Dataset Information

Cerebral Venous Sinus Thrombosis with Bilateral Optic Disc Swelling and Bilateral Sixth Nerve Palsies in the Absence of Headache: A Case Report.

ABSTRACT:

Introduction

We report a case of cerebral venous sinus thrombosis (CVST) that presented with bilateral optic disc swelling and diplopia in the absence of headaches.

Case presentation

A 54-year-old woman with no relevant medical history presented with a 2-week history of diplopia and no loss of visual acuity in each eye. Eye movements revealed bilateral abduction deficits, and fundoscopic examination revealed bilateral optic disc swelling. Non-contrast computed tomography of the head showed no abnormalities. Magnetic resonance venography revealed the absence of flow in the superior sagittal and left transverse sinuses as a consequence of thrombosis. The patient was diagnosed with intracranial hypertension associated with abducens nerve palsies secondary to CVST and was initiated on anticoagulant therapy. CVST can lead to stroke even in younger individuals.

Conclusion

CVST should be considered in differential diagnosis when bilateral papilledema and abducens nerve palsies are present, even in the absence of headache or other neurological findings.

SUBMITTER: Nakata D

PROVIDER: S-EPMC11249734 | biostudies-literature | 2024 Jan-Dec

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Cerebral Venous Sinus Thrombosis with Bilateral Optic Disc Swelling and Bilateral Sixth Nerve Palsies in the Absence of Headache: A Case Report.

Nakata Daisuke D Okada Hiroshi H Ueoka Koji K Shimada Yoshiaki Y Tanikawa Atsuhiro A Horiguchi Masayuki M Ito Yasuki Y

Case reports in ophthalmology 20240101 1

<h4>Introduction</h4>We report a case of cerebral venous sinus thrombosis (CVST) that presented with bilateral optic disc swelling and diplopia in the absence of headaches.<h4>Case presentation</h4>A 54-year-old woman with no relevant medical history presented with a 2-week history of diplopia and no loss of visual acuity in each eye. Eye movements revealed bilateral abduction deficits, and fundoscopic examination revealed bilateral optic disc swelling. Non-contrast computed tomography of the he ...[more]

PMID: 39015232

Similar Datasets

Project description:PURPOSE: To investigate the genetic basis of recessively-inherited congenital, non syndromic, bilateral, total sclerocornea in two consanguineous pedigrees, one from the Punjab province of Pakistan and the other from the Tlaxcala province of Mexico. METHODS: Ophthalmic examinations were conducted on each family member to confirm their diagnosis and magnetic resonance imaging (MRI) or ultrasonography of the eyes was performed on some family members. Genomic DNA was analyzed by homozygosity mapping using the Affymetrix 6.0 SNP array and linkage was confirmed with polymorphic microsatellite markers. Candidate genes were sequenced. RESULTS: A diagnosis of autosomal recessive sclerocornea was established for 7 members of the Pakistani and 8 members of the Mexican pedigrees. In the Pakistani family we established linkage to a region on chromosome 1p that contained Forkhead Box E3 (FOXE3), a strong candidate gene since FOXE3 mutations had previously been associated with various anterior segment abnormalities. Sequencing FOXE3 identified the previously reported nonsense mutation, c.720C>A, p.C240X, in the Pakistani pedigree and a novel missense mutation which disrupts an evolutionarily conserved residue in the forkhead domain, c.292T>C, p.Y98H, in the Mexican pedigree. Individuals with heterozygous mutations had no ocular abnormalities. MRI or ultrasonography confirmed that the patients with sclerocornea were also aphakic, had microphthalmia and some had optic disc coloboma. CONCLUSIONS: This is the fourth report detailing homozygous FOXE3 mutations causing anterior segment abnormalities in human patients. Previous papers have emphasized aphakia and microphthalmia as the primary phenotype, but we find that the initial diagnosis - and perhaps the only one possible in a rural setting - is one of non-syndromic, bilateral, total sclerocornea. Dominantly inherited anterior segment defects have also been noted in association with heterozygous FOXE3 mutations. However the absence of any abnormalities in the FOXE3 heterozygotes described suggests that genetic background and environmental factors plays a role in the penetrance of the mutant allele.

Project description:BackgroundCohen syndrome (Q87.8;ORPHA:193; OMIM#216550) is an autosomal recessive inherited genetic disorder caused by mutation in the VPS13B/COH1 gene. It is characterized by variable clinical symptoms such as deformity of the head, face, hands and feet, eye abnormalities, abdominal obesity, neutropenia and nonprogressive intellectual disability. The typical lesions in the eyeball in Cohen syndrome include high myopia, retinal dystrophy, strabismus, maculopathy and lens subluxation. The present study describes the coexistence of bilateral macular edema with pale optic disc in a patient with a homozygous deletion in the VPS13B/COH1 gene.Material and methodsA 6-year-old Caucasian girl with facial dysmorphism, microcephaly, prominent upper incisors, narrow hands with slender fingers, congenital heart defect and ophthalmic symptoms was subjected to genetic testing. The genetic evaluation revealed a homozygous deletion on the long arm of chromosome 8 encompassing 20-25 exons of the VPS13 gene, as confirmed by Cohen syndrome. She underwent a full ophthalmological examination with the assessment of slit lamp examination of anterior segment and fundoscopy, refraction error, biometry, central corneal thickness and additionally electroretinography, optical coherence tomography and fundus photography.ResultsIn the ophthalmologic examination, the girl had bilateral astigmatism accompanied by myopia and a marked reduction in central corneal thickness. Fundus examination showed pale optic nerve discs and "salt and pepper" retinopathy. Bilateral cystic macular edema was revealed in handheld optical coherence tomography. Electroretinography showed a reduced response amplitude of cones and rods.ConclusionIn a patient with high myopia, macular edema, pale optic disc and facial dysmorphism, Cohen syndrome should be considered in the differential diagnosis. The severity of individual clinical features in patients with Cohen syndrome varies. It can be assumed that the type of mutation affects the occurrence and severity of individual symptoms.

Dataset Information

Cerebral Venous Sinus Thrombosis with Bilateral Optic Disc Swelling and Bilateral Sixth Nerve Palsies in the Absence of Headache: A Case Report.

Introduction

Case presentation

Conclusion

Publications

Cerebral Venous Sinus Thrombosis with Bilateral Optic Disc Swelling and Bilateral Sixth Nerve Palsies in the Absence of Headache: A Case Report.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure

Tweets