scholarly journals Hereditary Hemorrhagic Telangiectasia with Hepatic Vascular Malformations

2015 ◽  
Vol 2015 ◽  
pp. 1-5 ◽  
Author(s):  
Yujiro Nishioka ◽  
Nobuhisa Akamatsu ◽  
Yasuhiko Sugawara ◽  
Junichi Kaneko ◽  
Junichi Arita ◽  
...  
Keyword(s):  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Malformations ◽  
Hereditary Disease ◽  
Vascular Lesions ◽  
Mild Anemia ◽  
Asymptomatic Patients ◽  
Japanese Male ◽  
Old Japanese ◽  
History Of ◽  
Enhanced Computed Tomography

Hereditary hemorrhagic telangiectasia (HHT) is a rare autosomal dominant hereditary disease. Early diagnosis is important to avoid complications from vascular lesions, but diagnosis is difficult in asymptomatic patients. A 69-year-old Japanese male patient was referred to our hospital for evaluation of hepatic vascular malformations. He had mild anemia with iron deficiency, and dynamic contrast-enhanced computed tomography revealed significant arteriovenous and arterioportal shunts throughout the liver. Telangiectasia from the pharynx to the duodenum was confirmed by gastrointestinal endoscopy. The patient history revealed episodes of epistaxis as well as a family history of epistaxis. He was diagnosed with HHT, although no other family member had been diagnosed with definite HHT. A diagnosis of HHT must be considered in patients with hepatic vascular malformations.

scholarly journals A Case of Fascioliasis Treated Successfully without Sequelae in a Japanese Expatriate Living in Jakarta

2015 ◽  
Vol 8 ◽  
pp. CCRep.S26578 ◽  
Author(s):  
Masataro Norizuki ◽  
Teppei Sasahara ◽  
Harumi Gomi ◽  
Yuji Morisawa ◽  
Noriko Takamura ◽  
...  
Keyword(s):  
Upper Class ◽  
Intermittent Fever ◽  
Contrast Enhanced ◽  
Japanese Female ◽  
Old Japanese ◽  
History Of ◽  
Fasciola Spp ◽  
Enhanced Computed Tomography ◽  
The City ◽  
Contrast Enhanced Computed Tomography

A 46-year-old Japanese female expatriate living in Jakarta presented with intermittent fever lasting for a month. Although she was considered at low risk of Fasciola spp. infection because she lived in an upper-class residential area of the city, the patient presented with eosinophilia after consuming organic raw vegetables; in addition, contrast-enhanced computed tomography detected microabscesses in a tractlike pattern in the liver. These findings led to an early diagnosis of fascioliasis, which was successfully treated without sequelae. In any patient with a history of consuming raw vegetables, fascioliasis should be suspected regardless of where the patient has lived.

scholarly journals Primary leiomyoma of the ureter: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Shingo Morinaga ◽  
Shigeyuki Aoki ◽  
Motoi Tobiume ◽  
Genya Nishikawa ◽  
Hiroyuki Muramatsu ◽  
...  
Keyword(s):  
Malignant Tumors ◽  
Histopathological Examination ◽  
Urine Cytology ◽  
Benign Tumors ◽  
Case Presentation ◽  
Old Japanese ◽  
Retrograde Pyelogram ◽  
History Of ◽  
The Right ◽  
Enhanced Computed Tomography

Abstract Background Only 14 cases of leiomyoma with ureteral origin have been reported previously. Such primary leiomyomas often present as hydronephrosis, making the diagnosis difficult. Radical nephroureterectomy is often performed because of the possible diagnosis of a malignant tumor. We report the 15th case of primary leiomyoma with a ureteral origin. Case presentation A 51-year-old Japanese man presented with a chief complaint of asymptomatic gross hematuria with a history of hypertension. Enhanced computed tomography showed a tumor at the upper part of the right ureter that appeared to be the cause of hydronephrosis and contracted kidney; no retroperitoneal lymphadenopathy and distal metastasis were observed. A well-defined 20-mm (diameter) defect was identified at the upper of the right ureter on retrograde pyelogram with no bladder cancer on cystoscopy. Urine cytology and right divided renal urine cytology findings were negative. Laparoscopic nephroureterectomy was performed, and the extracted tumor measured 20 × 13 mm. Histopathological examination revealed primary leiomyoma with no recurrence 16 months after the operation. Conclusions Preoperative examination with the latest available ureteroscopic technology can help preserve renal function in the case of benign tumors by enabling preoperative ureteroscopic biopsy or intraoperative rapid resection. Moreover, nephroureterectomy is recommended in the case of preoperative suspicion of ureteral malignant tumors.

scholarly journals Hereditary Hemorrhagic Telangiectasia Presenting as High Output Cardiac Failure during Pregnancy

2009 ◽  
Vol 2009 ◽  
pp. 1-3 ◽  
Author(s):  
Tareq Goussous ◽  
Alex Haynes ◽  
Katherine Najarian ◽  
Marcos Daccarett ◽  
Shukri David
Keyword(s):  
Cardiac Failure ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Preterm Labor ◽  
Vascular Malformations ◽  
Rare Complication ◽  
Pregnant Patient ◽  
Non Invasive ◽  
Hepatic Involvement ◽  
History Of ◽  
High Output

High-output cardiac failure secondary to hepatic involvement is a rare complication of hereditary hemorrhagic telangiectasia (HHT). Here we report a 43-year-old woman who presented at 29 weeks gestation of her second pregnancy with complications of right-sided heart failure and preterm labor. After delivery via cesarean section, the patient was found to have intrahepatic arteriovenous malformations through non-invasive imaging. Subsequently, a family history of vascular malformations and epistaxis was elucidated and a diagnosis of HHT was made. This case is presented, along with a review of the literature and discussion of hepatic involvement in HHT with particular focus on the pregnant patient.

scholarly journals A Case of Mixed Adenoneuroendocrine Carcinoma of the Stomach With Focal Intestinal Metaplasia and Hypergastrinemia

2015 ◽  
Vol 100 (3) ◽  
pp. 562-567 ◽  
Author(s):  
Hayato Yamauchi ◽  
Shinji Sakurai ◽  
Nobuhiro Nakazawa ◽  
Tomonori Yoshida ◽  
Yuichi Tabe ◽  
...  
Keyword(s):  
Intestinal Metaplasia ◽  
World Health ◽  
Neuroendocrine Neoplasms ◽  
World Health Organization Classification ◽  
Mixed Adenoneuroendocrine Carcinoma ◽  
Japanese Male ◽  
Old Japanese ◽  
History Of ◽  
Health Organization

Among neuroendocrine neoplasms, mixed exocrine and endocrine characteristics with at least 30% of each component are classified into mixed adenoneuroendocrine carcinoma (MANEC), according to the 2010 World Health Organization classification. We experienced a rare case of MANEC of the stomach with focal intestinal metaplasia and hypergastrinemia. A 76-year-old Japanese male was diagnosed as having gastric adenocarcinoma and underwent total gastrectomy. The pathologic diagnosis was MANEC of the stomach accompanied by unusual mucosal atrophy without Helicobacter pylori infection, the characteristics of which were different from both type A and type B atrophic gastritis. The patient has a history of long-term use of a proton pump inhibitor. Additional serum chemistry examination using preoperatively obtained plasma from the patient revealed hypergastrinemia. The mechanism of gastric MANEC carcinogenesis is still unclear, but that might be correlated with unusual intestinal metaplasia and hypergastrinemia in this case.

scholarly journals Case Report: Guitarist’s cramp as the initial manifestation of dopa-responsive dystonia with a novel heterozygous GCH1 mutation

F1000Research ◽  
2021 ◽  
Vol 10 ◽  
pp. 361
Author(s):  
Takafumi Hasegawa ◽  
Tatsuhiko Hosaka ◽  
Ryuhei Harada ◽  
Ichiro Kawahata ◽  
Kyoko Hoshino ◽  
...  
Keyword(s):  
Catalytic Domain ◽  
Age Of Onset ◽  
Diurnal Fluctuation ◽  
Heterozygous Mutation ◽  
Loss Of Function ◽  
Initial Manifestation ◽  
Japanese Male ◽  
Old Japanese ◽  
History Of ◽  
Classic Form

Dopa-responsive dystonia (DRD), also known as Segawa syndrome, is a phenotypically and genetically heterogeneous group of neurological disorders that typically presents as early-onset lower limb dystonia with diurnal fluctuation, and exhibits a marked, persistent response to levodopa. Heterozygous loss-of-function mutations in the guanosine triphosphate cyclohydrolase 1 (GCH1) are the most common cause of DRD. In addition to the classic form of the disease, there have been a number of studies addressing atypical clinical features of GCH1 related DRD with variable age of onset. This report describes a 37-year-old Japanese male patient with a 10-year history of focal upper limb dystonia that initially emerged as task-specific, guitarist’s cramp. The dystonic symptoms responded very well to levodopa treatment, and genetic analysis identified a novel heterozygous mutation in the C-terminal catalytic domain of GCH1. Insufficient recognition of this treatable condition often leads to misdiagnosis, which causes delays in the patient receiving adequate dopamine replenishing therapy. A diagnostic trial with levodopa should be considered in all patients with relatively young-onset dystonia, whether they have classic features of DRD or not.

Hemangiomas

1994 ◽  
Vol 15 (7) ◽  
pp. 266-271
Author(s):  
Julie E. Wahrman ◽  
Paul Honig
Keyword(s):  
Vascular Malformations ◽  
Postnatal Growth ◽  
Vascular Lesions ◽  
Cellular Biology ◽  
Clear Understanding ◽  
History Of ◽  
Standardized Terminology ◽  
Long Term Prognosis ◽  
Vascular Birthmarks

The lack of standardized terminology has been a significant obstacle to a clear understanding of vascular lesions. Although the classic hemangioma undergoes involution with time, the term hemangioma has been used generically to include various vascular lesions, such as port-wine stains or venous malformations. Hemangiomas differ significantly from these other vascular lesions with regard to their clinical and histologic characteristics as well as long-term prognosis. In 1982, Mulliken and Glowacki published a classification scheme that simplified the nomenclature of vascular anomalies. It is based on the cellular biology and natural history of these lesions. The authors divide vascular birthmarks into two groups: hemangiomas and vascular malformations. Definitions HEMANGIOMAS Hemangiomas are defined as benign neoplasms composed of proliferative and hyperplastic vascular endothelium. They are dynamic lesions that demonstrate rapid postnatal growth followed by slow involution. Resolution is associated with diminished cellularity and fibrosis. Hemangiomas are subdivided into three types: superficial, deep, and mixed. Superficial hemangiomas, otherwise referred to as capillary or strawberry hemangiomas, lie in the papillary (upper) dermis. Deep lesions, also called cavernous, hypodermal, or subcutaneous hemangiomas, lie in the reticular (lower) dermis, fat, and muscle. Hemangiomas also may be mixed, having both superficial and deep components. Whether capillary hemangiomas differ histologically from cavernous lesions is controversial.

scholarly journals Utility of modified Rankin Scale for brain vascular malformations in hereditary hemorrhagic telangiectasia

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
K. P. Thompson ◽  
J. Nelson ◽  
H. Kim ◽  
S. M. Weinsheimer ◽  
D. A. Marchuk ◽  
...  
Keyword(s):  
Functional Capacity ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Malformations ◽  
Treatment Options ◽  
Modified Rankin Scale ◽  
Gi Bleeding ◽  
History Of ◽  
Measuring Outcomes ◽  
Poor Outcomes

Abstract Background Approximately 10% of hereditary hemorrhagic telangiectasia (HHT) patients harbour brain vascular malformations (VMs). Intracranial hemorrhage (ICH) from brain VMs can lead to death or morbidity, while treatment options for brain VMs also have associated morbidity. The modified Rankin Scale (mRS) may provide an approach to identifying HHT-brain VM patients with poor outcomes, and their predictors. We aimed to measure the relationship between mRS score and brain VM, brain VM number, as well as other aspects of HHT, at enrollment and during prospective follow-up. Methods 1637 HHT patients (342 with brain VMs) were recruited from 14 HHT centres of the Brain Vascular Malformation Consortium since 2010 and followed prospectively (mean = 3.4 years). We tested whether the presence of brain VM, other HHT organ involvement, and HHT mutation genotype were associated with worse mRS scores at baseline and during follow-up, using linear mixed models, adjusting for age, sex, and year of visit. Results Presence of brain VMs was not associated with worse mRS score at baseline and there was no significant worsening of mRS with prospective follow-up in these patients; 92% had baseline mRS of 0–2. HHT-related gastrointestinal (GI) bleeding was associated with worse mRS scores at baseline (0.37, 95% CI 0.26–0.47, p < 0.001), as were history of anemia (0.35, 95% CI 0.27–0.43, p < 0.001) and liver VMs (0.19, 95% CI 0.09–0.30, p < 0.001). Presence of pulmonary arteriovenous malformations (AVMs) was not associated with worse mRS scores at baseline. mRS score was not associated with either HHT genotype (Endoglin vs ACVRL1). Only GI bleeding was associated with a significantly worsening mRS during prospective follow-up (0.64, 95% CI 0.21–1.08, p = 0.004). Conclusion Most HHT-brain VM patients had good functional capacity (mRS scores 0–2) at baseline that did not change significantly over 3.4 mean years of follow-up, suggesting that mRS may not be useful for predicting or measuring outcomes in these patients. However, HHT patients with GI bleeding, anemia history or liver VMs had worse mRS scores, suggesting significant impact of these manifestations on functional capacity. Our study demonstrates the insensitivity of the mRS as an outcomes measure in HHT brain VM patients and reinforces the continued need to develop outcomes measures, and their predictors, in this group.

Natural history of brain capillary vascular malformations in hereditary hemorrhagic telangiectasia patients

2016 ◽  
Vol 9 (1) ◽  
pp. 26-28 ◽  
Author(s):  
Waleed Brinjikji ◽  
Vivek N Iyer ◽  
Giuseppe Lanzino ◽  
Kent R Thielen ◽  
Christopher P Wood
Keyword(s):  
Natural History ◽  
Hereditary Hemorrhagic Telangiectasia ◽  
Vascular Malformations ◽  
Neurological Deficits ◽  
Secondary Outcome ◽  
Consecutive Series ◽  
Focal Neurological Deficit ◽  
Brain Capillary ◽  
History Of

Background and purposeBrain capillary vascular malformations (CVMs) are known to occur with relatively high frequency in hereditary hemorrhagic telangiectasia (HHT) patients. These lesions are thought to have a benign natural history but this has not been systematically studied. The purpose of our study was to examine the natural history of CVMs in a consecutive series of HHT patients.Materials and methodsConsecutive patients with untreated CVMs receiving serial imaging were included. Baseline data including demographics, HHT gene mutations, and Curacao diagnostic criteria were collected. The primary outcome was rupture on follow-up. A secondary outcome was new focal neurological deficit or seizure related to the lesion.Results22 patients with 42 CVMs were included. Mean age was 45.9±16.9 years. 18 patients (81.8%) were women and 4 (18.2%) were men. 19 patients (86.4%) had definite HHT and 3 patients (13.6%) had probable HHT. Mean follow-up was 4.6±3.7 years. There were a total of 100.2 patient years of follow-up and 222.5 lesion years. No lesions ruptured on follow-up and no patient had focal neurological deficits or seizures related to the lesions.ConclusionsOur study found that CVMs in HHT patients have a benign natural history as no patients had hemorrhage or other symptoms related to these lesions. These findings should be confirmed in additional multicenter longitudinal studies.

scholarly journals A Rare Case of Intractable Laryngeal Sarcoidosis: A Case Report

2020 ◽  
Vol 03 (01) ◽  
pp. e6-e9
Author(s):  
Masaru Miyazaki ◽  
Seiji Haraoka ◽  
Toshifumi Sakata ◽  
Takafumi Yamano
Keyword(s):  
Medical History ◽  
Epithelioid Cell ◽  
Endoscopic Examination ◽  
Laryngeal Edema ◽  
Systemic Steroid ◽  
Inflammatory Infiltration ◽  
Cervical Lymph Nodes ◽  
Old Japanese ◽  
History Of ◽  
Enhanced Computed Tomography

AbstractLaryngeal sarcoidosis is rare, and reports of recurrences after treatment are even rarer. A 49-year-old Japanese female patient visited our clinic with a 7-day history of dysphagia. Her medical history included sarcoidosis involving the cervical lymph nodes. Endoscopic examination revealed a diffusely swollen epiglottis and bilateral edema of the arytenoids. Corticosteroids and antibiotics were administered, but the laryngeal edema did not subside. Contrast-enhanced computed tomography imaging revealed bilateral low-density areas in the arytenoids. Therefore, we performed bilateral arytenoid biopsy under direct laryngoscopic guidance. The histopathology showed noncaseating epithelioid cell granulomas with moderate to severe chronic inflammatory infiltration; based on these findings, we diagnosed the patient as having laryngeal sarcoidosis. While the laryngeal edema did not recur for several months, arytenoid edema recurred 9 months after systemic steroid therapy. The patient's medical history of sarcoidosis of other organs as well as the presentation of edema of a supraglottic lesion and histopathological findings of noncaseating epithelioid cell granulomas led us to make the diagnosis of laryngeal sarcoidosis again. Laryngeal sarcoidosis is an important consideration in the differential diagnosis of laryngeal edema, as its therapy and clinical course are different from those for other diseases that present with laryngeal edema. A cautious follow-up of patients diagnosed as having laryngeal sarcoidosis is needed, because in rare cases, the laryngeal edema can become worse over time even after therapy.

Recurrent Pulmonary Embolism Caused by Superficial Femoral Vein Aneurysm

2021 ◽  
pp. 153857442110225
Author(s):  
Yoshikatsu Nomura ◽  
Meng Shun ◽  
Motoharu Kawashima ◽  
Jun Fujisue ◽  
Masato Fujimoto ◽  
...  
Keyword(s):  
Pulmonary Embolism ◽  
Femoral Vein ◽  
Oral Anticoagulants ◽  
Direct Oral Anticoagulants ◽  
Vascular Lesions ◽  
Superficial Femoral Vein ◽  
Direct Anastomosis ◽  
History Of ◽  
Enhanced Computed Tomography

Venous aneurysms (VA), particularly superficial femoral VAs (SFVAs), are rare vascular lesions. A 65-year-old woman with a history of pulmonary embolism (PE), treated with tissue plasminogen activator and oral anticoagulation, was admitted to hospital for dyspnea. Enhanced computed tomography showed recurrent PE and right SFVA with a mural thrombus. The SFVA was not identified during the first PE. The PE was not massive and was treated with direct oral anticoagulants. The thrombus in the SFVA caused the PE, and surgical repair was performed to prevent further embolic events. Under general anesthesia, the SFVA was excised, and direct anastomosis was performed. PE recurrence, venous aneurysmal changes, and thrombosis were not noted at the 1-year follow-up.

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