Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0344232 (blurred vision)
 2,072 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Though most of ectopic pinealoma occurs in the midline of cerebral base, only ten cases of frontal subcortical germinomas were reported in Japan as far as we know in literature. The patient, 20 year-old male, was admitted to our hospital because of blurred vision of the right eye and somnolence. Neurological examination on admission revealed bilateral choked discs and impaired visual acuity of both eyes with visual field defect of the right eye. A large deep bifrontal tumor was noted by cerebral angiography and pneumoventriculography done at the time of ventricular drainage. After subtotal removal of left frontal tumor and bifrontal V-P shunt, he came alert. No abnormality of posterior part of third ventricle was noted on the post-operative pneumonencephalogram. As the microscopic examination revealed that the tumor was germinoma of two-cell pattern, Co60 with a total dose of 5,900 rads was irradiated to the rest of the tumor. Brain scan with Tc99m 6 months after the surgery showed the disappearance of the tumor and CT scan 3 years later confirmed no recurrence of the tumor. Fine structure of the tumor was also presented and discussed.
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PMID:[A case of large germinoma in bilateral frontal region (author's transl)]. 739 99

We describe a case of primary intracranial medulla oblongata germinoma in a 16-year-old girl who presented with progressive headache and blurred vision. Magnetic resonance imaging demonstrated a heterogeneous exophytic mass arising from dorsal aspect of medulla oblongata with extension into fourth ventricle. The differential diagnosis for this patient had included ependymoma, exophytic glioma, medulloblastoma and choroid plexus papilloma. After surgical resection and radiation therapy, she remains alive and recurrence-free for 7 years.
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PMID:Primary medulla oblongata germinoma: a case report and review of the literature. 1277 87

We encountered a rare case of neurohypophyseal germinoma with a prominent granulomatous reaction, which invaded the right cavernous sinus. The neuroimaging and histopathology features in this case were unique, distinguishing it from other types of suprasellar lesions. A 13-year-old boy presented with loss of appetite and polyuria; both symptoms were present for 1 year, and headache, general fatigue and blurred vision present for the prior 2 months. On admission, neurological examination indicated bitemporal hemianopsia and optic atrophy. Endocrinological exam showed panhypopituitarism. Tumor markers such as alpha-fetoprotein, human growth hormone, carcinoembryonic antigen, and placental alkaline phosphatase were negative. Brain CT revealed a suprasellar tumor with calcification. MR T(1)-weighted and T(2)-weighted images showed the tumor to be isointense to normal brain parenchyma and to be enhanced densely. The tumor also involved the right cavernous sinus, so that a biopsy was performed by the transsphenoidal approach. On pathologic examination of the specimen, typical large tumor cells with lymphocytic cell infiltration and prominent granulomatous reaction were observed. Neurohypophyseal granulomatous germinoma was diagnosed. Radiotherapy was performed with a total dose of 51 Gy and the tumor shrank remarkably. The patient returned to school under hormone replacement therapy.
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PMID:Neurohypophyseal granulomatous germinoma invading the right cavernous sinus: case report and review of the literature. 1762 46

A 23 year-old patient was referred to the endocrine outpatient clinic with the suspicion of diabetes insipidus as he complained of nycturia and polydipsia since 2-3 months. Further he presented with nausea, vomiting, loss of appetite, rapid weight loss, diffuse body pain and fatigue. No headache, blurred vision, or fever were reported. The clinical examination showed sexual infantilism (poor beard, pubic and axillary hair growth, small testis). The patient's skin was strikingly pale as well as dry and scaly. Lymph node palpation was unremarkable. Endocrine evaluation revealed diabetes insipidus as well as complete anterior pituitary insufficiency. MR imaging demonstrated contrast-enhancing mass lesions at the pineal gland, hypothalamus, and anterior horn of lateral ventricles bilaterally. The localization pattern deemed to be highly suspicious for intracranial germinoma. As beta-HCG and AFP were negative in serum and cerebrospinal fluid the diagnosis of germinoma was confirmed histologically. After radiotherapy with cranio-spinal radiation therapy with 24 Gy followed by two weeks of local tumor boost with 16 Gy, the posttherapy MRI scan indicated complete tumor removal. This case demonstrates a very rare and potentially curable tumor as the cause of panhypopituitarism in adults.
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PMID:Intracranial germinoma as a very rare cause of panhypopituitarism in a 23-year old man. 1905 25

A 17-year-old male was found to have a fourth cranial nerve palsy and chronic papilloedema following his presentation to our institution with a 6-week history of blurred vision in both eyes and vertical binocular diplopia. A diagnosis of pineal germinoma was made following imaging studies and endoscopic neurosurgical biopsy of the tumour. He was diagnosed with Attention Deficit Hyperactivity Disorder (ADHD) 3 years earlier and treated with amphetamines. Since this diagnosis, he continued to suffer from hyperactive behaviour, poor concentration, worsening headaches and insomnia. Pineal pathology has a known association with sleep disturbance through the disturbance of melatonin synthesis and/or metabolism. This case report serves to highlight how the presence of organic brain disease presenting to an eye department can be masked by a diagnosis of ADHD.
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PMID:Attention deficit hyperactivity disorder: diagnosis and treatment masking the ophthalmic clinical presentation of a pineal gland tumour in a teenager. 2022 1

Desmoplastic myxoid tumor (DMT), SMARCB1 mutant is a recently proposed new entity that mainly occurs in the pineal region and has epigenetic features similar to those of atypical teratoid/rhabdoid tumors (AT/RT)-MYC and poorly differentiated chordomas. Herein, we present a new case of a 33-year-old man with headaches, dizziness, nausea, vomiting, and blurred vision, who was initially found to have a suspicious germinoma on imaging. After surgical removal of the lesion, the postoperative pathological diagnosis was DMT, SMARCB1 mutant. To the best of our knowledge, this is the first case reported in China. Our findings also extend the range of the immunohistochemical phenotype of this rare tumor.
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PMID:A case of desmoplastic myxoid tumor, SMARCB1 mutant, in the pineal region. 3290 46