Recurrent brachial plexopathy as initial presentation of systemic lupus erythematosus: A case report and review of the literature.

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that affects many organs of the body including the peripheral nervous system (PNS) which has potential significant impact. Plexopathy is rare but one of the serious PNS manifestations of lupus. CASE: A 41-year-old female presented with recurrent attacks of painful brachial plexopathy and right hemi-diaphragmatic paralysis. After extensive workup, she was diagnosed with SLE and started on hydroxychloroquine and mycophenolate mofetil. The frequency and severity of the attacks of plexopathy has significantly improved after starting the immune suppressive therapy for SLE. Whole exome sequencing unveiled previously unreported mutations encoding non-synonymous amino acids in titin and minichromosome maintenance 3-associated protein. CONCLUSION: Recurrent attacks of painful brachial plexopathy may warrant careful evaluation for underlying SLE with a premise of therapeutic benefit.

Autonomic Reflex Screen Test Abnormalities in Cold-Induced Sweating Syndrome Type 1.

Cold-induced sweating syndrome (CISS) is a rare autosomal recessive disease due to mutation in the Cytokine receptor-like factor 1 (CRLF1). The characteristic symptom of CISS is the tendency to sweat profusely especially in the upper body and hands when the patient is exposed to cold temperature. We sought to first report the findings of autonomic reflex screen in a case of CISS type 1 with Cytokine receptor-like factor 1 mutation. Valsalva morphology, Valsalva ratio, and heart rate response to deep breathing were normal for the patient's age. Quantitative sudomotor axon reflex test showed nonlength dependent decrease in the sweat volume. Tilt table revealed evidence of reflex (vasovagal) "syncope," however, the patient was asymptomatic without loss of consciousness.

Histopathologic Findings in 5 Patients With Hypomyopathic Dermatomyositis: The Importance of MHC-1 Expression on Myofibers.

Muscle histopathologic findings in hypomyopathic dermatomyositis (HDM) have not been adequately characterized. We sought to determine the results of conventional and immunohistopathology in HDM. Light microscopic and immunohistochemical analysis was performed on muscle from 5 patients with HDM without muscle weakness. Ages ranged from 49 to 56 years. Creatine kinase level was normal. Electromyography showed mild "myopathic" changes in 2. The median duration of skin disease before biopsy was 18 months. Abnormal major histocompatibility (MHC) class I immunoreactivity was noted in myofibers in all specimens even when conventional histopathology was normal (1 patient) or only mildly abnormal (3 patients). One specimen had the characteristic findings of dermatomyositis. Patchy MHC-1 expression on myofibers was a consistent finding in HDM in the absence of other histopathologic abnormalities. The presence of MHC-1 expression could indicate a degree of endoplasmic reticulum stress even in the absence of clinical muscle weakness, muscle enzyme abnormalities, or significant inflammatory infiltrate.

Undiagnosed patent foramen ovale presenting as a cryptogenic brain abscess: case report and review of the literature.

A 43-year-old man with no significant medical history but poor oral hygiene presented with fever and new-onset tonic-clonic seizures secondary to a left parieto-occipital brain abscess defined by computed tomography, magnetic resonance imaging, and surgical evacuation. A comprehensive workup looking for a source of infection was unremarkable including computed tomography of the chest, abdomen, and pelvis; blood cultures; and a tagged white blood cell scan. A transesophageal echocardiogram bubble study revealed the presence of a patent foramen ovale (PFO) but no other abnormalities. Culture of the material obtained at surgery revealed flora commonly found in the oropharynx that responded to antibiotic therapy. A review of the literature revealed three other cases in which a brain abscess from flora commonly found in the oropharynx was associated with a PFO. We hypothesize that the underlying mechanism is a significant bacterial load from poor dentition that enters the arterial circulation through a PFO and forms the nidus for a brain abscess. Surgical evacuation is the preferred method for diagnosis and initial treatment. If a brain abscess is identified without any adjacent source of infection, a recent head trauma, or a neurosurgical procedure, then a transesophageal echocardiogram is indicated to exclude a PFO. If a PFO is found, then hematogenous spread of flora normally found in the oropharynx through a right to left shunt should be suspected. Surgical evacuation followed by intravenous antibiotics specific to the identified organisms is warranted. Once the infection is eliminated, anatomic closure of the PFO with good oral hygiene practices may be the best course of action for preventing recurrences.