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Mashup Score: 71Clinical Reasoning: Progressive Peripheral Neuropathy in a 66-Year-Old Woman With Sezary Syndrome | Neurology - 4 month(s) ago
Evaluating patients with neuropathy is common, especially in elderly patients with comorbidities. Neuropathy can often be a manifestation of systemic diseases, cancer, or drug-induced toxicity; thus, the differential diagnosis is challenging. The …
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Mashup Score: 13Aicardi-Goutières Syndrome-1 | Neurology® Journals - 4 month(s) ago
Aicardi-Gouti è res syndrome-1 (AGS1) is an autosomal recessive autoimmune interferonopathy affecting infants, marked by neurologic symptoms like poor head control, dystonia, and language impairments, alongside chilblains. 1 Imaging shows microcephaly, brain atrophy, and intracranial calcifications, especially in the basal ganglia and white matter. 2 Elevated IFN- α (interferon) in cerebrospinal fluid is detected via ELISA. 3 AGS1 results from TREX1 gene mutations, which encodes a DNA 3′-5′ exonuclease
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Mashup Score: 9Neuronal Ceroid Lipofuscinosis | Neurology® Journals - 4 month(s) ago
Neuronal ceroid lipofuscinosis (NCL), also called Batten disease, refers to a group of genetically diverse lysosomal storage diseases in which autofluorescent ceroid lipofuscin granules accumulate intracellularly. 1 Different forms may classically present congenitally (such as CLN10), in infancy (such as CLN1), childhood, or adulthood. Symptoms include progressive cognitive decline, epilepsy, ataxia, and vision loss. Most forms of Batten disease lack disease-modifying treatments. However, CLN2, caused by
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Mashup Score: 106Pearls & Oy-sters: Neurologic Involvement in Shiga Toxin–Associated Hemolytic Uremic Syndrome | Neurology - 4 month(s) ago
Shiga toxin–producing Escherichia coli (STEC) is among the most common pathogens that cause bacterial enteritis. They can also lead to extraintestinal manifestations including hemolytic uremic syndrome (HUS), which is defined by the triad of hemolytic …
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Mashup Score: 107Child Neurology: Acute Necrotizing Encephalopathy of Childhood Associated With Dengue | Neurology - 4 month(s) ago
Acute necrotizing encephalopathy of childhood (ANEC) is characterized by a rapidly progressive encephalopathy after a viral febrile illness, with multiple, symmetrical lesions in the brain including the thalami. Acute dengue fever is a known, but rare, …
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Mashup Score: 5Deep Abdominal Reflex in a Patient With ALS | Neurology® Journals - 4 month(s) ago
A 57-year-old man presented with progressive asymmetric quadriparesis with dysphagia of 8 months. He had both lower motor neuron signs of fasciculations and tongue atrophy as well as upper motor neuron signs of brisk deep tendon reflexes and upgoing toes consistent with amyotrophic lateral sclerosis (ALS). Dissociation of abdominal reflexes with absent superficial and exaggerated deep abdominal reflexes was noted. The deep abdominal reflex is a muscle stretch reflex analogous to the deep tendon reflexes.
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Mashup Score: 20Anti-IgLON5 Disease | Neurology® Journals - 4 month(s) ago
Anti-IgLON5 disease is a recently described disorder characterized by autoinflammation targeted against neural cell adhesion proteins (IgLON5) and by tau-mediated neurodegeneration primarily affecting the brainstem tegmentum and hypothalamus. 1, 2 Patients commonly exhibit bulbar symptoms, dysautonomia, sleep disorders, and gait abnormalities. 1, 2 The distinctive sleep disorder includes rapid-eye movement (REM) and non-REM parasomnias and stridor with obstructive sleep apnea. 2 This condition can mimic
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Mashup Score: 37Pearls & Oy-sters: Vocal Cord Palsy as the Presenting Manifestation of Neurosarcoidosis | Neurology - 4 month(s) ago
Neurosarcoidosis poses a significant diagnostic challenge due to the diversity of presenting symptoms. We report a case of a 64-year-old woman with a history of hypertension and diabetes who presented with 3 weeks of progressive dysphonia and dysphagia. …
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Mashup Score: 86Clinical Reasoning: A 32-Year-Old Man With Painless Bilateral Shoulder Girdle Weakness and Atrophy | Neurology - 4 month(s) ago
We report a case of 32-year-old man with progressive, asymmetric, proximal weakness of both upper limbs for 14 months. On examination, he had gynecomastia and wasting and weakness of his deltoid, supraspinatus, infraspinatus, pectoralis, biceps, and …
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Mashup Score: 48Parinaud Syndrome (Dorsal Midbrain Syndrome) | Neurology® Journals - 5 month(s) ago
Parinaud syndrome is a rare neuro-ophthalmologic condition that comprises a classic triad of upward gaze palsy (from damage to the rostral interstitial nucleus of the medial longitudinal fasciculus and its connections), pupillary light-near dissociation (from involvement of the pretectal and Edinger-Westphal nuclei or decussating fibers of the pretectal nucleus in the posterior commissure), and convergence-retraction nystagmus (from disruption of the midbrain supranuclear fibers). 1,2 Patients may
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