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CNS tumours
Published in Peter Hoskin, Peter Ostler, Clinical Oncology, 2020
These are rare tumours. Characteristically, they present with obstructive hydrocephalus owing to their proximity to the CSF ventricular outflow pathway, or ocular palsies, especially paralysis of upward gaze (Parinaud's syndrome). Surgery is particularly difficult and hazardous in this region. A ventriculoperitoneal shunt may be required. Germinomas and astrocytomas are the commonest tumours in the pineal region. Rarer, intrinsic tumours of the pineal gland include: Pinealoma: This is the most common pineal tumour with a peak incidence at 15–25 years. It is slow growing, well circumscribed, non-invasive, and treated by surgical excision.Pineoblastoma: This is much more aggressive than pinealoma, CSF dissemination being a frequent complication.
The Pineal Gland and Melatonin
Published in George H. Gass, Harold M. Kaplan, Handbook of Endocrinology, 2020
Jerry Vriend, Nancy A.M. Alexiuk
The most common type of pineal region tumor are the germinomas.596 This tumor may also be found in the anterior part of the third ventricle, in which case it may be referred to as an ectopic pinealoma. Morphologically pineal germinomas are similar to germinoma and seminoma occurring in the gonads and in extragonadal sites.597,598 The cells of origin of these tumors have not been definitively identified. Magnetic resonance imaging reportedly is able to distinguish germinomas from pineoblastomas.599
Mickey
Published in Walter J. Hendelman, Peter Humphreys, Christopher R. Skinner, The Integrated Nervous System, 2017
Walter J. Hendelman, Peter Humphreys, Christopher R. Skinner
For this question, we return to case 9e-4: a 13-year-old boy with a pineal region tumor, or pinealoma. Once the diagnosis had been made, he underwent a surgical removal of his tumor: a complex, difficult procedure as the pineal gland area is located in virtually the geographic centre of the head above the rostral end of the midbrain and just posterior to the roof of the third ventricle. When he awoke from the surgery, his caregivers gradually realized that he was severely amnestic. Five days after the procedure, he was unable to recall events that had occurred during the last 24 hours prior to surgery and – even more distressing – he had no recollection of anything that had happened since surgery notwithstanding the fact that he appeared alert and was able to converse normally. Over the succeeding 10 days, his ability to recall recent events (new people he had met; what he had eaten at mealtimes that day, etc.) gradually returned to normal. What do you think caused his transient disturbance in memory registration?
Report of clinical presentations and two novel mutations in patients with Wiskott-Aldrich syndrome/X-linked Thrombocytopenia
Published in Platelets, 2022
Natsumon Udomkittivorakul, Duangrurdee Wattanasirichaigoon, Wiparat Manuyakorn, Pongpak Pongphitcha, Arthaporn Khongkraparn, Padcha Tunlayadechanont, Nongnuch Sirachainan
Patient 7 with p.Thr45Met mutation developed malignancy. The reported common malignancies in WAS/XLT were lymphoreticular malignancies; however, non-lymphoreticular malignancies, including pinealoma, were also reported [5,12–14]. Patient 7 had pineoblastoma, which was the malignant pineal tumor and developed in early age at 3.5 years, while the age onset of malignancy from previous reports was 9.5 years in WAS [13] and 34.0 years in XLT [5]. To our knowledge, pineoblastoma associated with p.Thr45Met mutation has never been reported [5,6,13,17,18]. Although, there is a possibility of co-incidence of pineoblastoma and XLT because the age of onset of pineoblastoma in children was similar to this patient [19] .
Large-vessel vasculitis induced by granulocyte colony-stimulating factor administration after chemotherapy
Published in Modern Rheumatology Case Reports, 2021
Koichiro Yamamoto, Nayu Tamura, Kosuke Oka, Kou Hasegawa, Hideharu Hagiya, Madoka Hokama, Joji Ishida, Fumio Otsuka
Differential diagnosis of vasculitis is generally challenging; infection, chemotherapy, autoimmune diseases such as Takayasu arteritis (TAK) and giant cell arteritis (GCA), and cancer should be considered other than G-CSF. It is well known that TAK occurs before the age of 40 years and GCA occurs after the age of 50 years and that both diseases occur more frequently in women than in men [11]. G-CSF-associated arteritis has been reported to develop frequently in women over the age of 50 years, which may overlap the characteristics of TAK and GCA. On the other hand, it is also a fact that patients undergoing chemotherapy who are administered G-CSF are often over the age of 50 years [3,11]. Thus, it is difficult to determine a possible case of G-CSF-associated arteritis solely by their backgrounds. In the clinical course, she did not present hypertension, diminished peripheral pulses, or limb claudication, which are typical features of TAK. Our patient’s HLA genotype was B51:01, not B52, which has a risk for TAK. HLA-B51 is associated with Behçet’s disease, which can be involved in vasculitis; however, the present case did not show any specific symptom of Behçet’s disease such as ocular lesions, oral aphthosis, or skin lesions, indicating that complication of Behçet's disease was unlikely. MRI study from the level of the cervical spine to lumbar spine performed before chemotherapy did not reveal sacroiliitis or metastasis of the pinealoma. Progression or recurrence of our patient’s pineal tumour was not found by CECT and MRI follow-up examinations. We did not find any contribution of an infectious disease as an aetiology, since there were no test results indicating infection and broad-spectrum antibiotic therapy yielded no good response. Thereby, we concluded that G-CSF itself was associated with arteritis.