scholarly journals Cutaneous elastorrhexis; A Heralding Sign of Gronblad-Strandberg Syndrome: A Case Report

2020 ◽  
Vol In Press (In Press) ◽  
Author(s):  
Ravindranath Brahmadeo Chavan ◽  
Nitika S Deshmukh ◽  
Vasudha Abhijit Belgaumkar ◽  
Vijay Raut
Keyword(s):  
Autosomal Recessive Disorder ◽  
Pseudoxanthoma Elasticum ◽  
Skin Lesions ◽  
Lateral Side ◽  
Systemic Complications ◽  
Case Presentation ◽  
Skin Changes ◽  
Clinical Criteria ◽  
Heritable Disorder ◽  
Life Threatening

Introduction: Pseudoxanthoma Elasticum (PXE), also called Gronblad-Strandberg syndrome, is an autosomal recessive disorder due to mutation in the ABCC6 allele on chromosome 16p. It is characterized by the progressive fragmentation and calcification of elastin fibers of the dermis, blood vessels, and Bruch’s membrane of the eye. In this article, the authors present a case of PXE with cutaneous elastorrhexis. Case Presentation: A 31-year-old female presented with skin changes in the form of yellowish linearly arranged papules over the lateral side of the neck and anterior abdomen since adolescence. Her retinoscopy and cardiovascular examinations were reported as normal. The molecular analysis could not be done due to financial limitations. Based on these findings, the patient was suspected of PXE according to the revised criteria for the diagnosis of PXE. Conclusions: Skin lesions are generally first to appear in adolescence. Ocular findings develop at later ages, i.e., third or fourth decades. Cardiovascular manifestations develop later in life. Hence, skin changes can aid in the early diagnosis of PXE and help clinicians to screen patients for systemic complications. Being a multisystem heritable disorder with morbidity and mortality, there is a need to formulate the clinical criteria for definitive diagnosis in resource-poor settings where molecular assays cannot be performed. The recognition of typical skin lesions can aid in the accurate diagnosis to facilitate the early detection and management of life-threatening systemic complications.

scholarly journals Severe Adverse Toxic Effects of Low-Dose Methotrexate Treatment on an Ectopic Pregnancy Patient With Methylenetetrahydrofolate Reductase Mutations: A Case Report

2021 ◽  
Vol 8 ◽  
Author(s):  
Huan Yu ◽  
Wenhui Wang ◽  
Haiyan Liang ◽  
Kun Wang ◽  
Bin Ling
Keyword(s):  
Ectopic Pregnancy ◽  
Low Dose ◽  
Methylenetetrahydrofolate Reductase ◽  
Rare Condition ◽  
Skin Lesions ◽  
Toxic Effects ◽  
Literature Report ◽  
Case Presentation ◽  
Dose Methotrexate ◽  
Life Threatening

Background: Low-dose methylenetetrahydrofolate (LD-MTX) has been widely used for the treatment of the ectopic pregnancy (EP) for many decades, and related severe adverse toxic effects are rare. Current studies have shown that the polymorphisms of methylenetetrahydrofolate reductase (MTHFR) gene can decrease the MTX clearance, leading to the metabolite accumulation. However, there is a lack of literature report on an MTHFR gene polymorphism associated with adverse toxic effects resulting from the use of LD-MTX in an EP.Case Presentation: We report a rare case of a 38-year-old female who developed persistent fever, grade IV myelosuppression, skin lesions, mucositis, and liver injury after single dose of LDMTX to treat EP. The personalized genetic testing showed that MTHFR TT (677C>T) and MTHFR AA (1298A>C) were detected. Gradually, the symptoms improved after calcium leucovorin (CF) rescue, continuous renal replacement therapy (CRRT), promoting blood system regeneration, and multiple supportive treatments.Conclusion: This is the first report on the serious adverse toxic effects of LD-MTX on an EP patient with MTHFR mutations. We aim to alert obstetricians and gynecologists to this rare condition. The unexpected life-threatening toxicity with LD-MTX should be highly considered and recognized early. In particular, some easily overlooked gastrointestinal, skin, and mucosal symptoms occur earlier than severe myelosuppression. When toxic effects are suspected, detecting the polymorphisms of an MTHFR gene and monitoring MTX concentration in blood could assist us to formulate individualized and active treatments.

scholarly journals Hemophagocytic lymphohistiocytosis and thrombotic microangiopathy after parvovirus B19 infection and renal transplantation: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
C. J. Steffen ◽  
N. Koch ◽  
K. U. Eckardt ◽  
K. Amann ◽  
E. Seelow ◽  
...  
Keyword(s):  
Hemophagocytic Lymphohistiocytosis ◽  
Unusual Case ◽  
Kidney Biopsy ◽  
Viral Infections ◽  
Parvovirus B19 ◽  
Autoinflammatory Disorders ◽  
Case Presentation ◽  
Clinical Criteria ◽  
Life Threatening ◽  
Parvovirus B19 Infection

Abstract Background Hemophagocytic lymphohistiocytosis (HLH) is a rare and life-threatening disease characterized by hyperactivation of the immune system that causes hypercytokinemia and potentially multi organ failure. HLH can occur in patients with underlying rheumatic or autoinflammatory disorders. Additionally, HLH can develop in patients during infections or malignancies without a known genetic predisposition. Case presentation We herein report a patient, who presented with fever, both acute kidney and liver injury, anemia, thrombocytopenia and HSV stomatitis. HLH was diagnosed based on clinical criteria and qPCR revealed an acute parvovirus B19 infection as potential underlying infectious trigger. Treatment was started with both IVIG and dexamethasone. Subsequently, kidney biopsy demonstrated TMA. Conclusions In rare cases both HLH and aHUS can occur simultaneously in a patient as a consequence of viral infections. Insights from this unusual case might help physicians understand this complex symptom constellation.

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.

scholarly journals Complicated cutaneous leishmaniasis caused by an imported case of Leishmania tropica in Japan: a case report

2021 ◽  
Vol 49 (1) ◽  
Author(s):  
Hiroyuki Kitano ◽  
Chizu Sanjoba ◽  
Yasuyuki Goto ◽  
Kazumasa Iwamoto ◽  
Hiroki Kitagawa ◽  
...  
Keyword(s):  
Cutaneous Leishmaniasis ◽  
Skin Lesions ◽  
Leishmania Tropica ◽  
Case Presentation ◽  
Imported Case ◽  
Imported Cases ◽  
History Of ◽  
Hematoxylin And Eosin ◽  
Polymerase Chain ◽  
Positive Results

Abstract Background Leishmaniasis is not endemic in Japan, and imported cases are rare. However, there are increasing concerns regarding imported cases of cutaneous leishmaniasis from endemic countries to Japan. This report describes a case of imported cutaneous leishmaniasis that was diagnosed and treated in Japan. Case presentation A 53-year-old Pakistani man presented with skin lesions on both malleoli of his right ankle and the dorsum of the left foot. The skin lesions manifested as erythematous nodules surrounding an ulcer in the center of the lesion. The lesions of the malleoli of his right ankle each measured 3 × 3 cm, and the lesion on the top of his left foot measured 5 × 4 cm. He had been living and working in Japan but had a history of a visit to Pakistan for about 2 months in 2018. The skin lesions were biopsied. Giemsa and hematoxylin and eosin staining of biopsy samples showed amastigotes of Leishmania in macrophages, and the presence of Leishmania was confirmed by skin tissue culture. Polymerase chain reaction using biopsy specimens identified Leishmania parasites, and DNA sequence analysis revealed that the species was Leishmania tropica. The patient was treated with intravenous liposomal amphotericin B for 6 days. The erythema disappeared, and the erythematous nodules resolved within 3 weeks. Conclusion This is the first report of imported cutaneous leishmaniasis caused by L. tropica from Pakistan, and it is interesting that all three testing modalities showed positive results in this case.

scholarly journals Spondylocarpotarsal synostosis syndrome due to a novel loss of function FLNB variant: a case report

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Samina Yasin ◽  
Outi Makitie ◽  
Sadaf Naz
Keyword(s):  
Short Stature ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Loss Of Function ◽  
Case Presentation ◽  
Pathogenic Variants ◽  
Skeletal Malformations ◽  
Tarsal Bones ◽  
The Family ◽  
Heterozygous Carriers

Abstract Background Loss of function or gain of function variants of Filamin B (FLNB) cause recessive or dominant skeletal disorders respectively. Spondylocarpotarsal synostosis syndrome (SCT) is a rare autosomal recessive disorder characterized by short stature, fused vertebrae and fusion of carpal and tarsal bones. We present a novel FLNB homozygous pathogenic variant and present a carrier of the variant with short height. Case presentation We describe a family with five patients affected with skeletal malformations, short stature and vertebral deformities. Exome sequencing revealed a novel homozygous frameshift variant c.2911dupG p.(Ala971GlyfsTer122) in FLNB, segregating with the phenotype in the family. The variant was absent in public databases and 100 ethnically matched control chromosomes. One of the heterozygous carriers of the variant had short stature. Conclusion Our report expands the genetic spectrum of FLNB pathogenic variants. It also indicates a need to assess the heights of other carriers of FLNB recessive variants to explore a possible role in idiopathic short stature.

scholarly journals Ondine’s curse, a fatal infarction diagnosed by polysomnography and saved by ventilation: a case report

2021 ◽  
Vol 57 (1) ◽  
Author(s):  
Hany Aref ◽  
Tamer Roushdy ◽  
Amr Zaki ◽  
Nevine El Nahas
Keyword(s):  
Case Report ◽  
Diagnostic Procedure ◽  
Cardiac Pacemaker ◽  
Brainstem Infarction ◽  
Case Presentation ◽  
Ondine’S Curse ◽  
Lateral Medullary Syndrome ◽  
Life Threatening ◽  
Ondine's Curse

Abstract Background Lateral medullary syndrome causing Ondine’s curse is a rare yet fatal brainstem infarction. Any patient presenting with lateral medulla infarction ought to be well observed and a polysomnography must be ordered for him. Case presentation A patient presenting with Ondine’s curse is dealt with through polysomnography as a diagnostic procedure that was followed by tracheostomy with portable ventilator and cardiac pacemaker as a therapeutic maneuver which ultimately preserved his life. Conclusion Lateral medullary syndrome infarct could be a life-threatening stroke if not diagnosed and managed properly.

scholarly journals Two deaths due to explosion of cylinders of liquid petroleum gas

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Nagendra Singh Sonwani ◽  
Navneet Ateriya ◽  
Arvind Kumar ◽  
Anil Kohli
Keyword(s):  
Blast Injuries ◽  
Air Conditioner ◽  
Liquefied Petroleum Gas ◽  
Case Presentation ◽  
Gas Cylinder ◽  
Liquid Petroleum Gas ◽  
Life Threatening ◽  
System Life ◽  
High Pressure Equipment ◽  
Coffee Machine

Abstract Background Cylinder blasts can inflict multi-system life-threatening injuries to one or many persons simultaneously if they are nearby. The explosion in high-pressure equipment produces injuries due to its varied effects. Cases have been reported where the blast occurred in balloon gas cylinder, oxyacetylene gas cylinder, oxygen cylinder, coffee machine, and compressor of a split air conditioner (AC). Most of the cases are accidental. The investigation into the blast circumstances is of utmost importance to find out the manner and device involved. Case presentation Here, we present a report of two cases where victims suffered blast injuries at the same location due to the explosion of two different capacity liquefied petroleum gas (LPG) domestic cylinder and died on the spot. Conclusion The investigation into the blast circumstances is of utmost importance to find out the manner and device involved. Malpractice involving use of cylinder to fill another one might be dangerous for the person involved and present in the vicinity. This practice should be discouraged by lay person.

scholarly journals Recombinant factor XIII: a safe and novel treatment for congenital factor XIII deficiency

Blood ◽  
2012 ◽  
Vol 119 (22) ◽  
pp. 5111-5117 ◽  
Author(s):  
Aida Inbal ◽  
Johannes Oldenburg ◽  
Manuel Carcao ◽  
Anders Rosholm ◽  
Ramin Tehranchi ◽  
...  
Keyword(s):  
Factor Xiii ◽  
Autosomal Recessive Disorder ◽  
Allergic Reactions ◽  
Open Label ◽  
Impaired Wound Healing ◽  
Bleeding Rate ◽  
Life Threatening ◽  
A Subunit ◽  
Bleeding Episodes ◽  
Congenital Factor

Congenital factor XIII (FXIII) deficiency is a rare, autosomal-recessive disorder, with most patients having an A-subunit (FXIII-A) deficiency. Patients experience life-threatening bleeds, impaired wound healing, and spontaneous abortions. In many countries, only plasma or cryoprecipitate treatments are available, but these carry a risk for allergic reactions and infection with blood-borne pathogens. The present study was a multinational, open-label, single-arm, phase 3 prophylaxis trial evaluating the efficacy and safety of a novel recombinant FXIII (rFXIII) in congenital FXIII-A subunit deficiency. Forty-one patients ≥ 6 years of age (mean, 26.4; range, 7-60) with congenital FXIII-A subunit deficiency were enrolled. Throughout the rFXIII prophylaxis, only 5 bleeding episodes (all trauma induced) in 4 patients were treated with FXIII-containing products. The crude mean bleeding rate was significantly lower than the historic bleeding rate (0.138 vs 2.91 bleeds/patient/year, respectively) for on-demand treatment. Transient, non-neutralizing, low-titer anti-rFXIII Abs developed in 4 patients, none of whom experienced allergic reactions, any bleeds requiring treatment, or changes in FXIII pharmacokinetics during the trial or follow-up. These non-neutralizing Abs declined below detection limits in all 4 patients despite further exposure to rFXIII or other FXIII-containing products. We conclude that rFXIII is safe and effective in preventing bleeding episodes in patients with congenital FXIII-A subunit deficiency. This study is registered at http://www..clinicaltrials.gov as number NCT00713648.

scholarly journals NUDT15 polymorphism explains serious toxicity to azathioprine in Indian patients with chronic immune thrombocytopenia and autoimmune hemolytic anemia: a case series

2020 ◽  
Vol 0 (0) ◽  
Author(s):  
Anup J. Devasia ◽  
Raveen Stephen Stallon Illangeswaran ◽  
Infencia Xavier Raj ◽  
Biju George ◽  
Poonkuzhali Balasubramanian
Keyword(s):  
Hemolytic Anemia ◽  
Autoimmune Hemolytic Anemia ◽  
Immune Thrombocytopenia ◽  
Case Series ◽  
Severe Toxicity ◽  
Toxic Side Effect ◽  
Case Presentation ◽  
Oral Ulcers ◽  
Asian Patients ◽  
Life Threatening

AbstractObjectivesAzathioprine (AZA) is a commonly used immunosuppressant in patients with autoimmune diseases. The toxic side effect to AZA (myelosuppression, hair loss, and oral ulcers) are highly unpredictable which can be life threatening if not identified earlier and dose adjustments made or the drug is withdrawn.Case presentationHere we report a case series of five patients with severe toxicity while on treatment with AZA for autoimmune hemolytic anemia (n=1) and Immune thrombocytopenia (n=4). The common thiopurine methyltransferase (TPMT) variants (TPMT*2, *3A, *3B) were not present in these patients. However, all these patients had the NUDT15 415C>T variant that has been reported to explain serious toxicity to thioguanine in Asian patients.ConclusionsOur report suggests pre-emptive genotype-based dosing of AZA could reduce adverse toxicity and hence better outcome.

scholarly journals Melanosis coli in a peritoneal dialysis patient: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Nor Fadhlina Zakaria ◽  
Nurul Izah Ahmad ◽  
Elmina Mokhtar ◽  
Wan Zul Haikal Hafiz Wan Zukiman ◽  
Anim Md Shah
Keyword(s):  
Peritoneal Dialysis ◽  
Chronic Diarrhea ◽  
Histopathological Examination ◽  
Hypovolemic Shock ◽  
Peritoneal Dialysis Patient ◽  
Electrolyte Imbalance ◽  
Case Presentation ◽  
Melanosis Coli ◽  
Life Threatening ◽  
Black Discoloration

Abstract Background Patients who undergo peritoneal dialysis (PD) are at risk of gut bacteria translocation leading to peritonitis when there is chronic diarrhea. Chronic diarrhea is defined as any course of diarrhea that lasts at least 4 weeks, which can be continuous or intermittent. Chronic diarrhea of any duration may cause dehydration, electrolyte imbalance, and life-threatening hypovolemic shock. In PD patients, excessive ultrafiltration from the exchanges, combined with severe gastrointestinal loss, may cause hypovolemic shock, electrolyte imbalance, and metabolic acidosis. There are multiple causes of chronic diarrhea in PD patients including infective causes, mitotic lesions, and rarely the regular and excessive use of laxatives, which is a diagnosis of exclusion. Case presentation We report a case of Melanau lady with chronic diarrhea secondary to laxative usage in a patient being treated with automated peritoneal dialysis (APD). The patient went into hypovolemic shock, but luckily did not contract peritonitis. A colonoscopy revealed brown to black discoloration of the colon, a feature suggestive of melanosis coli. A biopsy of the intestine further confirmed the diagnosis by histopathological examination. Withdrawal of laxatives and the introduction of probiotics improved the symptoms tremendously. Conclusions The chronic use of laxatives in PD patients can potentially lead to a devastating problem; thus, the management team must monitor treatment commencement appropriately.

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