Pediatric follow-up and treatment of a patient diagnosed with hereditary CD59 deficiency: A case presentation

2021 ◽  
pp. 24-26
Keyword(s):  
Autosomal Recessive ◽  
Regulatory Protein ◽  
Membrane Attack Complex ◽  
Epileptic Seizures ◽  
Endothelial Damage ◽  
Neurological Symptoms ◽  
Case Presentation ◽  
The Complement System ◽  
Timely Treatment

CD59 is a regulatory protein specifically required for the preservation of human neuronal tissue. It is encoded as autosomal recessive. It is expressed in a large number of different tissues, including hematopoietic cells, endothelial cells, neurons, and neuroglia. Endothelial damage regulates the complement system by preventing the formation of the C5b-9 complex, which triggers cytotoxicity and neurodegeneration, and thus the membrane attack complex (MAC). Hereditary CD59 deficiency is a rare disease that occurs in childhood with recurrent hemolytic attacks and neurological symptoms (such as ataxia, stroke, epileptic seizures, speech disorder, loss of motor skills). The only known treatment for the disease, for now, is Eculizumab, a monoclonal antibody that acts by inhibiting the formation of MAC via the C5 complement. Therefore, it is very important that a patient diagnosed with CD59 deficiency receive appropriate doses and timely treatment of Eculizumab in order to avoid relieving serious neurological symptoms and to maintain daily life. This study, it was aimed to clarify the follow-up clinical features of a patient diagnosed with hereditary CD59 deficiency and what needs to be considered in the treatment process.

scholarly journals A Rare Cause of Refractory Severe Polyhydramnios: Antenatal Bartter Syndrome

Medicina ◽  
2021 ◽  
Vol 57 (3) ◽  
pp. 272
Author(s):  
Gina Nam ◽  
Angela Cho ◽  
Mi-hye Park
Keyword(s):  
Pregnant Woman ◽  
Prenatal Diagnosis ◽  
Preterm Labor ◽  
Autosomal Recessive ◽  
Genetic Diagnosis ◽  
Autosomal Recessive Disorder ◽  
Bartter Syndrome ◽  
Case Presentation ◽  
Good Clinical Condition

Background: Antenatal Bartter syndrome is an autosomal recessive disorder causing severe polyuria that leads to severe polyhydramnios and preterm labor. Prenatal diagnosis of antenatal Bartter syndrome is difficult because the genetic diagnosis can only be confirmed following a clinical diagnosis in infants. Reports of prenatal diagnosis and treatment of antenatal Bartter syndrome are limited. Case Presentation: We present the case of a 33-year-old pregnant woman with refractory polyhydramnios at 31 weeks of gestation. There were no structural anomalies or placental problems on ultrasonography; therefore, antenatal Bartter syndrome was suspected. With repeated amniocentesis and indomethacin therapy, the pregnancy continued to 36 weeks of gestation. The clinical features of the infant and subsequent genetic testing confirmed the diagnosis of antenatal Bartter syndrome. The baby was in good clinical condition at the 3-month follow-up visit. Conclusions: For pregnant women with early onset and refractory severe polyhydramnios without morphological anomalies, antenatal Bartter syndrome should be highly suspected.

scholarly journals Transmission of Synovial Sarcoma from A Single Multiorgan Donor to Three Transplant Recipients: Cases Report and Literature Review

2020 ◽  
Author(s):  
Jian Zhang ◽  
Ye Tian ◽  
Yang Yang ◽  
Ruifang Xu ◽  
Jun Lin
Keyword(s):  
Synovial Sarcoma ◽  
Benign Tumor ◽  
Transplant Recipients ◽  
Kidney Transplant Recipients ◽  
Case Presentation ◽  
Comprehensive Therapy ◽  
Intrathoracic Tumor ◽  
Anti Tumor Activity ◽  
Timely Treatment

Abstract Background Donor-derived malignancy is sometimes unidentified at the time of transplantation, resulting in unanticipated donor-derived malignancy, which becomes a notable problem since the increasing use of marginal donors. Case presentation We first report three cases of donor-derived synovial sarcoma from a single multiorgan donor in China. The donor was died of respiratory failure caused by an intrathoracic tumor, which was diagnosed as a benign tumor at the time of donation. All of the three recipients developed synovial sarcoma within 3 months to 13 months after transplantation, proven to be donor-derived. Liver transplant recipient died of tumor metastasis. Two kidney transplant recipients survived from metastases by comprehensive therapy, including the first use of Anlotinib, exhibiting an effective anti-tumor activity.Conclusions This report highlights the importance of detailed donor assessment, close follow-up and timely treatment, as well as the need for establishing a post-transplant surveillance system for donor-derived transmission events. Whether to use organs from a donor with initial diagnosis of benign tumor needs to be cautious. Malignant potential of tumors needs to be excluded before transplantation, otherwise, the organs should be discarded.

Hypogastric Artery Stenting for Chronic Intermittent Spinal Cord Ischemia After Thoracic Endovascular Aortic Repair

2020 ◽  
Vol 27 (5) ◽  
pp. 801-804
Author(s):  
Catharina Gronert ◽  
Nikolaos Tsilimparis ◽  
Giuseppe Panuccio ◽  
Ahmed Eleshra ◽  
Fiona Rohlffs ◽  
...  
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Ischemia ◽  
Thoracic Endovascular Aortic Repair ◽  
Neurological Symptoms ◽  
Endovascular Aortic Repair ◽  
Hypogastric Artery ◽  
Lower Extremity Weakness ◽  
Aortic Repair ◽  
The Right

Purpose: To report a case of chronic intermittent spinal cord ischemia (SCI) after thoracic endovascular aortic repair (TEVAR) and its successful treatment using hypogastric artery stenting. Case Report: A 79-year-old patient presented in May 2013 with a thoracic aortic aneurysm (TAA) and a contained rupture. He urgently underwent TEVAR that covered 274 mm of descending thoracic aorta without immediate postoperative signs of acute SCI. At 3-month follow-up, he reported repeating incidents of sudden lower extremity weakness leading to a fall with a humerus fracture. A neurological consultation revealed the tentative diagnosis of intermittent SCI caused by TEVAR and initially recommended a conservative approach. During the following year there was no clinical improvement of the symptoms. Computed tomography angiography showed a high-grade stenosis of the right hypogastric artery, which was stented in November 2014 to improve the collateral network of spinal cord perfusion. Following treatment, the patient had no further neurological symptoms; at 32 months after the reintervention, the imaging follow-up documented a patent stent and continued exclusion of the TAA. Conclusion: Intermittent neurological symptoms after TEVAR should be suspected as chronic intermittent SCI. The improvement of collateral networks of the spinal cord by revascularization of the hypogastric artery is a viable treatment option.

scholarly journals Spontaneous haemorrhage of an adrenal angiomyolipoma: case report

2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan
Keyword(s):  
Case Reports ◽  
Case Presentation ◽  
Open Adrenalectomy ◽  
Large Size ◽  
History Of ◽  
Loin Pain ◽  
Benign Tumours ◽  
Spontaneous Haemorrhage ◽  
Mesenchymal Tumours

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.

Fourth Ventricle Outlet Obstruction and Diverticular Enlargement of Luschka Foramina in a Child with Down Syndrome

2020 ◽  
pp. 1-4
Author(s):  
Valentina Orlando ◽  
Pietro Spennato ◽  
Maria De Liso ◽  
Vincenzo Trischitta ◽  
Alessia Imperato ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Fourth Ventricle ◽  
Endoscopic Third Ventriculostomy ◽  
Obstructive Hydrocephalus ◽  
Radiological Finding ◽  
Outlet Obstruction ◽  
Third Ventriculostomy ◽  
Viable Option ◽  
Case Presentation

<b><i>Introduction:</i></b> Hydrocephalus is not usually part of Down syndrome (DS). Fourth ventricle outlet obstruction is a rare cause of obstructive hydrocephalus, difficult to diagnose, because tetraventricular dilatation may suggest a communicant/nonobstructive hydrocephalus. <b><i>Case Presentation:</i></b> We describe the case of a 6-year-old boy with obstructive tetraventricular hydrocephalus, caused by Luschka and Magen­die foramina obstruction and diverticular enlargement of Luschka foramina (the so-called fourth ventricle outlet obstruction) associated with DS. He was treated with endoscopic third ventriculostomy (ETV) without complications, and a follow-up MRI revealed reduction of the ventricles, disappearance of the diverticula, and patency of the ventriculostomy. <b><i>Conclusion:</i></b> Diverticular enlargement of Luschka foramina is an important radiological finding for obstructive tetraventricular hydrocephalus. ETV is a viable option in tetraventricular obstructive hydrocephalus in DS.

scholarly journals A rare case of Pseudomonas aeruginosa bacteremia in a newborn with 58 perforations in the small intestine

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Yuanyuan Xu ◽  
Danqun Jin ◽  
Huan Ye ◽  
Youfeng Liang
Keyword(s):  
Pseudomonas Aeruginosa ◽  
Small Intestine ◽  
Early Detection ◽  
Abdominal Surgery ◽  
Rare Case ◽  
Venous Blood ◽  
Case Presentation ◽  
Systemic Infections ◽  
Emergency Abdominal Surgery ◽  
Timely Treatment

Abstract Background Community-acquired infections of Pseudomonas aeruginosa (P. aeruginosa) occur very rarely. Case presentation P. aeruginos was detected in cultures of venous blood and peritoneal exudate of a newborn with 58 perforations in the small intestine. Intravenous administration of imipenem cilastratin sodium and emergency abdominal surgery were performed. The patient fully recovered and was discharged 17 days after the operation. Conclusions Mild symptoms of systemic infections in newborns may delay the diagnosis. Early detection and timely treatment are the key to improved prognosis.

scholarly journals Bladder hamartoma in Peutz-Jeghers syndrome: a rare case report

2021 ◽  
Vol 27 (1) ◽  
Author(s):  
Jai Kumar ◽  
Mohammad Irfaan Albeerdy ◽  
Nadeem Ahmed Shaikh ◽  
Abdul Hafeez Qureshi
Keyword(s):  
Urinary Bladder ◽  
Filling Defect ◽  
Hamartomatous Polyps ◽  
Case Presentation ◽  
Rare Case Report ◽  
Mucocutaneous Pigmentation ◽  
Dominant Disease ◽  
Peutz Jeghers Syndrome ◽  
Comprehensive Compilation

Abstract Background Peutz-Jeghers syndrome is an autosomal dominant disease characterized by mucocutaneous pigmentation and hamartomatous polyps in the gastrointestinal tract (GIT). There have also been cases of extra GIT polyps such as the renal pelvis, urinary bladder, lungs and nares. Bladder hamartoma is an extremely rare finding, with only 12 cases described in the literature up to now. The rarity of the condition necessitates a comprehensive compilation of managements up to now so as to provide a better tool for the treatment of such conditions in the future. Case presentation A twenty-year-old male, known to have Peutz-Jeghers syndrome, presented to us complaining of obstructive urinary symptoms. A urethrogram done showed a filling defect at the base of the urinary bladder. The mass was resected transurethrally, and histopathology revealed a hamartoma of the bladder. The patient has since remained tumor-free on follow-up. Conclusions Transurethral resection of the bladder mass proved to be an effective therapy in this patient with no recurrence on the patient’s follow-up till now. There is still, however, a dearth of knowledge regarding the management of bladder hamartomas owing to the extreme rarity of the case.

scholarly journals Robotic-assisted proximal gastrectomy using the double-flap technique for early gastric cancer with situs inversus totalis: a case report

2021 ◽  
Vol 7 (1) ◽  
Author(s):  
Atsushi Takeno ◽  
Toru Masuzawa ◽  
Shinsuke Katsuyama ◽  
Kohei Murakami ◽  
Kenji Kawai ◽  
...  
Keyword(s):  
Gastric Cancer ◽  
Situs Inversus ◽  
Autosomal Recessive ◽  
Intraoperative Complications ◽  
Proximal Gastrectomy ◽  
Situs Inversus Totalis ◽  
Upper Body ◽  
Robot Assisted ◽  
Case Presentation ◽  
First Case

Abstract Background The robotic system has been applied in the treatment of gastric cancer (GC), and the procedure has been found to be safe and feasible. Situs inversus totalis (SIT) is a relatively rare autosomal recessive congenital anomaly. We successfully performed robot-assisted proximal gastrectomy (RAPG) and handsewn double-flap esophagogastrostomy for GC in a patient with SIT. Case presentation A 71-year-old woman was referred to us with an asymptomatic ulcerative lesion in the upper body of the stomach. Computed tomography revealed that she had SIT. She was diagnosed with cT1bN0M0, cStageIA gastric cancer. RAPG with lymph node dissection and handsewn double-flap esophagogastrostomy was performed. Robotic surgery enabled the surgeon to perform the surgery without changing his position and experiencing any confusion resulting from the patient’s reversed anatomy. It took 448 min, and no intraoperative complications occurred. Her postoperative course was uneventful; she was discharged on postoperative day 10. The final pathologic report showed pT1b1N0M0, pStage IA. Conclusions This is the first case describing RAPG with handsewn double-flap esophagogastrostomy for a SIT patient with early GC.

scholarly journals Duodenal adenocarcinoma with skin metastasis as initial manifestation: A case report

2021 ◽  
Vol 16 (1) ◽  
pp. 395-398
Author(s):  
Yixiao Fu ◽  
Cuiping Zheng ◽  
Jian Huang ◽  
Shenghao Wu ◽  
Yanyan Dai
Keyword(s):  
Oral Treatment ◽  
Duodenal Biopsy ◽  
Skin Metastasis ◽  
Metastatic Adenocarcinoma ◽  
Duodenal Adenocarcinoma ◽  
Initial Manifestation ◽  
Case Presentation ◽  
Replacement Treatment ◽  
Lost To Follow Up

Abstract Background Duodenal adenocarcinoma (DA) with skin metastasis as initial manifestation is clinically rare. In this study, we report a rare case of skin metastasis of DA. Case presentation An 84-year-old male patient developed multiple ecchymoses on the trunk and lower extremities. Physical examination showed that the ecchymosis was dark red and had a hard texture, but showed no bulging, rupture, or tenderness. The skin biopsy implied skin metastatic adenocarcinoma. After an endoscopic duodenal biopsy, the patient was finally diagnosed with DA with skin metastasis. The patient received two courses of oral treatment of Tegafur (40 mg, bid d1–d14). However, the patient stopped taking Tegafur because of its poor effect and received Chinese medicine as a replacement treatment. Unfortunately, he was lost to follow-up. Conclusions Early diagnosis of DA metastasis is of significant importance as prognosis of these patients is poor.

scholarly journals Perforation of the atrial wall and aortic sinus after closure of an atrial septal defect with an Atriasept occluder: a case report

2021 ◽  
Vol 16 (1) ◽  
Author(s):  
Zai-Qiang Zhang ◽  
Jia-Wang Ding
Keyword(s):  
Case Report ◽  
Atrial Septal Defect ◽  
Septal Defect ◽  
Emergency Operation ◽  
Atrial Wall ◽  
Aortic Sinus ◽  
Case Presentation ◽  
Lethal Complications ◽  
Life Threatening

Abstract Background While the perforation of the atrial wall and aortic sinus after closure of an atrial septal defect (ASD) is rare, it’s life-threatening, with rapid progress and high mortality. To the best of our knowledge, 21 similar cases have been reported since 1976. Case presentation We report a 16-year-old male whose atrial septal defect (ASD) was closed using a 12-mm Amplatzer septal occluder (ASO). Atrial wall and aortic sinus perforation occurred 3 months after transcatheter closure, and the patient was discharged after emergency operation. He was discharged on the 12th postoperative day in good overall condition. Conclusions With this case report, we want to illustrate that although percutaneous closure of ASD is regarded as a routine procedure, we should not forget the potentially lethal complications, especially cardiac erosion. Therefore, we should carefully evaluate the risk of erosion before surgery, and careful lifelong follow-up is needed.

Sign in / Sign up

Export Citation Format

Share Document