Case Reports in Neurology最新文献

Introduction: Biotin-thiamine responsive basal ganglia disease (BTBGD) is a rare autosomal recessive neurometabolic disorder characterized by diverse and variable phenotypic features, which can make diagnosis challenging. However, prompt treatment with thiamine and biotin can effectively manage the condition. Diagnosis relies on the identification of biallelic pathogenic variants in the SLC19A3 gene. This case report describes two novel variants of uncertain significance in the SLC19A3 gene, which may be correlated with the phenotypic manifestations of BTBGD.

Case presentation: Our case is a 7-month-old female infant who presented with a 3-week history of irritability, altered behavior, and refusal of newly introduced solid foods. Symptoms started with an upper respiratory tract infection, followed by lethargy, floppiness, and abnormal movements. The patient was admitted to the pediatric ward with a broad differential diagnosis. Extensive laboratory evaluations revealed lactic acidosis. MRI brain showed symmetric restricted diffusion affecting the bilateral basal ganglia, thalami, and cortical regions. Whole genome sequencing identified biallelic variants of the SLC19A3: a c.1364T>G p.Met455Arg missense variant in the maternal allele and a 2.3 kb deletion of intron 3 of the paternal allele. Both variants were identified as variants of uncertain significance. However, given the clinical picture, MRI brain findings, resolution of symptoms with empiric biotin and thiamine supplementation, and biallelic SLC19A3 variants of unknown significance, the patient most likely suffers from BTBGD. Patient continues to show sustained developmental progress on biotin and thiamine supplementation.

Conclusion: This case highlights the fact that genetic testing remains a vital but improvable tool for the diagnosis of BTBGD. As of yet, genetic testing and diagnosis of BTBGD continues to be limited by the knowledge of which SLC19A3 variants are established to be pathogenic variants. Thus, further research is required to study other SCL19A3 variants of unknown significance to further improve genetic testing and diagnosis of BTBGD in the future.

Introduction: Neurological complication due to coronavirus disease 2019 (COVID-19) is accumulating and compressive myelopathy due to spinal subdural hematoma (SSDH) is rarely reported in association with COVID-19.

Case presentation: A 55-year-old male was presented with sudden onset of areflexic paraparesis, urinary retention, loss of all sensations below twelve spinal thoracic segments, and severe back pain. This condition necessitated an immediate order of a spinal cord MRI followed by an urgent surgery, which was crucial to save the spinal cord. COVID-19 was confirmed by a positive reverse-transcription-polymerase chain reaction and spinal MRI showed SSDH.

Conclusion: For a patient who presents with acute onset of severe back pain and myelopathy without a history of trauma, SSDH should be suspected. Additionally, coagulopathy associated with COVID-19 infection should increase the suspicion of SSDH which needs immediate surgical treatment to save the spinal cord.

Introduction: Diabetic striatopathy, or nonketotic hyperglycemic hemichorea-hemiballismus syndrome, is a rare movement disorder linked to poorly controlled diabetes mellitus. It predominantly affects older women with type 2 diabetes mellitus and presents with characteristic basal ganglia abnormalities on computed tomography (CT) and magnetic resonance imaging (MRI). Even rarer is the presentation in a young patient, which may pose diagnostic and management challenges.

Case presentation: We report a 17-year-old male with poorly controlled type 1 diabetes mellitus presenting with left-sided hemichorea-hemiballismus of acute onset associated with hyperglycemia without ketoacidosis. Brain imaging revealed increased attenuation in the right caudate and putamen on CT and hyperintensity on T1-weighted MRI, consistent with diabetic striatopathy. The abnormal movements abated after 1 month through dietary counseling, increased insulin dosage, and anti-chorea therapy.

Conclusion: Diabetic striatopathy may occur in young patients with type 1 diabetes mellitus. In resource-limited settings, its management can be challenging. There is a need for increased awareness among physicians of this potentially reversible condition, especially when seeing atypical patient populations. Strict glycemic control is an essential part of treatment.

Introduction: Botulism is a rare but potentially life-threatening syndrome caused by botulinum neurotoxin. The classic presentation of botulism is the acute onset of bilateral cranial neuropathies associated with symmetric descending weakness. The antitoxin is the main therapeutic option for botulism, in addition to supportive care with intubation and mechanical ventilation when necessary. The outcome is usually favorable, with a slow but full neurological recovery. This case presents a difficult diagnosis of the sporadic form of adult intestinal toxemia, with a delayed diagnosis.

Case presentation: We report a 64-year-old patient who presented in a confused state with weakness in the limbs, bilateral ptosis, and dysarthria. Because of disease progression with respiratory compromise, the patient was transferred to the intensive care unit (ICU) and intubated. The diagnosis of botulism was eventually confirmed in the stool 46 days after presentation. By the end of follow-up, the patient still received rehabilitation. The outcome was good, except for the concomitant neurodegenerative disorder with the need for institutionalization at a residential care center.

Conclusion: This case report illustrates the difficulties in diagnosing a patient with botulism in the ICU, especially if associated with comorbidities. Delayed diagnosis and misdiagnosis are common because of the rarity of the disease and overlapping signs and symptoms with other neurological diseases. Increasing the awareness of this disease is important to prevent mortality and morbidity.

Introduction: Herpes simplex virus type 1 (HSV-1) is the leading cause of sporadic fatal encephalitis, typically presenting with temporal lobe abnormalities. It usually manifests as fever, headache, seizure, altered sensorium, and focal neurological deficit. Hyperphagia as a sole complication of HSV-1 encephalitis is a rare presentation.

Case presentation: We report a 25-year-old woman with a 10-day history of fever, headache, and vomiting, progressing to confusion, visual hallucinations, and drowsiness. She had a history of meningoencephalitis at age 8 and well-controlled focal seizures. Upon admission, magnetic resonance imaging showed T2/fluid-attenuated inversion recovery hyperintensities in both temporal lobes with diffusion restriction. Electroencephalography indicated generalized slowing and cerebrospinal fluid (CSF) analysis revealed lymphocytic pleocytosis with elevated protein levels. Viral encephalitis was suspected, and intravenous acyclovir was initiated. CSF polymerase chain reaction (PCR) confirmed HSV-1. With treatment, she gradually improved but developed hyperphagia during hospital stay. Hyperphagia, a rare complication of herpes simplex virus (HSV) encephalitis, is a part of Kluver-Bucy syndrome typically associated with other cognitive dysfunctions. Despite early treatment, voracious appetite remained partially, emphasizing the need for rapid diagnosis and treatment to prevent severe outcomes.

Conclusion: The case highlights that acute onset hyperphagia can be an isolated complication of HSV encephalitis, requiring tailored therapeutic strategies. Follow-up showed significant weight gain with partial improvement in hyperphagia, underscoring the challenges in managing this condition.

Introduction: Capnocytophaga canimorsus is a Gram-negative bacterium found in the oral flora of dogs and cats, transmitted to humans through bites, licks, or scratches. Infections can lead to severe manifestations, including meningitis, particularly in immunocompromised individuals.

Case presentation: A 46-year-old immunocompetent man presented with somnolence, headache, and fever after being licked by his dog. Neurological examination revealed signs of meningeal irritation, and cerebrospinal fluid analysis showed an elevated white cell count and protein levels consistent with bacterial meningitis. Treatment followed Dutch guidelines with amoxicillin, ceftriaxone, and dexamethasone, resulting in rapid clinical improvement. Microbiological confirmation of C. canimorsus followed later. The patient was treated with antibiotics for the duration of 1 week and remained symptom-free after being discharged.

Conclusion: C. canimorsus meningitis, although rare, poses diagnostic challenges due to its variable presentation and slow growth in culture. Empirical therapy guided by susceptibility testing contributes to favorable outcomes. This case underscores the importance of considering a C. canimorsus infection in patients with animal exposure and of taking diagnostic findings, precedent, and clinical response into account when determining the treatment duration.

Introduction: Periodic paralysis is a condition that causes recurrent episodes of flaccid paralysis, and it can be primary or secondary. Hypokalemic periodic paralysis is the most common type of primary periodic paralysis, and it is inherited through autosomal dominant gene transmission. Males are affected three times more often than females, and the paralysis attacks usually occur at night after a period of vigorous exercise. It is crucial to exclude other diagnostic entities based on the nature of presentation, physical examination, and paraclinical studies. Thyrotoxic periodic paralysis is more prevalent in Asian or Hispanic males with thyrotoxicosis, where up to 10% of thyrotoxic patients may experience periodic paralysis.

Case presentations: Here, we present 6 cases of patients who came to our care with varying degrees of muscle weakness, each showing interesting and diverse laboratory results.

Conclusion: In patient assessment, it is crucial to consider social and family history. Even without this information, awareness of potential diagnoses is vital. The cause should be carefully considered for possible simple treatments. Failing to recognize and address this condition promptly could lead to severe outcomes. Timely identification and intervention are essential for effective disease management and patient welfare.

Introduction: This is a case of a 32-year-old woman who developed postpartum depression (PPD). She became anxious and depressive about caring for her child, and the Edinburgh Postnatal Depression Scale (EPDS) test showed a score of 9 at 2 weeks after delivery, and at 7 months postpartum, she presented with major melancholic depression followed by mild cognitive decline without any neurological symptoms except cluttering speech.

Case presentation: Cerebral magnetic resonance imaging showed confluent fluid-attenuated inversion recovery hyperintensities in the periventricular and frontal deep white matter, with multiple spotty calcifications in the frontal white matter by cerebral CT. Genetic testing revealed a mutation in the colony-stimulating factor 1 receptor (CSF1R).

Conclusion: This case report is consistent with evidence that PPD may have organic causes in some cases, including CSF1R mutations. Atypical findings such as mild cognitive decline combined with PPD in psychiatric interview may justify brain imaging to avoid misdiagnosis, since CSF1R-related leukoencephalopathy is probably an under-recognized disease in medical psychiatry. Further investigations are needed to clarify a pathophysiological correlation between CSF1R signaling abnormality and PPD as well as major depression.

Introduction: Spinal teratomas are rare, accounting for nearly 0.2-0.5% of all spinal tumors and 2% of all teratomas. Teratomas at the conus medullaris location do not inherently lead to epilepsy. However, potential epileptic seizures are caused when teratoma ruptures and the chemical stimulation of teratoma components enter the dural sac.

Case presentation: A 31-year-old Asian male patient suffering from epileptic onset and poor antiepileptic treatment was demonstrated. The spinal imaging examination was performed, and the patient suffered a space-occupying lesion within the conus medullaris related to spinal deformity, spinal embolism, etc. The autoimmune encephalitis spectrum revealed mGluR5 antibody IgG (+) 1:10 response. The patient stabilized after treatment with hormones and human immunoglobulin. Some hair and lipid droplets could be observed in the dural sac intraoperatively, and more hair and lipid-like material were present in the spinal cord. Postoperative pathology established the diagnosis as a conus medullaris teratoma in adults. Epileptic seizures stopped after surgery, and no additional seizures were reported during the 33-month follow-up period.

Conclusions: Conus medullaris teratoma rupture in adults rarely causes epileptic seizures. For spinal deformity patients with unexplained epileptic symptoms, spinal MRI can be helpful in early diagnosis, and more appropriate treatment improves disease prognosis.

Introduction: Orthostatic hypotension is common in people with Parkinson's disease (PD) due to autonomic dysfunction and medication use and can have a significant negative impact on quality of life. Pharmacological treatment is often complicated due to complex blood pressure regulation problems. This case report presents a patient whose symptoms of orthostatic intolerance were successfully treated with the non-pharmacological method of head-up tilt sleeping (HUTS).

Case presentation: A 69-year-old man with PD and prominent autonomic failure received recommendation from the neurologist to use HUTS to battle orthostatic intolerance, of which complaints were worst in the early morning. The patient noted a marked improvement of the orthostatic intolerance after a period in which he slowly step-by-step inclined the bed to an angle just over 10°. When ceasing HUTS for a brief period, complaints of orthostatic intolerance immediately returned and the patient returned to tilted sleeping right away. After a follow-up of 3 months, the patient did not report orthostatic intolerance during a standing test.

Conclusion: This case illuminates that, despite difficulties intrinsic to this method, whole-body HUTS can ameliorate orthostatic intolerance and improve the daily life of people with advanced movement disorders.