Enoxaparin-induced Wunderlich syndrome in a young patient with anti-GAD 65-associated opsoclonus and limbic encephalitis: a rare complication in a rare disease

2021 ◽  
Vol 14 (10) ◽  
pp. e244916
Author(s):  
Saranya B Gomathy ◽  
Animesh Das ◽  
Awadh Kishor Pandit ◽  
Achal Kumar Srivastava
Keyword(s):  
Rare Disease ◽  
Young Patient ◽  
Clinical Condition ◽  
Limbic Encephalitis ◽  
Rare Complication ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Rare Condition ◽  
Gad 65 ◽  
Good Improvement

Wunderlich syndrome is a rare condition characterised by acute spontaneous non-traumatic renal haemorrhage into the subcapsular and perirenal spaces. Our case of anti-GAD65-associated autoimmune encephalitis (AE), aged 30 years, developed this complication following use of enoxaparin and was managed by selective glue embolisation of subsegmental branches of right renal cortical arteries. Our case had opsoclonus as one of the clinical manifestations, which has till now been described in only two patients of this AE. This patient received all forms of induction therapies (steroids, plasmapheresis, intravenous immunoglobulin and rituximab) following which she had good improvement in her clinical condition. The good response to immunotherapy is also a point of discussion as this has been rarely associated with anti-GAD65 AE.

scholarly journals Atypical Association of Autoimmune Limbic Encephalitis with Anti-NMDA Receptor Antibodies in a Young Male Patient: Clinical, Imaging, and Neuropsychological Characteristics

2021 ◽  
pp. 541-548
Author(s):  
José Alberto Choreño-Parra ◽  
Tania de la Rosa-Arredondo ◽  
André Garibay-Gracián ◽  
Ingrid Montes de Oca-Vargas ◽  
Deyanira Capi-Casillas ◽  
...  
Keyword(s):  
Nmda Receptor ◽  
Limbic Encephalitis ◽  
Psychiatric Symptoms ◽  
Brain Mri ◽  
Clinical Manifestations ◽  
Memory Loss ◽  
Autoimmune Encephalitis ◽  
Young Male ◽  
Autoimmune Limbic Encephalitis ◽  
Receptor Antibodies

The spectrum of autoimmune encephalitis (AE) encompasses several entities characterized by a variable frequency of psychiatric symptoms, cognitive dysfunction, focal deficits, and seizures. Although patients with AE can be categorized in specific syndromes, overlapping manifestations are also common. Furthermore, atypical correlations between clinical phenotypes and autoantibody profiles could occur in rare cases. Here, we report the rare case of a young adult man attending due to new-onset seizures and a history of memory loss, autonomic disturbances, headache, behavioral changes, and visual and olfactory hallucinations. The patient was subjected to a complete diagnostic approach that included a comprehensive laboratory workup, neuropsychological testing, electroencephalogram, cerebrospinal fluid (CSF) analysis, brain MRI, and positron emission tomography/computed tomography scan that revealed a functional and structural compromise of the bilateral medial temporal lobes. Together with the clinical manifestations of the patient, these findings were compatible with the diagnosis of autoimmune limbic encephalitis (ALE). Strikingly, further analysis of the CSF showed autoantibodies against the N-methyl-D-aspartate (NMDA) receptor. We found very few cases of the co-occurrence of anti-NMDA receptor antibodies and nonparaneoplastic ALE in the literature, especially in male patients. Our report exemplifies the complicated differential diagnosis of ALE and adds clinical information of the association with anti-NMDA receptor antibodies.

scholarly journals Clinical Character of CASPR2 Autoimmune Encephalitis: A Multiple Center Retrospective Study

2021 ◽  
Vol 12 ◽  
Author(s):  
Xiaoxiao Qin ◽  
Huajun Yang ◽  
Fei Zhu ◽  
Qun Wang ◽  
Wei Shan
Keyword(s):  
Limbic Encephalitis ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Common Symptom ◽  
Course Of Disease ◽  
Imaging Results ◽  
Pet Ct ◽  
Magnetic Resonance Imaging Mri ◽  
Long Term Prognosis ◽  
Cognitive Disturbance

ObjectiveTo examine the clinical characteristics of autoimmune encephalitis associated with the contactin-associated protein-2 (CASPR2) antibody.Materials and MethodsMedical records of all patients diagnosed with CASPR2 antibody-associated encephalitis were retrospectively analysed. Data regarding demographic features, neurological symptoms and signs, laboratory tests, imaging results, treatments, and prognosis were collected.ResultsA total of 25 patients aged from 3 to 79 years old were enrolled in this study, with a median age of 43. Eight of 25 (32%) were female, and 17 of 25 (68%) were male. The median age of symptom onset was 42 years old with the course of disease from onset to hospital admission ranging from 2 days to 6 months (median was 17 days). Six patients (6/25) had fever as an onset symptom. During the course of disease, cognitive disturbance was the most common symptom, which was observed in 17 patients (17/25) in total. Eight patients (8/25) met the criteria for limbic encephalitis. Epileptic seizure occurred in six of these eight patients. Four patients (4/25) were diagnosed as Morvan syndrome. All patients were positive for anti-CASPR2 antibody in the serum (1:10–1:300). In six patients, antibodies were detected both in the blood and CSF (1:32–1:100). White blood cell (WBC) counts in the CSF were elevated in eight patients (8/25). The concentration of proteins in CSF increased in 10 patients (ranging from 480 to 1,337.6 mg/dl), decreased in seven patients (ranging from 23.2 to 130.5 mg/dl) and remained at a normal range in the other eight patients (ranging from 150 to 450 mg/dl). Abnormal electroencephalogram (EEG) activities included slow background activity and epileptic patterns. Abnormal signals in the bilateral hippocampus were detected by magnetic resonance imaging (MRI) in three patients presenting cognitive disturbance. In one patient who had limbic encephalitis, increased metabolism of bilateral basal ganglia and the mesial temporal lobe was revealed by PET-CT. Eleven of 15 patients receiving immunotherapy experienced varying degrees of improvement. Relapse occurred in four of 25 patients (4/25) after 2 months.ConclusionCASPR-antibody-mediated autoimmune encephalitis is characterized by diverse clinical manifestations. The most prominent conclusion revealed by this retrospective analysis is the involvement of both central and peripheral nerve systems, as well as a lower relapse rate, a good response to immunotherapy, and favorable short-term prognosis after treatment was also demonstrated. Besides, additional work is necessary to evaluate the long-term prognosis.

scholarly journals Black Femoral Head Due to Ochronotic Arthropathy: A Case Report

2021 ◽  
Author(s):  
Mahlisha Kazemi ◽  
Hamid Rabie ◽  
Mohammadhasan Sharafi
Keyword(s):  
Case Report ◽  
Femoral Head ◽  
Therapeutic Option ◽  
Rare Complication ◽  
Clinical Manifestations ◽  
Rare Condition ◽  
Ochronotic Arthropathy ◽  
Orthopedic Surgeons ◽  
Surgical Treatments ◽  
Pigment Accumulation

Background: Ochronotic arthropathy is a rare complication in patients with alkaptonuria (AKU) that occurs as a result of ochronotic pigment accumulation in the joints. Case Report: This case report presents a 54-year-old patient with severe degenerative arthritis who underwent total hip arthroplasty on both sides within an interval of three years. The diagnosis was made by observation of a dark capsule and femoral head during the second surgery. The surgical treatments significantly reduced the pain and improved the range of motion (ROM). Conclusion: Orthopedic surgeons must be vigilant about clinical manifestations of this rare condition, before and during the surgery. Arthroplasty is a favourable therapeutic option in patients suffering from ochronotic arthropathy.

scholarly journals Asymmetric optic disc edema in a young patient with POEMS: A rare presentation of a rare disease

2021 ◽  
Vol 22 ◽  
pp. 101064
Author(s):  
Hana Mahallati ◽  
James Kirkland Roberts ◽  
Amer Assal ◽  
Divaya Bhutani ◽  
David C. Park ◽  
...  
Keyword(s):  
Rare Disease ◽  
Young Patient ◽  
Optic Disc ◽  
Optic Disc Edema ◽  
Rare Presentation ◽  
Disc Edema

Intraorbital Abscess: A Rare Cause of Orbit Compression

FACE ◽  
2021 ◽  
pp. 273250162110050
Author(s):  
Samuel Ruiz ◽  
Rizal Lim
Keyword(s):  
Pediatric Population ◽  
Rare Complication ◽  
Disease Process ◽  
Rare Condition ◽  
External Drainage ◽  
Direct Extension ◽  
Life Threatening ◽  
History Of ◽  
High Index Of Suspicion ◽  
Prompt Diagnosis

Introduction: Intraorbital abscess is a rare complication of rhinosinusitis that affects most commonly the pediatric population. It is thought to be caused by direct extension or venous spread of infections from contiguous sites and can lead to life-threatening complications, like permanent visual loss and cerebral abscesses. Objectives: Intraorbital abscess is a rare condition that requires prompt diagnosis and treatment to avoid serious complications. Our objectives are to provide an overview of this rare disease process and its management including our successful treatment experience. Case Description: We present a 2 case report of a 13-year-old pediatric male and a 66-year-old male with history of chronic sinusitis who presented with a right intraorbital abscess successfully treated with external drainage with decompression of the orbit. Conclusion: When intraorbital abscess is encountered, a high index of suspicion is needed to allow prompt and accurate diagnosis for this infrequent condition. Timely surgical drainage of the abscess is needed to prevent the development of fatal complications.

scholarly journals Autoimmune encephalitis in a South Asian population

BMC Neurology ◽  
2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Nilanka Wickramasinghe ◽  
Dhanushka Dasanayake ◽  
Neelika Malavige ◽  
Rajiva de Silva ◽  
Thashi Chang
Keyword(s):  
Sri Lanka ◽  
Psychiatric Symptoms ◽  
South Asians ◽  
Laboratory Data ◽  
Clinical Manifestations ◽  
Autoimmune Encephalitis ◽  
Asian Population ◽  
South Asian Population ◽  
Clinical Presentations

Abstract Background Autoimmune encephalitis (AE) is now considered a main, potentially curable cause of encephalitis, but remains conspicuously underreported from South Asia. We studied the clinical characteristics in relation to their antibody status and outcomes of patients presenting with AE in Sri Lanka. Methods Patients admitting to government hospitals who were clinically suspected of AE by an on-site neurologist were prospectively recruited over a period of 12 months. Sera and cerebrospinal fluid were tested for NMDAR, AMPAR1, AMPAR2, LGI1, CASPR2, GABARB1/B2 antibodies (Ab) using commercial cell-based assays. Demographic, clinical and laboratory data were compiled into an investigator-administered proforma. Patients were reviewed at 1 year follow up either in person or via telephone. Results One-hundred and forty-two patients from 21 of 25 districts in Sri Lanka (median age = 20.5 years; range 1–86 years; females = 61.3%) were recruited. Of them, 65 (45.8%; median age = 19 years; range 1–86 years; females = 64.6%) fulfilled diagnostic criteria for probable NMDAR-antibody encephalitis (NMDARE) and 6 (4.2%; median age = 44 years; range 28–71 years; females = 83.3%) limbic encephalitis (LE). Abnormal behaviour (95.3%), seizures (81.5%) and movement disorders (69.2%) were the most frequent clinical manifestations of probable NMDARE. NMDAR-antibodies were detectable in 29 (44.6%) and not detectable in 36 in CSF of probable-NMDARE patients. Abnormal EEG was more frequent (p = 0.003) while a worse outcome (OR = 2.78; 95% CI = 0.88–9.09) and deaths (OR = 2.38; 95% CI = 0.67–8.33) were more likely in antibody-negative than antibody-positive probable-NMDARE. Most patients with LE had amnesia (50%) and/or confusion (100%) with agitation (83.3%) and seizures (100%) but none had detectable antibodies to any of the antigens tested. Conclusions NMDARE is the commonest type of AE among South Asians as is the case worldwide. Clinical presentations of NMDARAb-positive and NMDARAb-negative AE patients do not significantly differ but EEG may be a useful marker of an autoimmune basis for psychiatric symptoms.

Cooccurrence of Two Different Genetic Diseases: A Case of Valproic Acid Hepatotoxicity in Nicolaides–Baraitser Syndrome (SMARCA2 Mutation)—Due to a POLG1-Related Effect?

2019 ◽  
Vol 51 (01) ◽  
pp. 049-052
Author(s):  
Benedikt Hofmeister ◽  
Celina von Stülpnagel ◽  
Steffen Berweck ◽  
Angela Abicht ◽  
Gerhard Kluger ◽  
...  
Keyword(s):  
Valproic Acid ◽  
Literature Review ◽  
Rare Disease ◽  
Clinical Features ◽  
Rare Diseases ◽  
Rare Complication ◽  
Genetic Diseases ◽  
Related Effect ◽  
Higher Sensitivity ◽  
Polg1 Mutation

AbstractNicolaides–Baraitser syndrome (NCBRS) is a rare disease caused by a mutation in the SMARCA2 gene. Clinical features include craniofacial dysmorphia and abnormalities of the limbs, as well as intellectual disorder and often epilepsy. Hepatotoxicity is a rare complication of the therapy with valproic acid (VPA) and a mutation of the polymerase γ (POLG) might lead to a higher sensitivity for liver hepatotoxicity. We present a patient with the coincidence of two rare diseases, the NCBRS and additionally a POLG1 mutation in combination with a liver hepatotoxicity. The co-occurrence in children for two different genetic diseases is discussed with the help of literature review.

scholarly journals P686 Right atrial, right ventricular and pulmonary cement embolism: a rare complication of percutaneous vertebroplasty

2020 ◽  
Vol 21 (Supplement_1) ◽  
Author(s):  
S Akhunova ◽  
R Khayrullin ◽  
N Stekolshchikova ◽  
M Samigullin ◽  
V Padiryakov
Keyword(s):  
Pulmonary Artery ◽  
Right Ventricle ◽  
Right Atrium ◽  
Percutaneous Vertebroplasty ◽  
Rare Complication ◽  
Clinical Manifestations ◽  
Stable Condition ◽  
Right Atrial ◽  
Cement Embolism ◽  
The Right

Abstract A 68-year-old man was admitted to the hospital with complaints of pain in the lumbar spine. He had L5 disc herniation, Spinal stenosis of the L5 root canal - S1 on the right in the past medical history. Percutaneous vertebroplasty at the level of L3 and Th8 vertebral bodies was performed six months ago due to painful vertebral hemangioma. The man is suffering from arterial hypertension, receives antihypertensive therapy. During routine transthoracic echocardiography, a hyperechoic structure with a size of 9.5 x 0.9 cm was found in the right atrium and right ventricle. Chest computed tomography with contrast enhancement revealed signs of bone cement in the right atrium and right ventricle, in the right upper lobe artery, in the branches of the upper lobe artery, in the paravertebral venous plexuses. Considering the duration of the disease, the stable condition, the absence of clinical manifestations and disorders of intracardiac hemodynamics, it was decided to refrain from surgical treatment. Antiplatelet therapy and dynamic observation were recommended. Conclusion Percutaneous vertebroplasty is a modern minimally invasive surgical procedure for the treatment of degenerative-dystrophic diseases of the spine. However, the cement can penetrate into the paravertebral veins and migrate to the right chambers of the heart and the pulmonary artery. This clinical case demonstrates asymptomatic cement embolism of the right chambers of the heart and pulmonary artery after percutaneous vertebroplasty, detected incidentally during routine echocardiography. Abstract P686 Figure.

scholarly journals Refractory pleural effusion as a rare complication of pulmonary vascular stenosis induced by fibrosing mediastinitis: a case report and literature review

2021 ◽  
Vol 49 (5) ◽  
pp. 030006052110100
Author(s):  
Suqiao Yang ◽  
Jianfeng Wang ◽  
Jifeng Li ◽  
Kewu Huang ◽  
Yuanhua Yang
Keyword(s):  
Pleural Effusion ◽  
Rare Complication ◽  
Clinical Manifestations ◽  
Pulmonary Vein Stenosis ◽  
Pulmonary Artery Stenosis ◽  
Heart Catheterization ◽  
Tissue Mass ◽  
Fibrosing Mediastinitis ◽  
Extrinsic Compression ◽  
Left Pleural Effusion

Fibrosing mediastinitis (FM) is a progressive, life-threatening disease characterized by extrinsic compression of mediastinal bronchovascular structures, and the clinical manifestations largely depend upon the affected structures. Pleural effusion is rarely reported in patients with FM. We herein describe a 70-year-old man who presented with recurrent breathlessness and refractory left pleural effusion. He was misdiagnosed with and treated for tuberculous pleurisy for several months. Thoracentesis revealed a transudative pleural effusion, and a contrast-enhanced computed tomography scan of the thorax showed an extensive mediastinal soft tissue mass consistent with FM. Pulmonary angiography demonstrated pulmonary artery stenosis on the right side and pulmonary vein stenosis mainly on the left side. After measurement of the pulmonary arterial pressure by right heart catheterization, the patient was diagnosed with pulmonary hypertension associated with FM. He underwent balloon angioplasty and stent implantation of the stenosed pulmonary vessels, which led to long-term improvement in his breathlessness and pleural effusion. Our systematic review of the literature highlights that pleural effusion can be an uncommon complication of FM and requires careful etiological differentiation.

scholarly journals Post-operative compressive pneumocephalus: A rare complication of lumbar spinal drainage

2020 ◽  
Vol 10 (4) ◽  
pp. 127-128
Author(s):  
F Lakhdar ◽  
M Benzagmout ◽  
K Chakour ◽  
ME Chaoui
Keyword(s):  
Oxygen Therapy ◽  
Rare Complication ◽  
Rare Condition ◽  
Bed Rest ◽  
Fluid Replacement ◽  
Primary Surgery ◽  
Csf Leakage ◽  
Lumbar Spinal ◽  
Possible Cause ◽  
Inspired Oxygen

Compressive pneumocephalus is a rare condition, most often secondary to head trauma or surgery. We report post-operativecompressive pneumocephalus in a patient who underwent primary surgery for anterior clinoidmeningioma complicated by CSF leakage treated by lumbar spinal drainage. CT scanclearly demonstrates a compressive pneumocephaluswith the sign of the Mount Fuji. The patient was treated with definite bed rest and plenty of fluid replacement with good outcome. Compressive pneumocephalus is a serious, infrequent complication anda possible cause of postoperative worsening.Medical treatment combining highly inspired oxygen therapy and rehydration are sufficient to correct the condition.

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