scholarly journals Intellectual Decline in a Patient with Migraine and APT1A2 Mutation: A Case Report

Author(s):  
Pian Wang ◽  
Yan-Rong Yang ◽  
Hong-Bo Zhang ◽  
Jiang-Hong Wang ◽  
Yan Wang

Abstract Background: Hemiplegic migraine (HM) is a rare type of migraine with aura. Some reports have described the clinical manifestations in HM patients with the ATP1A2 mutation. But the impact of the ATP1A2 mutation on intelligence in HM patients has not been evaluated in detail. Here we report a patient with intellectual decline in specific area.Case presentation: A 15-year-old boy with an aura that included disturbances in consciousness, associated with fever, vomiting, hemiplegia, and aphasia. He was diagnosed HM with the ATP1A2 mutation before. He had trouble in mathematics and depicting three-dimensional things.Conclusions: The HM with ATP1A2 patient could develop permanent intellectual disabilities. Therefore, the intelligence quotient should be carefully and comprehensively evaluated.

2020 ◽  
Vol 14 (1) ◽  
Author(s):  
Eyal Meir ◽  
Chovav Handler ◽  
Uri Kaplan ◽  
Doron Kopelman ◽  
Ossama A. Hatoum

Abstract Introduction Primary lymphoma of the colon is exceedingly rare and comprises 0.2–1% of all colon tumors. The most common subtype of lymphoma in the colon is non-Hodgkin lymphoma. Symptoms are often nonspecific, and treatment varies between chemotherapy alone and a combination of surgery and chemotherapy. Case presentation We describe a case of a Ashkenazi Jew patient who presented in the typical way that carcinoma of the colon might present but turned out to have a very rare type of tumor in both its histology and its location. Conclusion There was apparent discordance between the relative bulkiness and gross appearance of the tumor with the unrevealing result of the biopsies, demanding a high level of suspicion as to the actual presence and possible type of such a tumor in the future.


2020 ◽  
Author(s):  
G Noh ◽  
Sungjin Cho

Abstract Background: Psychiatric comorbidities of chronic urticaria (CU) have been reported and examined recently. The prevalence of mental disorders and emotional distress is high in patients with chronic urticaria. Histobulin is well known to be effective in chronic urticaria. Case Presentation: Three cases of CU accompanying psychiatric manifestations (PMs) were treated with Histobulin. One patient with CU with severe depression showed clinical changes in depressive symptoms in parallel to changes in allergic symptoms. Histobulin improved not only chronic urticaria but also the accompanying PMs in two other patients with CU. The PMs were not improved by an antihistamine (H1 blocker) in all 3 cases. Histobulin is effective not only for allergic manifestations (AMs) but also for PMs of chronic urticaria. Conclusions: PMs seem to be clinical manifestations of chronic urticaria through histamine-mediated mechanisms. PMs as well as AMs of chronic urticaria were effectively and causatively treated with Histobulin. These conditions were suggested to be ‘allergic psychiatric manifestations (APM)’ or ‘histamine-mediated psychiatric manifestations (HmPM). Further study of PMs based on histamine-mediated mechanisms, including allergies, is necessary. Accordingly, it should be clarified whether the PMs of CU are actual PMs of CU or are psychiatric comorbidities of CU.


2021 ◽  
Author(s):  
Kanta Hori ◽  
Shota Yamamoto ◽  
Maki Kosukegawa ◽  
Noboru Yamashita ◽  
Yuichiro Shinno

Abstract Background: Nutcracker syndrome (NCS) refers to compression of the left renal vein (LRV) between the aorta and superior mesenteric artery (SMA), which results in renal venous hypertension and its resultant clinical manifestations. Left renal vein thrombus (LRVT) complicating NCS is relatively rare. To the best of our knowledge, there are only four case reports of LRVT complicating NCS. Furthermore, there are no reports of pulmonary thromboembolism (PTE) caused by NCS. Herein, we describe a rare case of NCS causing LRVT and PTE and its clinical management. Case Presentation: A 40-year-old man was admitted to our hospital with acute left flank pain. Computed tomography angiography (CTA) revealed compression of the LRV between the aorta and the SMA with an LRVT. Furthermore, CTA revealed bilateral PTE. Rivaroxaban was administered as an anticoagulant. Twenty days after initiation, CTA revealed complete resolution of PTE and LRVT, and repeat CTA at 3 and 6 months showed no recurrence. Conclusions: This case report demonstrates that NSC may be a possible cause of LRVT and PTE. We review the reported cases of NCS complicated by LRVT and discuss the imaging modalities for NCS.


2020 ◽  
Author(s):  
Jianbin Zhang ◽  
Yilv Zhu ◽  
Hongwei Li ◽  
Caihua Yu ◽  
Weiwei Min

Abstract BackgroundAnatomic variation may increase the difficulty and risk for anatomic segmentectomy. The preoperative three-dimensional computed tomography bronchography and angiography(3D-CTBA) can provide a detailed model of the segmental structure, and contribute to precise and safe segmentectomy.Case presentationWe report a case with anomalous bronchi and pulmonary vessels in the right upper posterior segment (RS2), under the guidance of 3D-CTBA, anatomic RS2segmentoctomywas performed accurately and safely, the postoperative condition was uneventful.ConclusionsThis rare case highlights the importance of 3D-CTBA to guild accurate segmentectomy with anatomic variation.


2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Jianbin Zhang ◽  
Yilv Zhu ◽  
Hongwei Li ◽  
Caihua Yu ◽  
Weiwei Min

Abstract Background Anatomic variation may increase the difficulty and risk of anatomic segmentectomy. The preoperative three-dimensional computed tomography bronchography and angiography (3D-CTBA) can provide a detailed model of the segmental structure, and contribute to precise and safe segmentectomy. Case presentation This is a case of anomalous bronchi and pulmonary vessels in the right upper posterior segment (RS2). Under the guidance of 3D-CTBA, anatomic RS2 segmentectomy was performed accurately and safely. The postoperative condition was uneventful. Conclusions This rare case highlights the importance of 3D-CTBA to guild accurate segmentectomy with anatomic variation.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Ming Zhang ◽  
Jian Xie ◽  
Yan-huang Wang ◽  
Yan Feng

Abstract Background Understanding the anatomical morphology of the root canal is key for successful root canal treatment. The aims of this case presentation are to report a unique case of root canal treatment involving five root canals in the mandibular first premolar and to highlight the importance of variation in root canals of mandibular first premolars in clinical practice. Case presentation A 25-year-old male with intermittent pain in relation to the lower right posterior teeth over 3 weeks was diagnosed with symptomatic pulpitis in tooth #44. Four root canals were found, including mesiobuccal, distobuccal-1, distobuccal-2, and distolingual roots, and the Mtwo rotary system was used for root canal preparation. The four root canals were filled after 2 weeks, when a fifth canal was found, located in the buccal cavity. The fifth canal was confirmed to be the mesiolingual root canal by cone beam computed tomography (CBCT) and was found to be curved. After completion of the root canal filling, CBCT was performed, and a three-dimensional root canal image was reconstructed. After 1 week of observation, the tooth was repaired using composite resin filling. Conclusions This is the first case presentation of a fifth canal of the mandibular first premolar and advances our understanding of variations in the anatomy of the mandibular first premolar. This case report provides a reference for the treatment of mandibular first premolars.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Elías Quintero-Muñoz ◽  
Daniel Martin Arsanios ◽  
María Fernanda Estupiñán Beltrán ◽  
Juan David Vera ◽  
Catalina Palacio Giraldo ◽  
...  

Abstract Background Palmoplantar hyperkeratosis is a cutaneous manifestation that had not been clearly associated with infection by the human T-cell lymphotropic virus, which is a retrovirus that in most cases does not develop clinical pathologies and its symptoms may be undetected. The skin is one of the most affected organs, however until now only seborrheic dermatitis, xerosis/ichthyosis and infective dermatitis associated with HTLV-1 have been described as cutaneous clinical manifestations of this disease. Case presentation We present the case of a 36-year-old male patient with serologically documented HTLV-1 infection, who presented symptoms of diarrhea, malabsorption due to Strongyloides stercoralis, and in whom a physical examination revealed an association with generalized xerosis and palmoplantar keratoderma confirmed by skin biopsy. Other infectious etiologies and malignancy were ruled out. This clinical manifestation was managed with dermal hydration, and skin care which improved the thickened skin and make it less noticeable. Conclusions According to our experience, this is the first reported case of palmoplantar keratoderma associated with a human lymphotropic virus infection. This is a skin manifestation that has not been confirmed in conjunction with HTLV-I before. This implies that palmoplantar keratoderma is a new clinical manifestation of this infection, that should be considered in the initial approach of patients in endemic areas with these dermatological characteristics.


2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Victoria Therese Mücke ◽  
Viola Knop ◽  
Marcus Maximilian Mücke ◽  
Falk Ochsendorf ◽  
Stefan Zeuzem

Abstract Background Cases of immune complex vasculitis have been reported following COVID-19 infections; so far none in association with novel mRNA-based COVID-19 vaccination. This case report describes a cutaneous immune complex vasculitis after vaccination with BNT162b2. Case presentation A 76-year old male with liver cirrhosis developed an immune complex vasculitis 12 days after the second injection of BNT162b2. On physical examination, the patient presented with pruritic purpuric macules on hands and feet, flexor and extensor parts of both legs and thighs and lower abdomen, and bloody diarrhoea. Laboratory testing showed elevated inflammatory markers. After short treatment with oral steroids all clinical manifestations and laboratory findings resolved. Conclusions An increasing number of clinical manifestations have been attributed to COVID-19 infection and vaccination. This is the first written report of immune complex vasculitis after vaccination with BNT162b2. We present our case report and a discussion in the light of type three hypersensitivity reaction.


Cephalalgia ◽  
2016 ◽  
Vol 37 (13) ◽  
pp. 1294-1298 ◽  
Author(s):  
Yang Zhang ◽  
Ning Chen ◽  
Muke Zhou ◽  
Jian Guo ◽  
Jiang Guo ◽  
...  

Background Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. Method The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations. Results All FHM patients in the investigated family have typical hemiplegic migraine attacks characteristic of FHM. We identified a novel mutation (p.Leu1670Trp) of the SCN1A gene. The affected amino acid is highly conserved across different species and therefore likely plays an important role in SCN1A gene function. Conclusion The identification of a novel mutation in the SCN1A gene in the Chinese population may further aid in the understanding of FHM genetics.


2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Anka Sharma ◽  
Vikrant O. Kasat ◽  
Amit R. Parate ◽  
Anirudh Upmanyu ◽  
Jaishri S. Pagare

Abstract Background Parafunctional oral habits are known to cause deleterious effects on maxillofacial structures. One such effect is traumatic injuries secondary to chewing inanimate objects like pencils. Following trauma, the lead of the pencil has been reported to embed in the soft tissue of the oral cavity, appearing as a grayish pigmentation (graphite tattoo). However, such pigmentation has never been reported in the hard tissue (teeth). Case presentation We hereby report an interesting, first of its kind case in a four-year-old female child. She had been misdiagnosed and referred for the management of a carious tooth; which was, in reality, an exogenous deposit. Conclusions The authors highlight the impact of comprehensive history taking on arriving at the diagnosis. Counselling of the child and the parents goes a long way in flouting such deleterious habits.


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