Gastroparesis, Thymoma, and Asymptomatic Myasthenia: A Rare Clinical Scenario

Background: Paraneoplastic gastroparesis is a gastrointestinal syndrome that rarely precedes a tumor diagnosis. To increase awareness of this rare clinical entity, we present a case of severe gastroparesis, which was later proven to be associated with a thymoma. Case report: A 55-year old man had the sudden onset of severe abdominal cramps and abdominal distension, early satiety with postprandial nausea, acid regurgitation, belching, and flatulence. He lost about 20 pounds. The physical and imaging examination revealed stomach distension, gastroparesis, and the presence of a solid mass in the anterior mediastinum. Radical surgery was performed to remove the thymoma and, given the high value of Mib-1, the patient was submitted to postoperative chest radiation therapy. After thymectomy, a diagnosis of paraneoplastic myasthenia gravis with subacute autonomic failure was made. Conclusion: Autoimmune gastroparesis should be considered as a potential paraneoplastic syndrome in patients with thymoma, myasthenia gravis, and delayed gastric emptying in the absence of mechanical obstruction.

Relationships Between Cardiovascular Autonomic Profile and Work Ability in Patients With Pure Autonomic Failure

Pure autonomic failure (PAF) is a rare disorder belonging to the group of synucleinopathies, characterized by autonomic nervous system degeneration. Severe orthostatic intolerance with recurrent syncope while standing are the two most disabling manifestations. Symptoms may start at middle age, thus affecting people at their working age. The aims of this study were to evaluate the autonomic and work ability impairment of a group of PAF patients and assess the relationships between cardiovascular autonomic control and work ability in these patients. Eleven PAF patients (age 57.3 ± 6.7 years), engaged in work activity, participated in the study. They completed the Composite Autonomic Symptom Score (COMPASS-31, range 0 no symptom-100 maximum symptom intensity) and Work Ability questionnaires (Work Ability Index, WAI, range 7–49; higher values indicate better work ability and lower values indicating unsatisfactory or jeopardized work ability). Electrocardiogram, blood pressure and respiratory activity were continuously recorded for 10 min while supine and during 75° head-up tilt (HUT). Autoregressive spectral analysis of cardiac cycle length approximated as the time distance between two consecutive R-wave peaks (RR) and systolic arterial pressure (SAP) variabilities provided the power in the high frequency (HF, 0.15–0.40 Hz) and low frequency (LF, 0.04–0.15 Hz) bands of RR and SAP variabilities. Cardiac sympatho-vagal interaction was assessed by LF to HF ratio (LF/HF), while the LF power of SAP (LFSAP) quantified the vascular sympathetic modulation. Changes in cardiovascular autonomic indexes induced by HUT were calculated as the delta (Δ) between HUT and supine resting positions. Spearman correlation analysis was applied. PAF patients were characterized by a moderate autonomic dysfunction (COMPASS-31 total score 47.08 ± 20.2) and by a reduction of work ability (WAI 26.88 ± 10.72). Direct significant correlations were found between WAI and ΔLFRR (r = 0.66, p = 0.03) and ΔLF/HFRR (r = 0.70, p = 0.02). Results indicate that patients who were better able to modulate heart rate, as revealed by a greater cardiac sympathetic increase and/or vagal withdrawal during the orthostatic stimulus, were those who reported higher values of WAI. This finding could be relevant to propose new strategies in the occupational environment to prevent early retirement or to extend the working life of these patients.

A Case of Multiple System Atrophy (MSA) – First Presentation in a Psychiatry Service

A 67 years old female developed cognitive defficits, depression and anxiety as first symptoms of multiple system atrophy (MSA). In the course of an year autonomic failure, parkinsonism and cerebellar ataxia also developed. The case is particular because of the somatic symptoms that were initially categorised as psychogenic, the presence of confusional and vertigo episodes that were recurring but not permanent.

The role of cardiovascular autonomic failure in the differential diagnosis of α-synucleinopathies

The α-synucleinopathies comprise a group of adult-onset neurodegenerative disorders including Parkinson’s disease (PD), multiple system atrophy (MSA), dementia with Lewy bodies (DLB,) and — as a restricted non-motor form — pure autonomic failure (PAF). Neuropathologically, the α-synucleinopathies are characterized by aggregates of misfolded α-synuclein in the central and peripheral nervous system. Cardiovascular autonomic failure is a common non-motor symptom in people with PD, a key diagnostic criterion in MSA, a supportive feature for the diagnosis of DLB and disease-defining in PAF. The site of autonomic nervous system lesion differs between the α-synucleinopathies, with a predominantly central lesion pattern in MSA versus a peripheral one in PD, DLB, and PAF. In clinical practice, overlapping autonomic features often challenge the differential diagnosis among the α-synucleinopathies, but also distinguish them from related disorders, such as the tauopathies or other neurodegenerative ataxias. In this review, we discuss the differential diagnostic yield of cardiovascular autonomic failure in individuals presenting with isolated autonomic failure, parkinsonism, cognitive impairment, or cerebellar ataxia.

A Pediatric Case of Benign Episodic Unilateral Mydriasis with Clinical Characteristics Resembling Tadpole Pupil

Benign episodic unilateral mydriasis is an episodic disturbance with dilatation of the entire pupil, often lasting for hours. It occurs most frequently in women aged between 20 and 50 years and is closely associated with migraines. Only a few pediatric cases have been reported. The demographics of benign unilateral mydriasis correspond to another episodic disturbance of the pupil, the tadpole pupil. Also, the clinical similarities between the two conditions are numerous. However, tadpole pupil is an irregular distortion of the pupil lasting from seconds to minutes and occurring in clusters. We present a 16-year-old girl with benign unilateral mydriasis and migraine. Her episodes of mydriasis lasted from seconds to minutes, occurred in clusters, and were thus like episodes of tadpole pupil. Benign unilateral mydriasis presenting this way has not been reported previously. This observation links the phenotypes of benign unilateral mydriasis and tadpole pupil closer together. The given case provides new knowledge as it (i) expands the clinical spectrum of benign episodic unilateral mydriasis, (ii) links the phenotypes of benign unilateral mydriasis and tadpole pupil together, and (iii) in comparison with knowledge about autonomic failure in migraine patients may add to hypotheses on pathophysiology in both pupillary disorders.