Paroxysmal Dystonia with Axonal Neuropathy Resulting from Benignant Insulinoma: Case Report.
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ABSTRACT:
SUBMITTER: Pozzi NG
PROVIDER: S-EPMC6353459 | biostudies-literature | 2015 Mar
REPOSITORIES: biostudies-literature
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Paroxysmal Dystonia with Axonal Neuropathy Resulting from Benignant Insulinoma: Case Report.
Pozzi Nicolò Gabriele NG De Marzi Roberto R Zangaglia Roberta R Minafra Brigida B Pacchetti Claudio C
Movement disorders clinical practice 20150224 1
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Project description:BACKGROUND:Ectopic insulinoma is a rare entity that is difficult to diagnose before surgery. This article reports two cases of ectopic insulinoma. CASE PRESENTATION:Two patients manifested recurrent hypoglycemia with a typical Whipple triad. In terms of the qualitative diagnosis, the oral glucose tolerance test (OGTT) suggested a diagnosis of hyperinsulinemic hypoglycemia. However, preoperative imaging did not show a significant mass in the pancreas. In one patient, preoperative abdominal enhanced volume perfusion computed tomography (CT), somatostatin receptor imaging and 99mTc-HYNIC-TOC SPECT/CT revealed a mass with a rich blood supply anterior to the duodenum. In the other patient, preoperative enhanced CT, magnetic resonance imaging (MRI) and 68Ga-Exendin-4 PET/CT showed a mass above the spleen. After surgical removal of the tumor, both patients received a confirmed diagnosis of neuroendocrine tumors by postoperative pathology. The symptoms of hypoglycemia were relieved after surgery, and the blood glucose level was significantly increased. CONCLUSION:Ectopic insulinoma is difficult to locate before surgery. 68Ga-Exendin-4 PET/CT has a high diagnostic value. Surgical removal of the lesion is main treatment.
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Project description:BackgroundRecessive loss-of-function mutations in HINT1 are associated with predominantly motor axonal peripheral neuropathy with neuromyotonia. Twenty-four distinct pathogenic variants are reported all over the world, including four confirmed founder variations in Europe and Asia. The majority of patients carry the ancient Slavic founder variant c.110G>C (p.Arg37Pro) that shows a distribution gradient from east to west throughout Europe.MethodsWe report a case of HINT1 neuropathy in South America, identified by massive parallel sequencing of a neuropathy gene panel. To investigate the origin of the variant, we performed haplotyping analysis.ResultsA Brazilian adolescent presented with recessive axonal motor neuropathy with asymmetric onset and fasciculations. Neuromyotonia was found on needle electromyography. His parents were not consanguineous and had no European ancestry. The patient carried biallelic pathogenic p.Arg37Pro alterations in the first exon of HINT1. Both alleles were identical by descent and originated from the same ancestral founder allele as reported in Europe.ConclusionOur findings expand the geographic distribution of HINT1 neuropathy to South America, where we describe a recognized founder variant in a Brazilian adolescent with no apparent European ancestry. We confirm the association of the hallmark sign of neuromyotonia with the disease.
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Project description: Not available
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Project description:Insulinomas are rare gastrointestinal tumors with an incidence of 1-3 per million inhabitants annually. These tumors result in excessive insulin production, culminating in hypoglycemia. Such hypoglycemia triggers various central nervous system (CNS) manifestations, including headache, confusion, abnormal behavior, and epileptic seizures, which can lead to misdiagnosis as epilepsy. This case report documents a 46-year-old male who presented seizure-like episodes. Episodes occurred mainly during the night, lasting several minutes to hours. Initial seizures were characterized by bizarre behavior and altered responsiveness. Over time, seizure frequency, complexity, and severity escalated. We managed to record two episodes during long-term EEG and report, as the first ones, the detailed quantitative EEG analysis of these hypoglycemia-related events. EEG changes preceded the development of clear-cut pathological motor activity in tens of minutes and were present in all investigated frequency bands. The development of profound motor activity was associated with other increases in EEG power spectra in all frequencies except for delta. The most pronounced changes were found over the left temporal region, which can be the most susceptible to hypoglycemia. In our patient, the seizure-like episodes completely disappeared after the insulinoma removal, which demonstrates their relationship to hypoglycemia.
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Project description:Paroxysmal kinesigenic dyskinesia (PKD) is characterized by transient and recurrent involuntary movements that are triggered by a sudden movement. Here, we report an elderly female patient with a 1-month history of paroxysmal rigidity of the right limb. As the symptoms were characterized as paroxysmal, transient, and repetitive, her condition was initially thought to be epilepsy. Subsequent examinations showed no abnormality in the continuous video-electroencephalogram (EEG) monitoring, magnetic resonance imaging (MRI), fluorodeoxyglucose (FDG)-positron emission tomography (PET)/computed tomography (CT), and genetic testing. The final diagnosis was identified as clinically diagnosed PKD, and the symptoms were well controlled after oxcarbazepine treatment. To our knowledge, this is the first report to show elderly-onset PKD. This case expands our understanding of the age of onset of PKD. However, it is necessary to differentiate PKD from reflex epilepsy and hysteria attacks. For patients with typical clinical manifestations, we should adhere to the standard diagnostic workflow for the efficient diagnosis of PKD, aiming at avoiding misdiagnosis and mistreatment.
| S-EPMC9588133 | biostudies-literature
Project description:IntroductionInsulinoma is a functioning pancreatic neuroendocrine tumor primarily leading due to hypoglycemia due to hypersecretion of insulin. This case illustrates the real challenges faced in the detection of an occult insulinoma, which resulted in a protracted course of the disease.Case presentationA 33-year-old female presented with recurrent hypoglycemia. Endogenous hyperinsulinemia was confirmed by a prolonged fast, however serial imaging was negative. Incidental finding of an ovarian mass gave rise to the suspicion of an insulin-producing ovarian tumor. Subsequent multimodality pancreatic imaging remained negative, requiring more invasive investigations. The tumor was localized by specialized arteriography using calcium stimulation to support the diagnosis of an insulinoma. However, repeated negative imaging led to further delays in definitive management, with worsening hypoglycemia. The surgery was finally performed three years after the initial presentation with successful removal of the tumor using intra-operative ultrasound.Clinical discussionIt is important to emphasize that preoperative radiological imaging is useful to localize pancreatic lesions. However, most insulinomas could only be detected intraoperatively. The absence of suggestive radiological evidence should not deter surgeons from proceeding with definitive surgical intervention.ConclusionThe case highlights the importance of a multidisciplinary approach in the management of a complicated case.
| S-EPMC8040123 | biostudies-literature
Project description:Dystonia is defined as a neurological syndrome characterized by involuntary sustained or intermittent muscle contractions causing twisting, often repetitive movements, and postures. Paroxysmal dyskinesias are episodic movement disorders encompassing dystonia, chorea, athetosis, and ballism in conscious individuals. Several decades of research have enhanced the understanding of the etiology of human dystonia and dyskinesias that are associated with dystonia, but the pathophysiology remains largely unknown. The spontaneous occurrence of hereditary dystonia and paroxysmal dyskinesia is well documented in rodents used as animal models in basic dystonia research. Several hyperkinetic movement disorders, described in dogs, horses and cattle, show similarities to these human movement disorders. Although dystonia is regarded as the third most common movement disorder in humans, it is often misdiagnosed because of the heterogeneity of etiology and clinical presentation. Since these conditions are poorly known in veterinary practice, their prevalence may be underestimated in veterinary medicine. In order to attract attention to these movement disorders, i.e., dystonia and paroxysmal dyskinesias associated with dystonia, and to enhance interest in translational research, this review gives a brief overview of the current literature regarding dystonia/paroxysmal dyskinesia in humans and summarizes similar hereditary movement disorders reported in domestic animals.
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Project description:Paroxysmal kinesigenic dyskinesia (PKD) is characterized by sudden episodes of involuntary movements. PKD is a very rare movement disorder, and correct clinical diagnosis is often a challenge.We present the case of a 23-year-old female with PKD. The patient showed episodes of twisting movements for 3 years. The symptoms lasted for about 5-10 minutes and subsided spontaneously. She was diagnosed as having epilepsy, and depressive and anxiety disorders successively. However, her symptoms did not alleviate after taking sodium valproate and antidepressants. Though there were no mutations in her PRRT2 gene, carbamazepine was used for treatment and was effective in controlling her symptoms.The clinical features of PKD patients are not always typical; therefore, it is important to distinguish PKD from the other subtypes of paroxysmal dyskinesia and psychogenic disorders.
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Project description:Fluoroquinolones, a class of antibiotics, are commonly employed in the treatment of a wide array of bacterial infections. Recognized for their effectiveness against a broad spectrum of pathogens, fluoroquinolones have played a pivotal role in managing conditions like urinary tract infections and respiratory diseases. Nevertheless, their usage is not without contention due to their association with a variety of adverse effects, including tendon rupture and the less frequently reported issue of peripheral neuropathy. We present the case of a 42-year-old male who developed peripheral neuropathy several days after completing a 10-day course of ciprofloxacin for gastroenteritis. The patient's presenting complaint was bilateral upper and lower extremity weakness for which inpatient treatment was initiated and workup for other causes was negative. Nerve conduction studies (NCS) and electromyography (EMG) demonstrated peripheral neuropathy. The patient was treated with intravenous immunoglobulin (IVIG), steroids, and physical therapy. Followup NCS and EMG showed continued neuropathy but with significant improvement. The case aligns with existing research, demonstrating that fluoroquinolone use is linked to peripheral neuropathy, particularly axonal polyneuropathy, and emphasizes the importance of investigating the underlying mechanism for improved therapeutic strategies. The potential combination of intravenous immunoglobulin and physical therapy has exhibited promising results.
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