentate nuclei (p = 0.024).ConclusionsThe development of pCMS could not be linked to any observable changes on pre-operative structural MRI scans. Post-operative T2-weighted signal change in the SCPs and dentate nuclei underlines the role of cerebellar efferent injury in pCMS. Further research using advanced quantitative MRI sequences is warranted given the inability of conventional pre-surgical MRI to predict pCMS.

Low Back Pain and Paraplegia as Initial Clinical Presenting of Medulloblastoma: A Case Report

Introduction: Medulloblastoma is one of the most common malignancies in children. Common clinical symptoms of patients are related to the symptoms due to tumor in the posterior cranial fossa. Presentation of patients with symptoms related to metastatic tumors in the spinal canal are unusual. Case Presentation: We present a 6-year-old child with symptoms of lower back pain and Paraplegia as early symptoms of medulloblastom. The Magnetic Resonance Image (MRI) of spinal cord revealed multiple tumors in the spinal canal (initially diagnosed). A biopsy of the tumor was also performed. Then, whole CNS (Central Nervous System) imaging revealed tumor in the posterior cranial fossa. He had a dramatic improvement after treatment and returned to normal in all clinical signs. Four years have passed from his treatment and he is symptom free. Conclusions: Presentation of Medulloblastoma with widespread spinal canal drop metastases is rare. However, spinal drop metastasis should be considered to prevent a suboptimal management in child. These patients did not consider in aspect of the treatment outcome as hopeless.

Medulloblastoma of the Cerebellopontine Angle in a Child: A Case Report and Review of the Literature

Cerebellopontine angle medulloblastoma is a very uncommon presentation of medulloblastoma, especially in children. We report such a case in a 14-year-old boy. Clinical onset by acute hearing loss and MRI features were, furthermore, unusual findings. The tumour had an homogeneous signal on T1 and FLAIR sequences a high-signal intensity on diffusion-weighted images with slightly restricted ADC value (0.85 × 10³ mm²/s) and enhanced slightly and homogeneously after contrast. A subtotal removal of the tumour, followed by entire neuroaxis irradiation and chemotherapy were achieved. MRI data of the literature reported cases were reviewed. Features on conventional MRI sequences do not allow differentiating CPA medulloblastoma from other rare tumour of this location. We point out that ADC value and Spectroscopy might be useful differentiating CPA tumours, especially from ependymoma in children.

Duration of the pre‐diagnostic interval in medulloblastoma is subgroup dependent

Children presenting with medulloblastoma have a wide range of initial presenting symptoms. However, the influence of underlying tumor biology on the initial presentation of medulloblastoma is currently unknown. In light of the recent discovery of distinct medulloblastoma subgroups, we sought to define the initial presentation of childhood medulloblastoma in a subgroup specific manner. We assembled a cohort of 126 medulloblastoma cases at the Hospital for Sick Children between 1994 and 2012 and determined subgroup affiliation using nanoString. Clinical details pertaining to the initial presentation were determined through a retrospective chart review. The median pre-diagnostic interval across all medulloblastoma cases was 4 weeks (IQR: 4-12 weeks). Strikingly, when the pre-diagnostic interval was then determined in a subgroup specific manner, cases with WNT and Group 4 tumors showed significantly longer median pre-diagnostic intervals of 8 weeks compared to 2 weeks for SHH and 4 weeks for Group 3 (P = 0.0001). Younger age was significantly associated with a prolonged pre-diagnostic interval (P = 0.02 for all). When stratifying by subgroup the association with age was only significant in Group 4 (P = 0.04 for Group 4). Improved survival was significantly associated with a longer pre-diagnostic interval (P = 0.02), however is no longer significant when controlling for subgroup (P = 0.07). The duration of the pre-diagnostic interval in childhood medulloblastoma is highly subgroup dependent, further highlighting the clinical heterogeneity and biological relevance of the four principle subgroups of medulloblastoma.

Isolated Sensorineural Hearing Loss as Initial Presentation of Recurrent Medulloblastoma: Neuroimaging and Audiologic Correlates

Isolated Sensorineural Hearing Loss as Initial Presentation of Recurrent Medulloblastoma: Neuroimaging and Audiologic Correlates

Multifocal presentation of medulloblastoma in adulthood

Medulloblastoma in adulthood is uncommon but not rare; annual incidence is 2-20/1,000,000. Some peculiarities characterize medulloblastoma in adult patients compared with the child type: lateral cerebellar location, heterogeneous signal intensity on magnetic resonance imaging, desmoplastic histological variant, and more favourable prognosis. Preoperative diagnosis is crucial for correct management of these patients. However, because of the low incidence of medulloblastoma in the adult population, preoperative diagnosis remains challenging and prognostic factors and best treatment options are still controversial. In this setting, some unusual findings, for example multifocal presentation and extra-axial location, can confound diagnosis and make treatment difficult. We present a short case-illustrated review on these remarkable issues.

Medulloblastoma presenting as consecutive esotropia after successful lateral rectus muscle recession for infantile exotropia

Comitant infantile exotropia is a rare entity and is far less common than infantile esotropia. It has been shown to be highly correlated with intracranial pathology. We report a case of a medulloblastoma in a child in whom it presented as an incomitant esotropia after surgical correction for comitant infantile exotropia.

Medulloblastoma presenting as dialysis disequilibrium syndrome

Dialysis disequilibrium syndrome (DDS) is a central nervous system disorder that occurs during or after hemodialysis. This is caused by brain edema that manifests as neurological symptoms that include headache, emesis, nausea, blurring of vision, disturbed consciousness, tremors and seizures, and in severe cases, death. The incidence of DDS is very high among patients with preexisting neurological diseases. There has been much debate about the origin of DDS. We report a case of DDS, as presenting syndrome of a medulloblastoma in a child aged 5 years, and discuss the pathogenesis and the possible role of DDS for an earlier detection of occult brain lesions in dialyzed patients.

Medulloblastoma Presenting With Pure Word Deafness: Report of One Case and Review of Literature

Pure word deafness (PWD) is a rare disorder characterized by impaired verbal comprehension sparing discrimination and recognition of nonverbal sounds with relatively normal spontaneous speech, writing, and reading comprehension. Etiologies of this syndrome are varied, and there are rare reports about brain tumor with PWD in children. We report a case of medulloblastoma presented with PWD in a 7-year-old girl. She visited our outpatient clinic because of English dictation performance deterioration. PWD was diagnosed by the otolaryngologist after examinations. Posterior fossa tumor and obstructive hydrocephalus were shown in the magnetic resonance imaging of the brain. The diagnosis of medulloblastoma was then made by pathology.

Medulloblastoma presenting as a non-lateralized calcified stone like mass in an adult

Medulloblastoma presenting as a non-lateralized calcified stone like mass in an adult

Preoperative diffuse leptomeningeal spread in a medulloblastoma: Paraplegia following surgery for posterior fossa and call for newer management protocols

Management of patients with medulloblastoma presenting with multiple metastasis in subarachnoid space preoperatively is unclear. An 11–year-old boy presented with vermian medulloblastoma with an unusually long segment cervico-dorsal lesion and suprasellar lesion. The child underwent a posterior fossa craniotomy (prone position) and excision of vermian mass. He developed paraplegia in the immediate postoperative period, the possible causes for which are being discussed. Besides, treatment options for patients presenting with disseminated disease preoperatively have been highlighted. Preoperative chemotherapy to downstage such lesions may be tried and such complications could be avoided.

Adult medulloblastoma and the “dural-tail” sign: Rare mimic of a posterior petrous meningioma

The authors describe clinical and radiological features of a 32-year-old male patient with a posterior fossa lesion. The radiological characteristics resembled an extra-axial lesion; a meningioma, with attachment to the tentorium and petrous bone. The histological diagnosis was classical medulloblastoma. We review literature of this atypical presentation of medulloblastoma and “dural-tail” sign, which can be associated with other benign or malignant lesions. The role of magnetic resonance spectroscopy in the diagnosis of primitive neuroectodermal tumors is discussed.

A female survivor of childhood medulloblastoma presenting with growth-hormone-induced edema and inflammatory lesions: a case report

IntroductionThe improved survival of children with brain tumors has increased concerns about treatment-related sequelae. Growth hormone deficiency is frequently observed after craniospinal irradiation for medulloblastoma. It has been widely reported that growth hormone replacement therapy does not increase the risk of second tumors, but there are reports in the literature of growth hormone, and its downstream mediator insulin-like Growth Factor 1, having an important proinflammatory action. There are few reports, however, on the "in-vivo" induction of edema and symptomatic inflammatory lesions during replacement therapy.Case presentationWe report the case of a 7-year-old girl treated for metastatic medulloblastoma who developed growth hormone deficiency 2 years after oncological treatment.Three months after replacement therapy, magnetic resonance imaging showed exacerbation of her brain edema, which was already present after oncological treatment. We consequently suspended the growth hormone until a new magnetic resonance image obtained 3 months later documented a reduction of the inflammatory areas. We then re-introduced somatotropin at lower doses with no further increase in brain edema in subsequent radiological controls.ConclusionThis case and its iconography suggest a strong association between growth hormone administration and the exacerbation of inflammatory reactions within the tumor bed. Replacement therapy should be carefully monitored in this particular subset of patients.

Undiagnosed medulloblastoma presenting as fatal hemorrhage in a 14-year-old boy: case report and review of the literature

A 14-year-old boy with no significant medical history presented to the emergency room with a sudden onset of severe headache of 1 day's duration. On admission, a non-contrast computed tomography (CT) of the head showed a posterior fossa hemorrhagic mass. He was immediately intubated and underwent placement of an external drainage tube. A magnetic resonance imaging (MRI) was performed, which showed a large hemorrhagic mass with upward cerebellar herniation. Despite aggressive measures, he deteriorated and was pronounced brain dead 2 days after admission. Pathological examination of the mass revealed a medulloblastoma with extensive neuronal and astrocytic differentiation. This case represents one of the few cases of rapid, hemorrhagic expansion associated with a previously undiagnosed medulloblastoma. The topic of hemorrhage due to previously unrecognized brain tumors is discussed and the value of imaging methods used in the diagnostic assessment is emphasized.

Atypical Cerebellar Medulloblastoma Originating from Tentorium: Case Report

－Abstract－ The extraaxial presentation of a medulloblastoma is rare. This article describes the case of a 12-year-old boy who presented with severe headache, nausea, and vomiting. The tumor developed in the left tentorium; it was misdiagnosed as a meningioma based on the radiology examination. We review the literature and discuss the atypical presentation of medulloblastoma.