A case of Fabry disease with central nervous system (CNS) demyelinating lesions: a double trouble?

2008 ◽  
Vol 14 (7) ◽  
pp. 1003-1006 ◽  
Author(s):  
P Invernizzi ◽  
MA Bonometti ◽  
E Turri ◽  
MD Benedetti ◽  
A Salviati
Keyword(s):  
Fabry Disease ◽  
Laboratory Tests ◽  
Demyelinating Disease ◽  
Oligoclonal Bands ◽  
Pathological Features ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Demyelinating Lesions ◽  
Leg Weakness

We present the case of a 36-year-old woman affected with Fabry disease (FD), with neuroradiologic and laboratory tests suggestive of a coexistent inflammatory demyelinating disease. Since the age of 23, she presented recurrent neurologic deficits, such as right limb paresthesias, diplopia, and right leg weakness. Magnetic resonance imaging revealed multiple demyelinating lesions in periventricular areas, corpus callosum, and spinal cord. Cerebrospinal fluid analysis showed the presence of oligoclonal bands, while visual-evoked potentials were delayed with preserved morphology. FD is usually considered as a differential diagnosis of multiple sclerosis, but we think that the best explanation of all pathological features in this case is the coexistence of the two diseases.

Fluctuating Vision Loss, Seizures, and Left Parieto-Occipital Mass

2021 ◽  
pp. 22-25
Author(s):  
Alicja Kalinowska-Lyszczarz ◽  
W. Oliver Tobin ◽  
Yong Guo ◽  
Claudia F. Lucchinetti
Keyword(s):  
Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Demyelinating Disease ◽  
Disease Onset ◽  
Brain Magnetic Resonance Imaging ◽  
Resonance Imaging ◽  
Intravenous Methylprednisolone ◽  
Fluid Analysis ◽  
Demyelinating Lesions

A 35-year-old man sought care for progressive visual disturbance. Magnetic resonance imaging of the brain showed a large, left-sided, parieto-occipital, contrast-enhancing lesion. He was treated with dexamethasone with brief improvement in vision. Within 5 days he had progressive vision worsening. Two weeks after the onset of his symptoms, brain magnetic resonance imaging showed a decrease in lesion size, and corticosteroids were discontinued. Two months after symptom onset he was found to have alexia without agraphia, and follow-up magnetic resonance imaging showed an increased size of the lesion. Two months after disease onset, the patient underwent a left occipital brain biopsy, which demonstrated a macrophage-enriched active demyelinating lesion with relative axonal sparing. Right arm weakness and aphasia developed, along with a fever. He was treated with dexamethasone. Electroencephalography indicated multiple seizures. Repeated cerebrospinal fluid analysis showed a slightly increased white blood cell count, increased protein level, immunoglobulin G index of 0.84, and the presence of 3 cerebrospinal fluid-unique oligoclonal bands. He was treated with 5 days of intravenous methylprednisolone and levetiracetam, with improvement. Three and a half years later, the patient came to the emergency department with weakness of the left leg associated with reduced sensation. Spinal magnetic resonance imaging showed a new demyelinating contrast-enhancing lesion from T2 to T7. He was treated with 5 days of intravenous methylprednisolone followed by 6 sessions of plasma exchange, with improvement. A diagnosis of relapsing tumefactive demyelination was made. The patient was subsequently treated with ocrelizumab. Tumefactive demyelinating lesions pose a diagnostic challenge, especially if they are the first manifestations of demyelinating disease. Typically, tumefactive demyelinating lesions are large (>2 cm) and are associated with edema, mass effect, and variable patterns of contrast enhancement.

scholarly journals Balo’s Concentric Sclerosis Mimicking Tumor on Magnetic Resonance Imaging in a Young Patient

2021 ◽  
Vol 14 ◽  
pp. 117954762198967
Author(s):  
Van Trung Hoang ◽  
Cong Thao Trinh ◽  
Hoang Anh Thi Van ◽  
Thanh Tam Thi Nguyen ◽  
Vichit Chansomphou ◽  
...  
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Demyelinating Disease ◽  
Management Strategies ◽  
Resonance Imaging ◽  
Mri Findings ◽  
Demyelinating Lesions ◽  
Baló’S Concentric Sclerosis ◽  
Magnetic Resonance Imaging Mri ◽  
Subcortical Regions

Balo’s concentric sclerosis (BCS) is a rare demyelinating disease known as Multiple Sclerosis (MS) lesion type III. It is a disease of the white matter of the brain characterized by a round lesion with variable concentric myelinated and demyelinated layers, appearing as “onion bulb.” We present a case of BCS and discuss the imaging findings and management strategies of this disease. A 26-y-old male developed headache, weakness, and numbness of limbs. Magnetic resonance imaging (MRI) showed concentric lamellar like demyelinating lesions at the subcortical regions. The patient’s neurological symptoms were consistent with the MRI findings.

Progressive Spasticity With a Single Magnetic Resonance Imaging Lesion

2021 ◽  
pp. 20-21
Author(s):  
Samantha A. Banks ◽  
Eoin P. Flanagan
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Magnetic Resonance ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Fluid Analysis ◽  
Skin Cancers ◽  
Clinical Episode ◽  
History Of ◽  
The Right

A 59-year-old White man with a history of excised basal and squamous cell skin cancers was evaluated for gait difficulties. He had erectile dysfunction but no bowel or bladder dysfunction. He also reported fatigue. He began using a cane for ambulation 2 weeks before evaluation at our facility. His medications included vitamin D and sildenafil. He was a lifelong nonsmoker and had no family history of multiple sclerosis. Neurologic examination at the time of our evaluation 3 years after onset was notable for a positive Hoffman sign on the right and mild weakness of the right triceps but preserved strength elsewhere. He had a spastic gait with moderate spasticity in both lower extremities, hyperreflexic patellar and ankle jerks bilaterally, and bilateral positive Babinski sign. The remainder of the examination was essentially normal. Magnetic resonance imaging of the brain showed a single lesion at the cervicomedullary junction and medullary pyramids, more prominent on the right. There was also some accompanying atrophy that was also visible on cervical spine magnetic resonance imaging. Results of cerebrospinal fluid analysis showed a normal white blood cell count, increased protein concentration (108 mg/dL), and positive oligoclonal bands. The progressive nature of his symptoms, spinal fluid results, and lesion appearance were all consistent with a diagnosis of progressive solitary sclerosis. At the time this patient was seen, no immunomodulatory medications for progressive solitary sclerosis were approved, so no immunomodulatory medication was tried. Ongoing symptomatic management was recommended. Progressive solitary sclerosis is a rare variant of multiple sclerosis in which patients have a single central nervous system demyelinating lesion and development of motor progression attributable to that lesion. Patients can initially have a clinical episode followed by progression or can have a progressive course without an initial relapse.

scholarly journals Dengue encephalopathy – still an enigma?

2014 ◽  
Vol 8 (08) ◽  
pp. 1076-1078 ◽  
Author(s):  
Rupali Malik ◽  
Arun Gogna ◽  
Jhasketan Meher ◽  
Kumud Kumar Singh ◽  
Susheel Kumar Sharma
Keyword(s):  
Infectious Agent ◽  
Hemorrhagic Fever ◽  
Neurological Involvement ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Cranial Magnetic Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Rim Enhancement ◽  
Extensive Involvement

Dengue encephalopathy or dengue hemorrhagic fever (DHF) with neurological involvement was once considered to be one of the rarer presentations of this infectious agent. In recent years, many such clinical cases have been reported, though they still remain isolated. We hereby report a case of confirmed dengue fever with features of encephalopathy with previously unreported cranial magnetic resonance imaging findings suggestive of extensive involvement of the bilateral cerebellar region, brainstem, and thalami along with peculiar rim enhancement but normal cerebrospinal fluid analysis.

scholarly journals Ocular flutter as presenting manifestation of pediatric MOG antibody–associated demyelination: A case report

2018 ◽  
Vol 25 (1) ◽  
pp. 122-125 ◽  
Author(s):  
Marianthi Breza ◽  
Nikoletta Smyrni ◽  
Georgios Koutsis ◽  
Evangelos Anagnostou ◽  
John Tzartos ◽  
...  
Keyword(s):  
Brain Mri ◽  
Brain Magnetic Resonance Imaging ◽  
Oligoclonal Bands ◽  
Resonance Imaging ◽  
Ocular Flutter ◽  
Demyelinating Lesions ◽  
History Of ◽  
Mog Antibodies ◽  
Magnetic Resonance Imaging Mri ◽  
Csf Oligoclonal Bands

A 13-year-old girl presented with a 5-day history of oscillopsia. On examination, ocular flutter and mild cerebellar signs were found. Brain magnetic resonance imaging (MRI) revealed four periventricular and subcortical non-enhancing lesions. Cerebrospinal fluid (CSF) oligoclonal bands were negative. Neuroblastoma or other malignancies were not found. She responded well to a corticosteroid–intravenous immunoglobulin (IVIG) combination and remained symptom-free for 3 years until presenting again with isolated ocular flutter. Brain MRI at this time remained atypical for classic multiple sclerosis (MS) with a predominance of juxtacortical demyelinating lesions. CSF was positive for oligoclonal bands. Serum myelin oligodendrocyte glycoprotein (MOG) antibodies were present. Ocular flutter can be the presenting feature of MOG antibody–associated pediatric demyelination.

scholarly journals Primary leptomeningeal melanocytosis: A case report with an autopsy diagnosis

2012 ◽  
Vol 69 (7) ◽  
pp. 631-634 ◽  
Author(s):  
Nikola Zivkovic ◽  
Dragan Mihailovic ◽  
Zaklina Mijovic ◽  
Maja Jovicic-Milentijevic
Keyword(s):  
Case Report ◽  
Skin Lesions ◽  
Histopathological Analysis ◽  
Rare Tumor ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Fluid Analysis ◽  
Average Survival ◽  
Autopsy Diagnosis ◽  
Pigmented Skin Lesions

Introduction. Primary melanocytosis of the leptomeninges is a rare tumor, most likely originating from the melanocytes in the leptomeninges. The average survival is only about 5 months. Case report. A 61- years-old woman presented with headache, amaurosis and hallucinations lasted for two months, and she had been treated at the Clinic for Psychiatry and Clinic for Infectious Diseases. The cerebrospinal fluid analysis showed a lower level of glucose and a higher level of proteins. Small shaded areas of basal leptomeninges and hydrocephalus were found by computed tomography and magnetic resonance imaging. The autopsy showed a dark brown mass on basal leptomeninges with blurred boundaries. No pigmented skin lesions were found. Histopathological analysis revealed a primary leptomeningeal melanocytosis. Conclusion. Primary leptomeningeal melanocytosis is a rare tumor, difficult to diagnose. This case is being presented for its specificity, since this diagnosis is not frequently seen in practice.

An unusual presentation of multiple sclerosis

1994 ◽  
Vol 24 (2) ◽  
pp. 525-529 ◽  
Author(s):  
M. H. Hotopf ◽  
S. Pollock ◽  
W. A. Lishman
Keyword(s):  
Magnetic Resonance Imaging ◽  
Multiple Sclerosis ◽  
Cerebrospinal Fluid ◽  
Magnetic Resonance ◽  
Resonance Imaging ◽  
Cerebrospinal Fluid Analysis ◽  
Rare Presentation ◽  
Fluid Analysis ◽  
Electrophysiological Tests ◽  
Male Patients

SynopsisTwo male patients who presented with unusual pictures of dementia in the absence of other obvious symptoms or signs are reported. Investigations demonstrated changes highly suggestive of multiple sclerosis (MS) on magnetic resonance imaging, cerebrospinal fluid analysis and electrophysiological tests. We suggest this represents a rare presentation of multiple sclerosis.

Sign in / Sign up

Export Citation Format

Share Document