Progressive multifocal leukoencephalopathy in a patient with occult hypogammaglobulinemia experiencing bilateral visual impairment

2021 ◽  
pp. 112067212199053
Author(s):  
Sameera Hettipathirannahelage ◽  
Sidath Wijetilleka ◽  
Hugh Jewsbury
Keyword(s):  
Progressive Multifocal Leukoencephalopathy ◽  
Visual Impairment ◽  
Demyelinating Disease ◽  
Parietal Lobe ◽  
Previous History ◽  
White Matter Lesions ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
History Of ◽  
Ishihara Test

Introduction: Progressive multifocal leukoencephalopathy (PML) is a rare, lethal, demyelinating disease classically seen in profoundly immunosuppressed individuals. It is caused by intracerebral infection by John Cunningham polyomavirus (JCV). We report a rare case of PML in a man with presumed immunocompetence at presentation experiencing bilateral painless visual impairment. Case Description: A 60-year-old man with a 3-week history of bilateral painless visual impairment attended our ophthalmology department. Unusually, he navigated around the room well and was able to read 4 of 13 Ishihara test plates in spite of a best-corrected visual acuity of counting fingers at 1 m bilaterally. Slit lamp examination, routine blood tests and optical coherence tomography (OCT) of the maculae and discs were unremarkable. Diffuse hyperintense white matter lesions on T2-weighted magnetic resonance imaging of the brain and detection of JCV within the parietal lobe tissue obtained by biopsy confirmed PML. Additional investigations identified an underlying hypogammaglobulinaemia, which may have initiated PML. He received intravenous immunoglobulin but passed away 2 months after diagnosis. Conclusions: To our knowledge this case is one of only a handful worldwide to describe PML developing in a patient with presumed immunocompetence at presentation – there was no previous history of recurrent, chronic, or atypical infections. There has only been one other report of visual symptoms presenting as the primary complaint. The case illustrates the importance of ruling out organic, central nervous system pathology in patients presenting with visual loss and normal objective visual function tests such as slit lamp examination and OCT.

scholarly journals Identification of a Novel Missense KRT12 Mutation in a Vietnamese Family with Meesmann Corneal Dystrophy

2020 ◽  
Vol 11 (1) ◽  
pp. 120-126
Author(s):  
Pham Ngoc Dong ◽  
Le Xuan Cung ◽  
Tran Khanh Sam ◽  
Do Thi Thuy Hang ◽  
Doug D. Chung ◽  
...  
Keyword(s):  
Sanger Sequencing ◽  
Novel Mutation ◽  
Family Members ◽  
Corneal Dystrophy ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Corneal Epithelial ◽  
Epithelial Phenotype ◽  
History Of ◽  
Characteristic Features

Meesmann epithelial corneal dystrophy (MECD) is a rare dominantly inherited disorder that is characterized by corneal epithelial microcysts and is associated with mutations in the keratin 3 (KRT3) and keratin 12 (KRT12) genes. In this study, we report a novel mutation in the KRT12 gene in a Vietnamese pedigree with MECD. Slit-lamp examination was performed on each of the 7 recruited members of a Vietnamese family to identify characteristic features of MECD. After informed consent was obtained from each individual, genomic DNA was isolated from saliva samples and screening of KRT3and KRT12 genes was performed by Sanger sequencing. The proband, a 31-year-old man, complained of a 1-year history of eye irritation and photophobia. Slit-lamp examination revealed intraepithelial microcysts involving only the corneal periphery in each eye with clear central corneas and no stromal or endothelial involvement. Three family members demonstrated similar intraepithelial microcysts, but with diffuse involvement, extended from limbus to limbus. Sanger sequencing of KRT3 (exon 7) and KRT12 (exons 1 and 6) in the proband revealed a novel heterozygous KRT12 variant (c.1273G>A [p.Glu425Lys]) that was present in the three affected family members but was absent in the three family members with clear corneas. This study is the first report of a Vietnamese family affected with MECD, associated with an atypical peripheral corneal epithelial phenotype in the proband and a novel mutation in KRT12.

scholarly journals Superior Oblique Myokymia Presumed Due to Large Posterior Fossa Arteriovenous Malformation

2020 ◽  
Vol 47 (6) ◽  
pp. 824-825
Author(s):  
Laura Donaldson ◽  
Brian van Adel ◽  
Amadeo R. Rodriguez
Keyword(s):  
High Frequency ◽  
Previous History ◽  
Ocular Motility ◽  
Slit Lamp ◽  
Primary Position ◽  
The Past ◽  
History Of ◽  
Supplementary Material ◽  
The Brain ◽  
Superior Oblique

A 26-year-old female presented with a complaint of intermittent oscillopsia and binocular vertical diplopia for the past 5 years. Over the past several months, she had noticed intermittent pulsatile tinnitus. She was otherwise healthy with no previous history of trauma and had no other visual or neurologic complaints. In Neuro-ophthalmology clinic, she was found to have 20/15 vision in both eyes with full ocular motility. There was a small exophoria in primary position and small esophoria in downgaze. Her slit lamp and fundus examinations were normal. During the assessment, the left eye was noted to undergo high-frequency, small amplitude incyclotorsional oscillations for a few seconds at a time (Video 1 in the supplementary material), which she was able to provoke by looking down. The diagnosis of superior oblique myokymia was made, and an MRI/MRA of the brain was requested.

Ellipsoid layer restoration after Ozurdex® treatment in a patient with acute posterior multifocal placoid pigment epitheliopathy

2019 ◽  
pp. 112067211988359 ◽  
Author(s):  
Arnau Mora-Cantallops ◽  
M Dolores Pérez ◽  
Marcelino Revenga ◽  
Julio Jose González-López
Keyword(s):  
Optical Coherence Tomography ◽  
Visual Acuity ◽  
Optical Coherence ◽  
Dexamethasone Implant ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Intravitreal Dexamethasone Implant ◽  
History Of ◽  
Intravitreal Dexamethasone ◽  
Consequent Improvement

An atypical case of acute posterior multifocal placoid pigment epitheliopathy with a clear reappearance of the ellipsoid layer of the retina after Ozurdex® intravitreal implantation is presented. A 51-year-old woman reported a 3-week history of left eye photopsia. On slit-lamp examination, yellowish placoid lesions were found on her left eye fundus. Ancillary tests were performed. The patient was diagnosed as a left eye acute posterior multifocal placoid pigment epitheliopathy, and observational approach was decided. Later, the condition started to progress in an ampiginous manner and a decrease of visual acuity caused by an increase in number and size of the lesions was observed. As the disease was progressing with the conservative, observational approach, and the macula was menaced, an intravitreal dexamethasone implant was injected in the left eye with a consequent improvement of the visual acuity and lesion stabilization. The ellipsoid layer, unidentifiable inside the placoid lesions in previous optical coherence tomography tests, reappeared after the treatment. Intravitreal dexamethasone implants can be used to stabilize acute posterior multifocal placoid pigment epitheliopathy lesions and help resolve the condition. Spectral domain optical coherence tomography can also be useful for monitoring these lesions, as the ellipsoid layer may reappear upon resolution.

scholarly journals Open-Ring Enhancement in Pseudotumoral Multiple Sclerosis: Important Radiological Aspect

2014 ◽  
Vol 2014 ◽  
pp. 1-5
Author(s):  
Frederico Carvalho de Medeiros ◽  
Lucas Alverne Freitas de Albuquerque ◽  
Jose Eymard Homem Pittella ◽  
Renata Brant de Souza ◽  
Antonio Pereira Gomes Neto ◽  
...  
Keyword(s):  
Multiple Sclerosis ◽  
Stereotactic Biopsy ◽  
Demyelinating Disease ◽  
Histopathological Examination ◽  
Previous History ◽  
Open Ring ◽  
Cranial Mri ◽  
History Of ◽  
Radiological Aspect ◽  
Magnetic Resonance Imaging Mri

Introduction. Observation of open-ring enhancement in magnetic resonance imaging (MRI) is considered a specificity marker for diagnosing pseudotumoral multiple sclerosis (MS). This finding is of great value in the differential diagnosis of tumefactive lesions.Case Report. We describe a 55-year-old white woman, with previous history of ovarian cancer and recent history of fatigue and bilateral retroorbital pain. Important bilateral visual impairment evolved over one month. Physical examination detected the presence of right homonymous hemianopia. Cranial MRI showed an expanding lesion with open-ring enhancement. Given the range of diagnostic possibilities, a stereotactic biopsy was performed, and histopathological examination was consistent with an active demyelinating disease. The patient was treated with 1 g of methylprednisolone and symptoms improved following a significant reduction in the lesion.Conclusions. We highlight the MRI results suggestive of pseudotumoral MS, especially open-ring enhancement, which is an important radiologic aspect to diagnosis and can assist in avoiding unnecessary biopsies.

scholarly journals Progressive Multifocal Leukoencephalopathy in a HIV Negative, Immunocompetent Patient

2016 ◽  
Vol 2016 ◽  
pp. 1-4 ◽  
Author(s):  
T. Nanda
Keyword(s):  
Viral Load ◽  
Progressive Multifocal Leukoencephalopathy ◽  
Poor Prognosis ◽  
Demyelinating Disease ◽  
Brain Biopsy ◽  
Immunocompetent Patient ◽  
Left Temporal Lobe ◽  
Word Finding ◽  
History Of ◽  
Hiv Negative

Progressive multifocal leukoencephalopathy (PML) is a rare demyelinating disease most common in immunodeficient patients. It occurs due to reactivation of the John Cunningham Virus (JCV) and carries a poor prognosis, with a median life expectancy of 6 months. We report a case of a 66-year-old man with a history of HCV related cirrhosis (HCV) and hepatocellular carcinoma (HCC) who was found to have PML in the setting of a negative viral load in the CSF and a CD4+ >200. He initially presented with two weeks of mild confusion and word-finding difficulty concerning for hepatic encephalopathy. An MRI was notable for extensive T2/FLAIR hyperintensity signal in the left temporal lobe. Brain biopsy was positive for JCV. PML is rare in immunocompetent individuals, especially in the setting of a negative viral load. It is possible, however, that transient states of immunosuppression may have been responsible in this case. Although viral load was reported as negative, virus may still have been detected but was below the quantifiable threshold. It is important for clinicians to note that a negative result does not necessarily exclude the possibility of PML, and care should be taken to review lab values on viral load in closer detail.

scholarly journals External ophthalmomyiasis by sheep botfly – a report from Sirmaur hills

2020 ◽  
Vol 18 (1) ◽  
pp. 64-66
Author(s):  
Anubhav Chauhan ◽  
◽  
Neha Gautam ◽  
Keyword(s):  
Foreign Body ◽  
Oestrus Ovis ◽  
Human Tissues ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Topical Antibiotics ◽  
Body Sensation ◽  
History Of ◽  
Conjunctival Inflammation ◽  
The Right

Introduction. Myiasis is caused by larvae of flies infesting animal or human tissues and organs. Aim. In this report we present 2 cases of external ophthalmomyiasis by sheep botfly. Description of the cases. We report a case of two patients who presented with a history of foreign body sensation in the left and the right eye respectively. Slit lamp examination revealed larvae of Oestrus ovis (sheep botfly). In both cases, there was no contact history with sheep or goats. Signs of conjunctival inflammation and corneal involvement were absent in both cases. In most of the previous reports, corneal and conjunctival inflammation was present. Conclusion. Treatment for external ophthalmomyiasis is based on larvae removal and application of topical antibiotics and steroids.

scholarly journals Progressive Multifocal Leukoencephalopathy (PML) – a Case Report.

Pulse ◽  
2014 ◽  
Vol 6 (1-2) ◽  
pp. 57-59
Author(s):  
BS Khan ◽  
J Alam
Keyword(s):  
Immune Deficiency ◽  
Central Nervous System ◽  
Progressive Multifocal Leukoencephalopathy ◽  
Demyelinating Disease ◽  
Clinical Status ◽  
White Matter Lesions ◽  
Mass Effect ◽  
Viral Disease ◽  
Review Of Literature ◽  
The Central Nervous System

Progressive Multifocal Leukoencephalopathy (PML) is a rare and usually fatal viral disease occurring almost exclusively in people with severe immune deficiency. This is a demyelinating disease of the central nervous system (CNS) that usually leads to death or severe disability. Patients usually present with focal CNS abnormalities like; hemiparesis, apathy, and confusion. Multifocal white matter lesions without mass effect lead to the diagnosis of PML. In this article we present a review of literature and report of a case of PML in which the patient’s clinical status and MR findings are typical. DOI: http://dx.doi.org/10.3329/pulse.v6i1-2.20355 Pulse Vol.6 January-December 2013 p.57-59

Vascular White Matter Lesions in Young Adults: A Neurology Outpatient Clinic Registry

2019 ◽  
Vol 82 (1-3) ◽  
pp. 23-31
Author(s):  
Miguel Viana-Baptista ◽  
Vera Cruz-e-Silva ◽  
André Caetano ◽  
João Pedro Marto ◽  
Elsa Azevedo ◽  
...  
Keyword(s):  
Risk Factors ◽  
Young Adults ◽  
White Matter ◽  
Genetic Disorder ◽  
Previous History ◽  
White Matter Lesions ◽  
Vascular Risk Factors ◽  
Outpatient Clinics ◽  
Vascular Risk ◽  
History Of

Introduction: Although frequently assumed to be age-related changes, vascular white matter lesions (WML) are sometimes found in young adults. Etiology is usually attributed to sporadic small vessel disease; nevertheless, genetic disorders may also be implicated. We aimed to characterize the population of young adults with vascular WML in Neurology outpatient clinics. Methods: Neurologists from 12 Portuguese hospitals were invited to include patients aged 18–55 years evaluated in consultation, with vascular WML on MRI, scoring II or III in the Fazekas scale. Central imaging validation was performed by 2 independent, blinded, Neuroradiologists. Demographic and clinical data were collected as well as results of investigations performed. Results: During 2 years, 77 patients were included (mean age 47.7 years). Vascular risk factors were present in 88.3% patients (hypertension in 53.2%) and previous history of stroke in 36.4%. Patients without history of stroke were younger (46.6 ± 7.2 vs. 49.6 ± 3.9 years, p = 0.045) and had fewer vascular risk factors (p < 0.001). They were more frequently females (87.8 vs. 46.4%, p < 0.001), and headache (30.6 vs. 3.6%, p = 0.007), contrary to focal symptoms (16.3 vs. 53.6%, p = 0.001), was the most frequent reason of referral. Etiological investigations performed differed between Neurologists. A genetic disorder was identified in 6 out of 58 patients (CADASIL n = 5; COL4A1 n = 1). Conclusion: Young adults with vascular WML evaluated in Neurology outpatient clinics concentrate in the oldest age groups. Vascular risk factors should be screened carefully in this population. Among patients without history of stroke, females largely outweigh males. Diagnostic investigations performed do not follow a standardized protocol.

Graphite Particle in Cornea- An Incidental Finding

2021 ◽  
Author(s):  
Iva Rani Kalita
Keyword(s):  
Graphite Particle ◽  
Incidental Finding ◽  
Anterior Segment ◽  
Slit Lamp ◽  
Slit Lamp Examination ◽  
Active Intervention ◽  
The Past ◽  
Entry Wound ◽  
History Of ◽  
Temporal Quadrant

An eleven years old female came to Ophthalmology OPD for normal checkup. Her vision was 6/6 in BE's. On Slit Lamp Examination of Anterior Segment, LE Cornea showed crystalline greyish deposits scattered in infero-temporal quadrant mostly suggestive of Pencil Graphite. The rest details were absolutely normal. No entry wound could be made out. The patient and her parents gave no History of any pencil trauma in the past even after. As the particles were inert and patient had no symptom, no active intervention was done (Figures 1 and 2).

CLINICAL PROFILE OF PAEDIATRIC PATIENTS OF VERNAL KERATOCONJUNCTIVITIS PRESENTING TO THE TERTIARY HEALTH CARE CENTRE

2021 ◽  
pp. 4-6
Author(s):  
Jitendra Kumar ◽  
Rashmi Kumari ◽  
Apoorva Jain
Keyword(s):  
Health Care ◽  
Prospective Observational Study ◽  
Dust Exposure ◽  
Vernal Keratoconjunctivitis ◽  
Age Group ◽  
Slit Lamp ◽  
Care Centre ◽  
Health Care Centre ◽  
Slit Lamp Examination ◽  
History Of

PURPOSE - to study the clinical prole of patients of vernal keratoconjunctivitis presenting to the tertiary health care centre. METHODS- This was a prospective observational study that involved 100 eyes of 50 patients with vernal keratoconjunctivitis complaining of itching, burning and ropy discharge. Slit lamp examination was done in all the patients. RESULTS-There were 37 males and 13 females and the age group taken was 1 to 15 years. 4 patients belonged to the age group of 1 to 5 years, out of which all 4 were males. 32 patients belonged to age group of 6 to 11 years, out of which 24 were males and 8 were females. 14 patients belonged to the age group of 12 to 15 years, out of which 9 were males and 5 were females. On slit lamp examination cobblestone papillae were seen in 46% patients, pseudogerontoxon was seen in 32% patients, Horner Tranta's spots were seen in 18% patients and shield ulcer was seen in 4% patients. CONCLUSION-VKC is a common form of allergic conjunctivitis and the disease tends to occur in males of 6 to 11 years age group. Most common is palpebral form followed by mixed and bulbar forms. Some cases showed history of dust exposure, atopy and other allergic conditions.

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