Rare Neurologic Presentation of Thyrotoxicosis
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PROVIDER: S-EPMC10509369 | biostudies-literature | 2023 Jan
REPOSITORIES: biostudies-literature
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Project description:ObjectiveTo describe the clinical presentation and unique neurologic manifestations of sandfly viruses (SFVs) in the Jerusalem area.MethodsWe identified all patients with acute seroconversion to SFV at the Hadassah-Hebrew University Medical Centers during the years 2008-2013 and retrospectively collected and analyzed the clinical and imaging data.ResultsNine patients (ranging from 1.5 to 85 years old) were identified. Presentation included acute neurologic disease, mostly with fever, change in consciousness and behavior, seizures, headache, meningitis, limb paresis, or myelitis. Eight patients had clinical signs of meningitis, meningoencephalitis, or encephalitis alone. Four patients had myelitis. MRI identified pathologic symmetrical changes in the basal ganglia, thalami, and other deep structures in 5 patients, and additional myelitis of the spine was noted on imaging in 3 patients. Seven patients had long-term follow-up: 4 completely recovered and 3 had remaining neurologic sequelae, among them 1 with permanent severe brain damage.ConclusionNeurologic involvement associated with acute SFV infections is considered to be benign. However, in this series, all 9 patients presented with significant neurologic pathology associated with a unique finding of myelitis and symmetrical basal ganglia, thalami, or white matter involvement. Thus, acute SFV infection should be included in the differential diagnosis in febrile onset of neurologic manifestations and neuroradiologic changes.
| S-EPMC4701137 | biostudies-literature
Project description:Tyrosine hydroxylase deficiency (THD) is a treatable inborn error of dopamine biosynthesis caused by mutations in TH. Two presentations are described. Type A, milder, presents after 12 months of age with progressive hypokinesis and rigidity. Type B presents before 12 months as a progressive complex encephalopathy. We report a girl with mild THD who had recurrent episodes of neurological decompensations. Before the first episode, she had normal development except for mild head tremor. Episodes occurred at 12, 19, and 25 months of age. After viral infections or vaccination, she developed lethargy, worsened tremor, language, and motor regression including severe axial hypotonia, recuperating over several weeks of intensive rehabilitation but with residual tremor and mild lower limb spasticity. Basal ganglia imaging was normal. Exome sequencing revealed two missense variants of uncertain significance in TH: c.1147G>T and c.1084G>A. Both have low gnomAD allele frequencies and in silico, are predicted to be deleterious. Cerebrospinal fluid analysis showed low homovanillic acid (HVA, 160 nmol/L, reference 233-938) and low HVA/5-hydroxyindolacetic acid molar ratio (1.07, reference .5-3.5). She responded rapidly to L-Dopa/carbidopa without further episodes. Literature review revealed four other THD patients who had a total of seven episodes of marked hypotonia and motor regression following infections, occurring between ages 12 months and 6 years. All improved with L-Dopa/carbidopa treatment. Intermittent THD is treatable, important for genetic counseling, and should be considered after even a single episode of marked hypotonia with recuperation over weeks, especially in patients with preexisting tremor, dystonia, or rigidity.
| S-EPMC9458604 | biostudies-literature
Project description:There is a lack of information about a mixed type of amiodarone-induced thyrotoxicosis (AIT) after heart transplantation (HTx) with no amiodarone treatment in almost 1 year. Frequent ventricular extrasystoles (VES) associated with a mixed type of AIT can often be treated using thiamazole and prednisolone, without the need for specific antiarrhythmic treatment. We present a clinical case of a 65-year-old heart transplanted male patient with frequent VES associated with mixed type of AIT. Recipient had managed with amiodarone prior to HTx but there were no indications for it after the surgery. One year after antiarrhythmic treatment was discontinued, monomorphic VES (total amount: 27 472/day) were diagnosed. In addition, our investigation revealed that thyrotoxicosis developed. Prednisolone and thiamazole were added to the treatment with positive outcomes. The antithyroid treatment had been discontinued after 9 months and results of the 24-h Holter electrocardiogram monitoring showed only two VES/24 h. The case highlights the association of amiodarone, thyroid disorders, and VES. In mixed type AIT or if diagnosis is uncertain, it is reasonable to use mixed therapy. Next is to decide whether you need special treatment for VES. There was no evidence of ventricular tachycardia. Thyroid function tests remained normal off antithyroid medications and the total amount of VES significantly decreased. There were no indications for any antiarrhythmic treatment or ablation.
| S-EPMC6601152 | biostudies-literature
Project description:Infection with Usutu virus (USUV) has been recently associated with neurologic disorders, such as encephalitis or meningoencephalitis, in humans. These findings indicate that USUV is a potential health threat. We report an acute human infection with USUV in France putatively associated with a clinical diagnosis of idiopathic facial paralysis.
| S-EPMC5938765 | biostudies-literature
Project description:IntroductionBreast Cutaneous Horn is a rare case whereby they are basically just nodules composed of keratin projecting above the surface the skin.Presentation of caseA 63-year-old lady, para 6 presented with a horn like growth for the past 2 years associated with itchiness. The horn increased in size to about a length of 5 cm associated with on and off itchiness over the horn. No signs and symptoms of malignancy. As comorbidities, patient has hypertension and dyslipidemia which is well controlled on medications. An ultrasound of the breast revealed cutaneous lesion at upper quadrant associated with adjacent skin thickening and no extension into breast parenchyma. A bedside excision was done and the specimen was sent for Histopathology. Histopathology of the lesion revealed Verruca Vulgaris.DiscussionThis case brings to our attention a rare presentation of cutaneous horn over the breast along with its histological findings helping us to distinguish it with other similar cases. Best management would be by excision and to making sure to get a good specimen of the base for dermatopathological evaluation purpose.ConclusionCutaneous horns are usually benign lesions. However, there are chances of it being malignant. Therefore, it is best for early intervention such as excision followed by histopathological review for further thorough management.
| S-EPMC9142394 | biostudies-literature
Project description:Botulism is a dreadful, life-threatening, neuroparalytic disease caused by gram positive bacteria Clostridium botulinum. Food borne botulism has been described following ingestion of preformed toxins in canned food or food products that have not been preserved properly. Botulinum toxin acts on neuromuscular junction and manifests as ophthalmoplegia, bulbar and limb weakness, and autonomic features along with respiratory compromise. The literature and case reports regarding neuroparalytic botulism in India are sparse. Generalized fasciculations have been rarely reported in literature as manifestation of food borne botulism. We present a 35-year-male presenting with usual features described, but with prominent generalized fasciculations which are rare, and which rapidly responded to treatment.
| S-EPMC3931218 | biostudies-literature
Project description:ImportanceSex differences have been described in the presentation, care, and outcomes among people with acute ischemic strokes, but these differences are less understood for minor ischemic cerebrovascular events. The present study hypothesized that, compared with men, women are more likely to report nonfocal symptoms and to receive a stroke mimic diagnosis.ObjectiveTo evaluate sex differences in the symptoms, diagnoses, and outcomes of patients with acute transient or minor neurologic events.Design, setting, and participantsThis prospective cohort study of patients with minor ischemic cerebrovascular events or stroke mimics enrolled at multicenter academic emergency departments in Canada between December 2013 and March 2017 and followed up for 90 days is a substudy of SpecTRA (Spectrometry for Transient Ischemic Attack Rapid Assessment). In total, 1729 consecutive consenting patients with acute transient or minor neurologic symptoms were referred for neurologic evaluation; 66 patients were excluded for protocol violation (n = 46) or diagnosis of transient global amnesia (n = 20).ExposuresThe main exposure was female or male sex.Main outcomes and measuresThe main outcome was the clinical diagnosis (cerebral ischemia vs stroke mimic). Secondary outcomes were 90-day stroke recurrence and 90-day composite outcome of stroke, myocardial infarction, or death. The association between presenting symptoms (focal vs nonfocal) and clinical diagnosis was also assessed. Research hypotheses were formulated after data collection.ResultsOf 1648 patients included, 770 (46.7%) were women, the median (interquartile range) age was 70 (59-80) years, 1509 patients (91.6%) underwent brain magnetic resonance imaging, and 1582 patients (96.0%) completed the 90-day follow-up. Women (522 of 770 [67.8%]) were less likely than men (674 of 878 [76.8%]) to receive a diagnosis of cerebral ischemia (adjusted risk ratio [aRR], 0.88; 95% CI, 0.82-0.95), but the 90-day stroke recurrence outcome (aRR, 0.90; 95% CI, 0.48-1.66) and 90-day composite outcome (aRR, 0.86; 95% CI, 0.54-1.32) were similar for men and women. No significant sex differences were found for presenting symptoms. Compared with patients with no focal neurologic symptoms, those with focal and nonfocal symptoms were more likely to receive a diagnosis of cerebral ischemia (aRR, 1.28; 95% CI, 1.15-1.39), but the risk was highest among patients with focal symptoms only (aRR, 1.45; 95% CI, 1.34-1.53). Sex did not modify these associations.Conclusions and relevanceThe results of the present study suggest that, despite similar presenting symptoms among men and women, women may be more likely to receive a diagnosis of stroke mimic, but they may not have a lower risk than men of subsequent vascular events, indicating potentially missed opportunities for prevention of vascular events among women.
| S-EPMC6537759 | biostudies-literature
Project description:CDKL5 deficiency disorder (CDD) is a developmental encephalopathy caused by pathogenic variants in the X-linked cyclin-dependent kinase 5 (CDKL5) gene. This rare disorder occurs more frequently in females than in males. The incidence is estimated to be approximately 1: 40,000-60,000 live births. So far, 50 cases have been described in boys. The clinical course in males tends to be more severe and is often associated with death in the first or second decade of life. The authors present an unreported 2.5-year-old male patient with drug-resistant epilepsy who was diagnosed with a de novo mutation in the CDKL5 gene. First seizures developed in the fifth week of life and have progressed steadily since then. The child's psychomotor development was strongly delayed, and generalized hypotonia was noticed since birth. Brain MRI showed areas of incomplete myelination, posterior narrowing of the corpus callosum, a pineal cyst of up to 3 mm, and open islet lids. Intensive antiseizure medications (ASMs), a ketogenic diet, and steroid therapy were not successful. Short-term improvement was achieved with the implantation of a vagal nerve stimulator (VNS). Due to the progressive course of the disease, the boy requires frequent modification of ASMs.
| S-EPMC9776588 | biostudies-literature
Project description:There have been anecdotal reports of tuberculous cardiac involvement, mainly in cases of military tuberculosis or immune deficient individuals. The spectrum of clinical presentations of tuberculous cardiac involvements includes incidental detection of single and multiple well-circumscribed tuberculomas, symptomatic obstructive lesions, AV conduction abnormalities, and even sudden death. We present a case of cardiac tuberculoma in an immune-competent person who presented with worsening dyspnea. The unique morphology of this mass posed an imaging challenge that required 4-dimensional (4D) echocardiography and cardiac magnetic resonance (CMR) detail to differentiate the mass from an anterior mitral leaflet (AML) aneurysm. Histological examination after surgical resection confirmed its tuberculous etiology.
| S-EPMC5651129 | biostudies-literature
Project description:Proteus syndrome (PS) is an extremely rare and complex disorder. Approximately 200 cases have been reported, and it seems to affect people of all ethnic and racial groups. PS is characterized by segmental overgrowth of multiple tissues and organs including vascular malformations, lipomatous overgrowth, hyperpigmentation, and various types of nevi. We hereby present a 7-year-old boy who presented with seizures and overgrowth of one-half of the body. Although classical physical features have been described, epilepsy and other neurological manifestations are rarely reported features of PS. Early detection of association of epilepsy and hemimegalencephaly with PS can prevent/minimize the neurological complications, disability, morbidity, and mortality.
| S-EPMC5437773 | biostudies-literature