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Cureus Jul 2023Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea....
Wilson's disease (WD) is an inherited disorder characterized by the accumulation of copper in various organs, particularly the liver, central nervous system, and cornea. The clinical presentation of WD can vary widely. Diagnosis requires a combination of clinical and biochemical findings. We present a case of a 20-year-old woman who presented to the Emergency Room with progressive motor decline. She exhibited characteristic neurological symptoms and signs, such as hypomimia, bradyphrenia, bradykinesia, dysarthria, sialorrhea, upper limb dystonia, and wing-beating tremor. Ophthalmological examination revealed corneal deposits known as Kayser-Fleischer rings. Laboratory investigations demonstrated low levels of ceruloplasmin and elevated serum copper. Brain MRI showed typical signs of copper deposition in the basal ganglia. The Leipzig criteria were used to confirm the diagnosis. Treatment with penicillamine and zinc acetate resulted in symptom improvement. This case highlights the diverse presentation of WD and the importance of early diagnosis and prompt treatment initiation.
PubMed: 37644923
DOI: 10.7759/cureus.42655 -
International Journal of Surgery Case... Sep 2023Paediatric foreign body (FB) ingestion remains to be a common encounter in otorhinolaryngology and may manifest with pulmonary manifestations. Pulmonary manifestations...
INTRODUCTION
Paediatric foreign body (FB) ingestion remains to be a common encounter in otorhinolaryngology and may manifest with pulmonary manifestations. Pulmonary manifestations masquerading chronic esophageal FBs in children is rare in clinical practice. This is perhaps the first documented case in Tanzania.
CASE PRESENTATION
The patient was a 6-year old boy with a 6-month history of ingesting a metallic object. The child was reported to have presented with sudden onset of drooling of saliva and difficulty in swallowing that lasted for several hours. While preparing to visit a hospital, no more drooling of saliva was noted thus the visit was cancelled. A month later the patient presented with recurrent episodes of dry cough associated with wheezing and unresponsive to medical treatment. Upon attending other health facilities no chest X-ray was ordered but rather prescribed antibiotics, mucolytics, antihistamines and antileukotrienes without relief. Chest x-ray was indicated and revealed an esophageal metallic object. Rigid esophagoscopy under general anaesthesia yielded the rusted metallic object in piece meals. Postoperative antibiotic, analgesic and an oral corticosteroid were prescribed. Postoperative visits were uneventful.
CLINICAL DISCUSSION
The patient underwent esophagoscopy and the rusted` metallic object was extracted in piece meals. Postoperative antibiotic, analgesic and oral corticosteroid were prescribed. Postoperative visits were uneventful.
CONCLUSION
It is always important to suspect FB ingestion in a child with a history of sudden onset of drooling of saliva and difficulty in swallowing. Imaging should be advocated to avoid delayed diagnosis otherwise pulmonary manifestations can masquerade the diagnosis of chronic esophageal FBs.
PubMed: 37634433
DOI: 10.1016/j.ijscr.2023.108683 -
Journal of Clinical Medicine Aug 2023Sialorrhea is common in children with neurodevelopmental disabilities (NDD) and is reported in >40% of children with cerebral palsy (CP). It causes a range of...
Sialorrhea is common in children with neurodevelopmental disabilities (NDD) and is reported in >40% of children with cerebral palsy (CP). It causes a range of complications, including significant respiratory morbidity. This single-center retrospective chart review aims to document sublingual atropine (SLA) utilization to guide further study in establishing its role in secretion management for children with NDD. A chart review was completed for patients with NDD ≤ 22 years of age treated with SLA at a free-standing children's hospital between 1 January 2016 and 1 June 2021. Descriptive statistics were generated to summarize findings. In total, 190 patients were identified, of which 178 met inclusion criteria. The average starting dose for SLA was 1.5 mg/day, or 0.09 mg/kg/day when adjusted for patient weight. Eighty-nine (50%) patients were prescribed SLA first line for secretion management while 85 (48%) patients tried glycopyrrolate prior to SLA. SLA was used after salivary Botox, ablation, and/or surgery in 16 (9%) patients. This study investigates SLA as a potential pharmacologic agent to treat sialorrhea in children with NDD. We identify a range of prescribing patterns regarding dosing, schedule, and place in therapy, highlighting the need for further evidence to support and guide its safe and efficacious use.
PubMed: 37629280
DOI: 10.3390/jcm12165238 -
Infectious Diseases of Poverty Aug 2023Human rabies outbreak transmitted by bats continues to be a relevant public health problem not only in the Amazon region. The disease has affected one of the areas with...
BACKGROUND
Human rabies outbreak transmitted by bats continues to be a relevant public health problem not only in the Amazon region. The disease has affected one of the areas with the greatest poverty in southeastern Brazil, a region inhabited by the Maxakali indigenous people.
CASE PRESENTATION
We describe four cases of rabies among indigenous children that occurred in the indigenous village of Pradinho, municipality of Bertópolis, Minas Gerais, Brazil. Cases were notified between April and May 2022, all of whom died on average eight days after the first symptoms. All cases were observed in rural residents under 12 years of age. The probable form of exposure was through bat bites. The predominant symptoms were prostration, fever, dyspnea, sialorrhea, tachycardia, and altered level of consciousness. Half of the cases underwent late and/or incomplete post-exposure rabies prophylaxis, however, the other half underwent pre-exposure rabies prophylaxis, with only one case completing the scheme and another undergoing the adapted Milwaukee Protocol (Recife Protocol). All cases ended in death.
CONCLUSIONS
This was the first rabies outbreak among indigenous people in Brazil. Among the manifested clinical forms in the series, there was a disease atypical presentation in at least one case. We suggest active surveillance and an intercultural educational campaign to prevent new cases.
Topics: Humans; Child; Animals; Brazil; Rabies; Disease Outbreaks; Public Health; Chiroptera
PubMed: 37620861
DOI: 10.1186/s40249-023-01130-y -
Neurology(R) Neuroimmunology &... Nov 2023Anti-IgLON5 disease (IgLON5-D) may present with a bulbar-onset motor neuron disease-like phenotype, mimicking bulbar-onset amyotrophic lateral sclerosis. Recognition of...
OBJECTIVES
Anti-IgLON5 disease (IgLON5-D) may present with a bulbar-onset motor neuron disease-like phenotype, mimicking bulbar-onset amyotrophic lateral sclerosis. Recognition of their distinctive clinical and paraclinical features may help for differential diagnosis. We report 2 cases of atypical trigeminal neuropathy in bulbar-onset IgLON5-D.
METHODS
Trigeminal nerve involvement was assessed using comprehensive clinical, laboratory, electrophysiologic, and MRI workup.
RESULTS
Both patients were referred for progressive dysphagia, sialorrhea, and hoarseness. They were treated with bilevel positive airway pressure for nocturnal hypoventilation. Patient 1 complained of continuous facial burning pain with allodynia, exacerbated by mastication and prolonged speech. Patient 2 reported no facial pain. Anti-IgLON5 autoantibodies (IgLON5-Abs) were positive in serum for both patients and CSF for patient 1. Cerebral MRI revealed bilateral T2 fluid-attenuated inversion recovery (FLAIR) hyperintensity and enlargement of trigeminal nerves without gadolinium enhancement in both patients. Needle myography showed fasciculations in masseter muscles. Blink-reflex study confirmed bilateral trigeminal neuropathy only in patient 2. Cortical laser-evoked potentials showed a bilateral small-fiber dysfunction in the trigeminal nerve ophthalmic branch in patient 1.
DISCUSSION
In case of progressive atypical bulbar symptoms, the presence of a trigeminal neuropathy or trigeminal nerve abnormalities on MRI should encourage the testing of IgLON5-Abs in serum and CSF.
Topics: Humans; Contrast Media; Gadolinium; Trigeminal Nerve; Trigeminal Nerve Diseases; Amyotrophic Lateral Sclerosis
PubMed: 37607754
DOI: 10.1212/NXI.0000000000200153 -
Cureus Jul 2023A 42-year-old woman presented with drooling, slurred speech, inability to walk and talk, and a recent positive COVID-19 test. She had two prior hospital admissions...
A 42-year-old woman presented with drooling, slurred speech, inability to walk and talk, and a recent positive COVID-19 test. She had two prior hospital admissions within the past week for similar symptoms with inconclusive evaluation. MRI of the brain demonstrated multifocal white matter hyperintense lesions on fluid-attenuated inversion recovery (FLAIR)/diffusion with variable enhancement. These imaging findings have been described in recent literature and are associated with inflammatory demyelinating disease, such as acute disseminated encephalomyelitis. The patient subsequently underwent a brain biopsy with a final diagnosis of inflammatory demyelinating lesion. To our knowledge, this is the first radiologic-pathologic correlation of COVID-19-associated acute disseminated encephalomyelitis.
PubMed: 37605696
DOI: 10.7759/cureus.42275 -
Digestive and Liver Disease : Official... Feb 2024Foreign body ingestion (FBI) in children requires early identification to prevent adverse outcomes and may necessitate endoscopic or surgical intervention. This study...
BACKGROUND AND AIMS
Foreign body ingestion (FBI) in children requires early identification to prevent adverse outcomes and may necessitate endoscopic or surgical intervention. This study aims to develop a nomogram that identifies children who require urgent surgical or endoscopic intervention by using the patient's medical history and clinical parameters collected at admission.
METHODS
This study is a retrospective review (01/2015-12/2020) of a multicenter case series of children admitted for FBI. Data from 5864 records from 24 hospitals in Italy were analyzed. Logistic regression models were used to establish the probability of requiring surgical or endoscopic intervention based on patient history and clinical characteristics. The nomogram representing the results from the multivariable model was reported to examine the propensity for surgery/endoscopy.
RESULTS
The study identified a significant association between intervention and various factors, including type of foreign body (blunt: reference category, disk battery (odds ratio OR:4.89), food bolus (OR:1.88), magnets (OR:2.61), sharp-pointed (OR:1.65), unknown (OR:1.02)), pre-existing diseases or conditions (OR 3.42), drooling (OR 10.91), dysphagia (OR 5.58), vomiting (OR 3.30), retrosternal pain (OR 5.59), abdominal pain (OR 1.58), hematemesis (OR 2.82), food refusal/poor feeding (OR 2.99), and unexplained crying (OR 2.01). The multivariable regression model showed good calibration and discrimination ability, with an area under the ROC curve of 0.77.
CONCLUSIONS
This study developed the first nomogram to predict the probability of the need for surgical or endoscopic intervention in children with FBI, based on the information collected at admission. The nomogram will aid clinicians in identifying children who require early intervention to prevent adverse outcomes.
Topics: Child; Humans; Nomograms; Endoscopy; Digestive System; Foreign Bodies; Eating; Retrospective Studies
PubMed: 37586909
DOI: 10.1016/j.dld.2023.07.017 -
The American Journal of Case Reports Aug 2023BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal...
BACKGROUND A first psychotic episode requires the exclusion of toxic-metabolic, inflammatory, infective, and neoplastic causes. Wilson disease is a rare, autosomal recessive disorder of copper metabolism and can present with neuropsychiatric symptoms secondary to copper accumulation in the brain. CASE REPORT We describe the case of a 48-year-old man with parkinsonism on a background of longstanding schizophrenia and psychotic depression in the setting of previously undiagnosed Wilson disease. The common history of neuropsychiatric disturbance and neuroleptic use complicated the assessment of parkinsonism. However, close attention to the temporal appearance of symptoms and signs differentiated his case from drug-induced parkinsonism, which commonly develops hours to weeks after commencement or uptitration of antipsychotic medication. The early features of sialorrhea and dysarthria were also atypical for idiopathic Parkinson disease. The diagnosis was confirmed by serum copper testing and supported by Kayser-Fleischer rings on bedside ophthalmological examination. Magnetic resonance imaging (MRI) of the brain demonstrated copper accumulation in the basal ganglia and pons, contributing to the characteristic neurological manifestations of an akinetic-rigid syndrome with dysarthria. CONCLUSIONS Serum copper testing is easily obtained and should be considered as part of the first-line investigations for new neuropsychiatric disturbances. Although rare, Wilson disease, if diagnosed early, is a potentially treatable and reversible cause of psychosis. With advanced disease, extrapyramidal findings on examination correlate with MRI brain changes, aiding the clinical assessment in differentiating the disease from drug-induced parkinsonism.
Topics: Male; Humans; Middle Aged; Hepatolenticular Degeneration; Copper; Dysarthria; Psychotic Disorders; Parkinsonian Disorders
PubMed: 37583127
DOI: 10.12659/AJCR.940561 -
Journal of Pediatric Rehabilitation... 2024Infants can have muscle hypertonia due to cerebral palsy, muscle strength imbalances due to brachial plexus palsy, refractory clubfoot, and torticollis. These muscle...
PURPOSE
Infants can have muscle hypertonia due to cerebral palsy, muscle strength imbalances due to brachial plexus palsy, refractory clubfoot, and torticollis. These muscle problems can cause significant development impairments. A child with severe sialorrhea and dysphagia from leukodystrophy can aspirate, causing respiratory problems. Botulinum toxin (BoNT) injections can improve these conditions but may lead to adverse effects from the toxin spreading to non-targeted muscles, potentially impacting breathing, swallowing, and overall strength. This is particularly concerning in infants. This study assessed the safety of BoNT injections in children less than one year of age.
METHODS
This was a retrospective cohort study.
RESULTS
Forty-seven patients (22 male, 25 female) received BoNT injections before one year of age (three to 12 months). Thirty-seven received one round of injections and 10 were injected on multiple occasions. Forty-five received onabotulinumtoxinA (15-100 units [U], 1.9-15.2 U/kg), one received abobotulinumtoxinA (70 U, 9.0 U/kg), and one received incobotulinumtoxinA (25 U, 3.5 U/kg). Lower extremities were treated in 15 patients, upper extremities in 38, the sternocleidomastoid in two, and the salivary glands in one. Forty-five patients had no reported complications. One experienced transient fever, vomiting, and diarrhea. The parent of another reported subjective weakness in one muscle.
CONCLUSION
BoNT injections in children less than one year of age appear to be safe.
Topics: Child; Infant; Humans; Male; Female; Neuromuscular Agents; Retrospective Studies; Muscle Spasticity; Treatment Outcome; Botulinum Toxins, Type A; Upper Extremity; Cerebral Palsy
PubMed: 37574745
DOI: 10.3233/PRM-220003 -
European Journal of Case Reports in... 2023Nerium oleander is a plant containing cardiac glycosides, and intoxication with its leaves is a medical emergency. We report the case of a 73-year-old man who took a...
UNLABELLED
Nerium oleander is a plant containing cardiac glycosides, and intoxication with its leaves is a medical emergency. We report the case of a 73-year-old man who took a decoction of oleander leaves for a reckless purpose. Upon arrival in the emergency room, he presented an altered state of consciousness, drooling and vomiting. He was bradycardic with intermittent third-degree atrioventricular block and typical downsloping ST-segment depression related to glycosides toxicity. Despite initial treatment with atropine, isoprenaline and repeated bolus of digoxin-specific antibody (Fab) fragments, symptoms were persistent 12 hours after admission. Suspecting that the patient not only drank the decoction but also ingested the leaves and had slow gastric emptying, we performed gastric lavage without benefit. We subsequently performed a gastroscopy that showed an oleander phytobezoar, and its removal permitted a rapid clinical improvement. Treatment with digoxin-specific antibodies for intoxication is well described and dosage should be adapted to the plasmatic level. Such an examination is useless in oleander intoxication because it does not represent the real quantity of toxin. The dosage of antibodies is empiric and should be guided by the clinical severity. In such intoxication, the presence of a phytobezoar from oleander leaves cannot be excluded so we believe that a gastroscopy for its mechanical removal should always be considered to avoid persistent release of toxin.
LEARNING POINTS
Ingestion of any part of the oleander plant can result in a severe cardioactive glycoside intoxication with potentially fatal arrhythmia and should be considered a medical emergency.Treatment consists of supportive care, correction of arrhythmias and electrolyte imbalance, and digoxin-specific antibody (Fab) fragments administration.Gastroscopy for mechanical removal of a phytobezoar responsible of persistent toxin release should be always considered.
PubMed: 37554479
DOI: 10.12890/2023_003978