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World Journal of Clinical Cases Apr 2024Suprasellar germinomas are rare intracranial tumors frequently associated with permanent endocrine disorders. We present the clinical picture, treatment, and...
BACKGROUND
Suprasellar germinomas are rare intracranial tumors frequently associated with permanent endocrine disorders. We present the clinical picture, treatment, and complications of suprasellar germinoma at pediatric age which, besides being life-threatening, has lifelong endocrinological consequences.
CASE SUMMARY
A 12-year-old female patient was presented having had intensive headaches for three weeks and visual disturbances for six months. An ophthalmological examination revealed bilateral papilledema and a marked loss of vision. Emergency brain magnetic resonance imaging (MRI) showed a suprasellar tumor, involving the infundibulum and the optic chiasm, extending to the third ventricle. Laboratory tests confirmed decreased levels of thyroxine, cortisol, gonadotropins, and insulin-like growth factor 1. Maximal tumor reduction was performed, and immunohistopathology established the diagnosis of suprasellar germinoma. MRI of the spine and cerebrospinal fluid cytology confirmed the localized disease. Adjuvant chemotherapy and radiotherapy were performed according to the SIOP CNS GCT II protocol. A post-treatment MRI showed no residual tumor, but pituitary function had not recovered. Three and a half years after the end of the treatment, the patient is in a complete remission, requiring hormonal replacement therapy, continuous education, and psychological support.
CONCLUSION
This complex case highlights the importance of timely diagnosis, a multidisciplinary approach, and close follow-up in children with suprasellar germinomas.
PubMed: 38660086
DOI: 10.12998/wjcc.v12.i10.1844 -
JCEM Case Reports Nov 2023Crooke cell adenoma (CCA) is a rare and aggressive subtype of a corticotroph adenoma, which requires lifetime surveillance. There have been 106 cases of CCAs reported in...
Crooke cell adenoma (CCA) is a rare and aggressive subtype of a corticotroph adenoma, which requires lifetime surveillance. There have been 106 cases of CCAs reported in the English literature. We describe 2 cases of CCA, a 48-year-old man and an 84-year-old woman who both presented with binocular diplopia and temple pain. Neither case had clinical Cushing syndrome. Laboratory values for the 48-year-old man revealed, adrenocorticotropin (ACTH) 103 pg/mL (22 pmol/L) (RR: 7-63 pg/mL) and evening cortisol 14 µg/dL (386 nmol/L) (RR: 2.7-10.5 µg/dL). Computed tomography imaging demonstrated a mass adjacent to the right cavernous sinus extending into the sphenoid sinus. He underwent tumor resection with adjuvant radiation and has had a stable residual tumor for 4 years. Preoperative laboratory values for the 84-year-old woman revealed, ACTH 69 pg/mL (15 pmol/L) (RR: 7-63 pg/mL) and evening cortisol 16.2 µg/dL (447 nmol/L) (RR: 2.7-10.5 µg/dL). Brain magnetic resonance imaging revealed, a mass compressing the optic chiasm. She underwent resection and has had a stable residual tumor for 2 years. Surgical pathology in both cases revealed cytoplasmic hyaline deposits of more than 50% of the tumor cells, consistent with CCA. The CCA although rare, should be considered when evaluating cases with subclinical Cushing disease and visual symptoms.
PubMed: 38021080
DOI: 10.1210/jcemcr/luad114 -
BMC Ophthalmology Mar 2024Acute retinal pigment epitheliitis (ARPE) is a rare, idiopathic and self-limiting disease. The article aims to present ARPE in a patient using D2 dopamine receptor...
BACKGROUND
Acute retinal pigment epitheliitis (ARPE) is a rare, idiopathic and self-limiting disease. The article aims to present ARPE in a patient using D2 dopamine receptor agonists for the treatment of hyperprolactinemia.
CASE PRESENTATION
A 28-year-old female during hyperprolactinaemia treatment suffered from a dyschromatopsia and a central visual field defect in the left eye. She noticed a deterioration of vision and discontinued the cabergoline administration. The woman had not been diagnosed with other chronic conditions and exhibited no symptoms of infection. Upon admission, the patient was subjected to a test for COVID-19, which was negative. The ophthalmological examination revealed a decrease in visual acuity to distance in the left eye, which amounted to 18/20 on the Snellen chart. A central scotoma was noted on the Amsler chart and a loss of pigment epithelium was visible on the fundus of the left eye. Fluorescein angiography showed a discrete window defect in the left one, with no signs of leakage. Optical coherence tomography (OCT) scans of the maculae revealed a characteristic change in the photoreceptor layer and retinal pigment epithelium (RPE) in the fovea in the left eye. The electrophysiological tests revealed decreased function of cells in macular region. A magnetic resonance imaging (MRI) of the head and orbits demonstrated an asymmetric pituitary gland without chiasm compression and discrete signal enhancement from the left optic nerve. The patient underwent observation during hospitalisation. She reported improved colour vision and a decreased scotoma in the centre of her visual field. In regular outpatient follow-ups, successive improvements in visual acuity, as well as a decreased RPE damage and outer photoreceptor layer loss during an OCT test were observed.
CONCLUSIONS
A case of ARPE is reported in a patient taking medications for hyperprolactinemia. The role of dopamine receptor antagonists in the photoreceptor function and causation of ARPE needs further evaluation.
Topics: Humans; Female; Adult; Hyperprolactinemia; Retinitis; Visual Fields; Scotoma; Retinal Pigments
PubMed: 38429692
DOI: 10.1186/s12886-024-03366-0 -
American Journal of Ophthalmology Case... Jun 2024This report details the characteristics of a case of bilateral optic neuropathy during treatment with oral lorlatinib for ALK-positive metastatic adenocarcinoma of the...
PURPOSE
This report details the characteristics of a case of bilateral optic neuropathy during treatment with oral lorlatinib for ALK-positive metastatic adenocarcinoma of the lung.
OBSERVATIONS
A 57-year-old woman with metastatic adenocarcinoma of the lung receiving treatment with lorlatinib presented to the ophthalmology urgent care with bilateral loss of vision that had progressed to no light perception over the previous 2 weeks. She was hospitalized for an extensive autoimmune, infectious, neoplastic, and paraneoplastic workup, which revealed enhancement of both optic nerves extending up to the optic chiasm and an area of restricted diffusion in the splenium of the corpus callosum on MRI. Lorlatinib was discontinued by her oncologist and she received treatment with five days of pulse-dose intravenous solumedrol as well as five days of plasmapheresis with gradual improvement in her vision. In follow-up, her vision had improved to 20/40 and 20/30.
CONCLUSION AND IMPORTANCE
There have been few reports describing vision loss associated with lorlatinib, an ALK/ROS1 targeted tyrosine kinase inhibitor used to treat metastatic lung adenocarcinoma. This report details the characteristics of a case of bilateral retrobulbar optic neuropathy as well as the treatment and recovery of such a case. Further exploration is needed in order to improve our understanding of the pathogenesis of this rare but potentially devastating adverse effect.
PubMed: 38707952
DOI: 10.1016/j.ajoc.2024.102063 -
Cureus Nov 2023Giant cell arteritis (GCA) is a medium- and large-vessel systemic vasculitis. It is common among people aged 50 years and older. GCA presents with cranial manifestations...
Giant cell arteritis (GCA) is a medium- and large-vessel systemic vasculitis. It is common among people aged 50 years and older. GCA presents with cranial manifestations of headache, visual symptoms, cerebrovascular events, and systemic manifestations. The diagnosis of GCA is confirmed with a positive temporal artery biopsy. Treatment of GCA consists of high-dose steroids with slow tapering over 18 to 24 months and steroid-sparing therapy to maintain remission. Due to the risk of the most feared complication of GCA, irreversible visual loss, once GCA is suspected, high-dose steroids should be commenced immediately, and a temporal artery biopsy should be done not beyond one to two weeks after starting steroids to avoid the effects of steroids on the result of the temporal artery biopsy. There are orbital radiological findings reported in patients with an atypical presentation of GCA on MRI; these findings include non-specific orbital inflammation, optic nerve inflammation, optic nerve sheath inflammation, and optic chiasm enhancement.
PubMed: 38152789
DOI: 10.7759/cureus.49507 -
Radiology Case Reports Aug 2023Glioma has been previously known as the most common adult brain tumor. Glioma of the optic pathway is predominated by low-grade neoplasms. High-grade glioma in adults is...
Glioma has been previously known as the most common adult brain tumor. Glioma of the optic pathway is predominated by low-grade neoplasms. High-grade glioma in adults is extremely rare. In this study, we present the case of a 46-year-old male patient who developed glioblastoma of the optic chiasm extending along the optic tract. This study aims to discuss several common differential diagnoses of nontumor diffuse lesions in the optic pathway and their clinical symptoms and magnetic resonance imaging findings, which could help navigate management.
PubMed: 37273722
DOI: 10.1016/j.radcr.2023.05.010 -
Cureus Jan 2024We present a case of an adult patient experiencing progressive visual loss. An initial presentation was concerning for neuromyelitis optica with optic chiasm...
We present a case of an adult patient experiencing progressive visual loss. An initial presentation was concerning for neuromyelitis optica with optic chiasm involvement. However, persistent contrast enhancement observed in follow-up brain and orbit images raised suspicion for optic tract malignant neoplasm. Histopathological evolution of optic nerve biopsy confirmed the diagnosis of an optic chiasm glioma. The patient was then referred to oncology for chemotherapy.
PubMed: 38313959
DOI: 10.7759/cureus.51614 -
GMS Ophthalmology Cases 2023Dolichoectatic arterial compression of the anterior visual pathway is a rare but recognized condition. The functional impact, however, is still less clear. We describe a...
Dolichoectatic arterial compression of the anterior visual pathway is a rare but recognized condition. The functional impact, however, is still less clear. We describe a case of a 56-year-old male with diminished visual acuity in the left eye and incongruent inferior visual defect in both eyes caused by dolichoectasia due to a congenital hypoplasia of one horizontal segment of the circle of Willis and subsequent arterial compression of the chiasm and left optic nerve.
PubMed: 37850219
DOI: 10.3205/oc000223 -
Frontiers in Neurology 2023Pituitary adenomas are benign tumors of the anterior pituitary gland for which surgery or pharmacological treatment is the primary treatment. When initial treatment...
Pituitary adenomas are benign tumors of the anterior pituitary gland for which surgery or pharmacological treatment is the primary treatment. When initial treatment fails, radiation therapy should be considered. There are several case reports demonstrating radiation-induced vascular injury. We report an adult patient who presented with headache and diplopia for 6 months and a sellar tumor with optic chiasm compression. The patient received transnasal surgery, and the tumor was partially removed, which demonstrated adenoma. Stereotactic radiosurgery (SRS) was arranged. However, owing to progressive tumor growth, the patient received further transnasal surgery and stereotactic radiosurgery (SRS). After 14 years, the patient reported the sudden onset of headache and diplopia, and a ruptured fusiform aneurysm from the left internal carotid artery with pituitary apoplexy was diagnosed. The patient received transarterial embolization of the aneurysm. There were no complications after embolization, and this patient was ambulatory on discharge with blindness in the left eye and cranial nerve palsies. Aneurysm formation may be a complication of SRS, and it may occur after several years. Further research is needed to investigate the pathogenesis of radiosurgery and the development of cerebral aneurysms.
PubMed: 37602248
DOI: 10.3389/fneur.2023.1219372 -
BioRxiv : the Preprint Server For... Aug 2023Glial cells are essential for proper nervous system development and function. To understand glial development and function, we comprehensively annotated glial cells in a...
Glial cells are essential for proper nervous system development and function. To understand glial development and function, we comprehensively annotated glial cells in a single-cell mRNA-sequencing (scRNAseq) atlas of the developing visual system. This allowed us to study their developmental trajectories, from larval to adult stages, and to understand how specific types of glia diversify during development. For example, neuropil glia that are initially transcriptionally similar in larvae, split into ensheathing and astrocyte-like glia during pupal stages. Other glial types, such as chiasm glia change gradually during development without splitting into two cell types. The analysis of scRNA-seq allowed us to discover that the transcriptome of glial cell bodies can be distinguished from that of their broken processes. The processes contain distinct enriched mRNAs that were validated in vivo. Therefore, we have identified most glial types in the developing optic lobe and devised a computational approach to identify mRNA species that are localized to cell bodies or cellular processes.
PubMed: 37609218
DOI: 10.1101/2023.08.06.552169