Clinical Presentation, Imaging Features, and Management of Müller–Weiss Disease

Protein misfolding has been an area of intense research and is implicated in a number of neurodegenerative diseases. Key proteins in the brain lose their native ability to fold and instead assume abnormal conformations. Misfolded proteins cluster to form pathologic aggregates, which cause cellular dysfunction, neuronal death, and neurodegeneration. The prionopathies are best known among the neurodegenerative diseases for their ability to misfold, self-propagate, and infect other organisms. There is increasing evidence of a rationale for a prionlike mechanism of spread of other neurodegenerative diseases through a similar seeding mechanism. In this review, we detail the role of a key protein aberration known to the various prion diseases, including sporadic, variant, and iatrogenic Creutzfeldt-Jakob disease; variably protease-sensitive prionopathy; Gerstmann-Straussler-Scheinker disease; fatal familial insomnia; and kuru. We also discuss the clinical presentation, the available, and emerging imaging options for these diseases. In the second part of this review, we delineate how a prionlike seeding process may be driving the progression of other neurodegenerative diseases, including Parkinson disease, Alzheimer disease, and Huntington disease. A discussion of clinical presentation and imaging features of these example diseases follows to make a case for a common approach to developing imaging biomarkers and therapies of these diseases.Learning Objective: Upon completion of this article, one should be able to describe the various types of prion diseases, recognize and identify the common the neuro-imaging findings in prion diseases, describe seeding mechanism of prion disease, list the common amyloid PET tracers used for Alzheimer’s disease, and list common imaging biomarkers in neurodegenerative diseases.

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Clinical and Imaging Features of a Congenital Midline Cervical Cleft in a Neonate: A Rare Anomaly

Case Reports in Pediatrics ◽

10.1155/2015/439596 ◽

2015 ◽

Vol 2015 ◽

pp. 1-3 ◽

Cited By ~ 1

Author(s):

Rachelle Goldfisher ◽

Pritish Bawa ◽

Zachary Ibrahim ◽

John Amodio

Keyword(s):

Congenital Anomaly ◽

Pediatric Surgery ◽

Clinical Presentation ◽

Imaging Features ◽

Rare Congenital Anomaly ◽

Rare Anomaly ◽

Work Up ◽

Midline Cervical Cleft

Congenital midline cervical cleft (CMCC) is a rare congenital anomaly. CMCC and its complications and treatment have been well described in ENT, dermatology, and pediatric surgery literature. However, to our knowledge, the imaging work-up has not been reported in the literature thus far. We present a case of CMCC in a neonate with description of clinical presentation and imaging features.

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Accessory Soleus Muscle

Journal of the American Podiatric Medical Association ◽

10.7547/0940587 ◽

2004 ◽

Vol 94 (6) ◽

pp. 587-589 ◽

Cited By ~ 10

Author(s):

Tuba Karagülle Kendi ◽

Aziz Erakar ◽

Olcay Oktay ◽

H. Yusuf Yildiz ◽

Yener Saglik

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Soft Tissue ◽

Soleus Muscle ◽

Clinical Presentation ◽

Imaging Features ◽

Resonance Imaging ◽

Tissue Mass ◽

Anatomical Variant ◽

Muscle Magnetic Resonance Imaging

Accessory soleus muscle is an uncommon anatomical variant that may present as a soft-tissue mass in the posteromedial region of the ankle. It is congenital in origin but usually presents in the second or third decade of life. Although it is a rare entity, accessory soleus muscle should be included in the differential diagnosis of soft-tissue swelling of the ankle. Awareness of the clinical presentation and specific findings of computed tomography, magnetic resonance imaging, and electromyography help with diagnosis without surgical exploration. We describe a 30-year-old patient with accessory soleus muscle. Magnetic resonance imaging features of the case are described, and the literature is briefly reviewed. (J Am Podiatr Med Assoc 94(6): 587–589, 2004)

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Non-traumatic Tension Gastrothorax: A Potential Mimicker of Tension Pneumothorax

Journal of Radiology Case Reports ◽

10.3941/jrcr.v15i8.4144 ◽

2021 ◽

Vol 15 (8) ◽

pp. 1-7

Author(s):

Jonathan D. Pierce ◽

Neal R. Shah ◽

Ata A. Rahnemai-Azar ◽

Amit Gupta

Keyword(s):

Clinical Presentation ◽

Tension Pneumothorax ◽

Accurate Diagnosis ◽

Imaging Features ◽

Elderly Female ◽

Hemodynamic Compromise ◽

Mediastinal Shift ◽

Increased Risk ◽

Life Threatening ◽

Tension Gastrothorax

Tension gastrothorax is a rare, life-threatening clinical condition caused by intrathoracic herniation of the stomach through a diaphragmatic defect which becomes increasingly distended over time. If not recognized promptly, this can rapidly progress to respiratory distress, mediastinal shift, and hemodynamic compromise. Initial clinical presentation and imaging findings closely mirror those of tension pneumothorax, confounding diagnosis and potentially leading to unnecessary interventions with increased risk of morbidity and mortality. Here, we present a case of an elderly female who presented with a non-traumatic tension gastrothorax and a review of key imaging features and strategies to aid in recognition and accurate diagnosis of this emergent clinical entity.

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Glial Fibrillary Acidic Protein Autoimmunity: A French Cohort Study

Neurology ◽

10.1212/wnl.0000000000013087 ◽

2021 ◽

pp. 10.1212/WNL.0000000000013087

Author(s):

Alice Gravier Dumonceau ◽

Roxana Ameli ◽

Veronique Rogemond ◽

Anne Ruiz ◽

Bastien Joubert ◽

...

Keyword(s):

T Cell ◽

Clinical Presentation ◽

Age At Onset ◽

Acidic Protein ◽

Imaging Features ◽

Prodromal Symptoms ◽

Cell Dysfunction ◽

Good Outcome ◽

T Cell Dysfunction ◽

French Cohort

Objectives:To report the clinical, biological, imaging features, and the clinical course of a French cohort of patients with glial fibrillar acidic protein (GFAP) autoantibodies.Methods:We retrospectively included all patients tested positive for GFAP antibodies in the cerebrospinal fluid, by immunohistochemistry and confirmed by cell-based assay using cells expressing human GFAPα, since 2017, from two French referral centers.Results:We identified 46 patients with GFAP antibodies. Median age at onset was 43 years, and 65% were men. Infectious prodromal symptoms were found in 82%. Other auto-immune diseases were found in 22% of patients, and coexisting neural autoantibodies in 11%. Tumors were present in 24%, and T cell dysfunction in 23%. The most frequent presentation was subacute meningoencephalitis (85%) with cerebellar dysfunction in 57% of cases. Other clinical presentation included myelitis (30%), visual (35%) and peripheral nervous system involvement (24%). MRI showed perivascular radial enhancement in 32%, periventricular T2 hyperintensity in 41%, brainstem involvement in 31%, leptomeningeal enhancement in 26%, and reversible splenial lesions in 4 cases. 33/40 patients had a monophasic course, associated to a good outcome at last follow-up (Rankin Score≤2: 89%), despite a severe clinical presentation. Adult and pediatric features are similar. Thirty-two patients were treated with immunotherapy. 11/22 patients showed negative conversion of GFAP antibodies.Interpretation:GFAP auto-immunity is mainly associated with acute/subacute meningoencephalomyelitis with prodromal symptoms, for which tumors and T cell dysfunction are frequent triggers. The majority of patients followed a monophasic course with a good outcome.

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Metastatic prostate carcinoma to the intradural extramedullary spinal compartment

Journal of Neurosurgery Spine ◽

10.3171/spi.2004.100.4.0375 ◽

2004 ◽

Vol 100 (4) ◽

pp. 375-377 ◽

Cited By ~ 5

Author(s):

Stephen J. Hentschel ◽

Ehud Mendel ◽

Sanjay Singh ◽

Laurence D. Rhines

Keyword(s):

Prostate Carcinoma ◽

Clinical Presentation ◽

Spinal Column ◽

Leptomeningeal Carcinomatosis ◽

Imaging Features ◽

Content Type ◽

High Incidence ◽

Intradural Extramedullary ◽

Metastatic Prostate Carcinoma

✓ Despite the relatively high incidence of prostate carcinoma involving the spinal column, those that are associated with spinal intradural extramedullary metastases are rare. The role of surgery for metastases to this spinal compartment is limited and palliative because presentation tends to be late in the course of the disease, particularly for prostate carcinoma. It is also considered to be part of the spectrum of leptomeningeal carcinomatosis and is associated with a high incidence of brain metastases. The authors review a rare case of prostate carcinoma metastatic to the spinal intradural extramedullary space and discuss its clinical presentation, imaging features, and surgical management.

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Imaging appearances of toxic and acquired metabolic encephalopathic disorders

British Journal of Hospital Medicine ◽

10.12968/hmed.2019.80.7.372 ◽

2019 ◽

Vol 80 (7) ◽

pp. 372-376

Author(s):

Tharunniya Vamadevan ◽

David Howlett ◽

Maria Filyridou

Keyword(s):

Magnetic Resonance Imaging ◽

Magnetic Resonance ◽

Metabolic Disorders ◽

Clinical Presentation ◽

Carbon Monoxide Poisoning ◽

District General Hospital ◽

Imaging Features ◽

Resonance Imaging ◽

Diagnostic Uncertainty ◽

Pictorial Review

Most imaging findings relating to toxic and acquired metabolic disorders follow a certain pattern with affinity to a specific topographic area, which can help narrow the differential diagnosis. This is especially useful when the clinical presentation can be variable and there is diagnostic uncertainty. Usually, there is bilateral symmetrical abnormality within the deep grey matter structures and the cerebral cortex because of the high metabolic activity and raised oxygen requirements in these areas. Magnetic resonance imaging, particularly diffusion weighted imaging and fluid-attenuated inversion recovery sequences, is very important in differentiating between various aetiologies in this group. Magnetic resonance imaging can be useful in demonstrating both acute and chronic damage, in evaluating treatment response and in disease prognostication. This pictorial review discusses the computed tomography and magnetic resonance imaging appearances of a spectrum of toxic and metabolic disorders observed in a district general hospital with reference to clinical presentation and imaging features that may allow diagnosis. This includes carbon monoxide poisoning, hypoglycaemia, non-ketotic hyperglycaemia, osmotic demyelination syndrome, posterior reversible encephalopathy syndrome, hypoxic ischaemic encephalopathy, the syndrome of delayed post-hypoxic leukoencephalopathy, hepatic encephalopathy and cocaine toxicity.

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