scholarly journals Congenital Limb Anomaly as a New Presentation of Arthrogryposis-Renal Problems-Cholestasis (ARC) Syndrome in an Iranian Infant: A Case Report

2015 ◽  
Vol 4 (3) ◽  
pp. 117-21
Author(s):  
Mitra Basiratnia ◽  
Forough Saki
Keyword(s):  
Case Report ◽  
Liver Failure ◽  
Clinical Manifestations ◽  
Male Infant ◽  
History Of ◽  
Congenital Limb ◽  
Arc Syndrome ◽  
Renal Tubular ◽  
Rare Autosomal Recessive Disease ◽  
Limb Anomaly

Background: Arthrogryposis-Renal Problems-Cholestasis (ARC) syndrome is a rare autosomal recessive disease mostly presenting with arthrogryposis, renal problems and cholestasis. We present the first report of ARC syndrome in Iran manifested. Case Report: A 4-month-old male infant was admitted in our hospital with jaundice, poor feeding, tachypnea and lethargy. He has a history of congenital limb anomaly in his feet and jaundice on fifth day of birth. Laboratory and imaging studies revealed renal tubular acidosis, nephrocalcinosis and cholestasis. Despite antibiotic therapy, he died at the third day of hospitalization due to sepsis of pseudomonas aeroginosa and Escherichia coli co-infection and upper gastrointestinal bleeding secondary to coagulopathy of liver failure. Conclusion: ARC syndrome has various and rare clinical manifestations such as lower limb congenital anomaly, hypothyroidism, liver failure and nephrocalcinosis. [GMJ. 2015;4(3):117-21]

scholarly journals Fetal Warfarin Syndrome – a case report

2022 ◽  
Vol 9 (1) ◽  
pp. 82-84
Author(s):  
Syed Sajid Hussain Shah ◽  
Bibi Aaliya
Keyword(s):  
Cardiac Surgery ◽  
Case Report ◽  
Family Planning ◽  
Plastic Surgery ◽  
Valve Replacement ◽  
Male Infant ◽  
Provisional Diagnosis ◽  
Initial Management ◽  
History Of ◽  
Nasal Hypoplasia

A two-month-old male infant presented with history of respiratory difficulty and got admitted with provisional diagnosis of pneumonia. On examination patient was having unilateral nasal hypoplasia and cyanosis with echocardiography showing truncus arteriosus. Detail history revealed that mother had valve replacement and she was taking warfarin during pregnancy. After initial management patient was referred to pediatric cardiac surgery and plastic surgery for further management. Parents were counseled regarding contraception and family planning.  

scholarly journals Case Report of Isolated Hepatic Tuberculosis

2015 ◽  
Vol 26 (1) ◽  
pp. 43-45 ◽  
Author(s):  
Mohammad Rafiqul Islam ◽  
Maria Maksud ◽  
Prianka Baral ◽  
Mahbub Hossain ◽  
Ahmedul Kabir
Keyword(s):  
Case Report ◽  
Clinical Manifestations ◽  
Common Disease ◽  
Pulmonary Tb ◽  
Common Diseases ◽  
Hepatic Tuberculosis ◽  
History Of ◽  
Space Occupying Lesion

Tuberculosis is one of the most common diseases in Bangladesh and has variable clinical manifestations. Isolated Hepatic tuberculosis is not a common disease; in fact the presentation of hepatic tuberculosis may be without having history of any active Pulmonary TB or military TB. Patient usually present without having any typical symptoms; so it is difficult for a physician to diagnose the disease quickly. Patient presenting with space occupying lesion in liver is confused with abscess, hepatoma or metastases. Here we are presenting a case report of isolated hepatic tuberculosis.Bangladesh J Medicine Jan 2015; 26 (1) : 43-45

Esthesioneuroblastoma (ENB): A case report

2006 ◽  
Vol 24 (18_suppl) ◽  
pp. 15546-15546
Author(s):  
E. Troncoso ◽  
S. Bonicatto ◽  
A. Mainella ◽  
A. Barbero ◽  
M. Lavezzaro ◽  
...  
Keyword(s):  
Case Report ◽  
Maxillary Sinus ◽  
Soft Palate ◽  
Sensory System ◽  
Clinical Manifestations ◽  
Response To Therapy ◽  
Nasal Fossa ◽  
History Of ◽  
Left Maxillary Sinus ◽  
The Right

15546 Background: ENB is a rare embrionary tumor derived from neuroblasts of the olfactory sensory system. Polypoid mass with epistaxis or nasal obstruction are the most common clinical manifestations of this tumor. It’s invasive and it frequently causes regional and distant metastasis. ENB requires a multimodality therapy. The objective of this study is to describe the form of presentation, diagnosis, treatment and evolution of this tumor on a female patient (pt), as a casuistic contribution. Methods and Case Report: A 61 year old woman with a four month history of epistaxis, nasal pain and anosmia. CT shows nasal mass invading the entire nasal cavity and upper maxillary. Pt underwent nasal resection and reconstruction with frontal flaps. Anatomopathology: ENB invading the bone. Cromogranin (+), sinaptofisin (+), CK (−), NSE (−). Three months later: lesion on the right wing nasal and a mass in the soft palate. MRI: mass on the floor of the nasal fossa that involve the left maxillary sinus and the bone palate. Kadish stage C. We treated her with three cycles of chemotherapy using cisplatin 30 mg/sqM d 1–3 iv and etoposide 100 mg/sqM d 1–3 iv. After that, remission was observed in the wing nasal lesion but the the soft palate mass shows progression. MRI: mass in nasal fossa that destroys the left maxillary sinus and causes lysis of the upper maxillary and orbital floor. Pt was treated with radiotherapy (6000 cGy) showing complete remission of the nasal lession and partial response on the soft palate, verified by physical examination and RMI. Four months after the end of radiotherapy, she continues under control and maintains the response to therapy without evidence of progression. Conclusion: ENB is an unfrequent tumor without any standard treatment. In our case, the combination of surgery, CH and RT has been effective for local control of the disease with good tolerance and acceptable quality of life. No significant financial relationships to disclose.

scholarly journals Case Report of Nuchal Cord Associated Stillbirth: What to Learn From the Complaints to the Diagnosis?

2020 ◽  
Vol 4 (2) ◽  
pp. 01-03
Author(s):  
Philippe PA
Keyword(s):  
Case Report ◽  
Umbilical Cord ◽  
Cardiac Activity ◽  
Limited Resource ◽  
Male Infant ◽  
Foetal Death ◽  
Third Trimester ◽  
Nuchal Cord ◽  
History Of ◽  
Normal Placenta

Nuchal cord is the umbilical cord accident least associated with stillbirths. It is a common occurrence; however, the expertise to diagnose multiple and tight loops on ultrasound is minimal, especially in limited-resource settings. We report a 30 year-old gravida 1, who presented at a gestation of 39/40+6/7 with a 2 day history of inability to appreciate foetal movements. An urgent obstetric ultrasound revealed absent foetal cardiac activity, reduced amniotic fluid and normal placenta but the report had no comments on the umbilical cord. She delivered a macerated male infant with a tight cord around the neck thrice. This case report highlights the importance of third trimester sonography screening of umbilical cord abnormalities and the mechanism of intrauterine foetal death associated with umbilical cord accidents.

scholarly journals Acquired colonic atresia in a 4-month old term male infant: a rare case report

2017 ◽  
Vol 4 (2) ◽  
pp. 669
Author(s):  
Kamal Nain Rattan ◽  
Gurupriya J. ◽  
Shruti Bansal ◽  
Rohit Kapoor ◽  
Roomi Yadav
Keyword(s):  
Case Report ◽  
Necrotizing Enterocolitis ◽  
Rare Case ◽  
Male Infant ◽  
Abdominal Distension ◽  
Exploratory Laparotomy ◽  
Inflammatory Mass ◽  
Colonic Atresia ◽  
Rare Case Report ◽  
History Of

Acquired colonic atresias are very rare but, are known in association with necrotizing enterocolitis. We report a case of a 4-month term male infant with recurrent episodes of abdominal distension, bilious vomiting and constipation off and on, without the history of necrotizing enterocolitis. Exploratory laparotomy was performed, an inflammatory mass with multiple dense interloop adhesions were found in the mid-transverse colon. These adhesions were lysed to identify the proximal dilated and distal blind end of the colon.  Rest of the gut was normal.  This case is unique for the fact that, it is a case of acquired colonic atresia without history of necrotizing enterocolitis, unlike other reported cases of acquired colonic atresia.

Unilateral Multiple Extramedullary Plasmacytoma of the Choroid and Conjunctiva: A Case Report

2019 ◽  
Vol 4 (2) ◽  
pp. 152-156
Author(s):  
Shymaa Mohamed ◽  
Truman Silvasi ◽  
Anthony Kubat ◽  
Thomas Aaberg
Keyword(s):  
Multiple Myeloma ◽  
Case Report ◽  
Radiation Dose ◽  
Poor Prognosis ◽  
Clinical Manifestations ◽  
Excisional Biopsy ◽  
Extramedullary Plasmacytoma ◽  
Eye Pain ◽  
History Of ◽  
Conjunctival Nodule

Purpose: We report a case of multiple extramedullary plasmacytoma (EMP) of the choroid and conjunctiva as a sign of multiple myeloma (MM) relapse. Methods: An observational case report with clinicopathologic correlation is presented. Results: A 45-year-old man with a 2.5-year history of MM presented with left eye pain. Examination revealed a conjunctival nodule and choroidal infiltrate in the left eye. Excisional biopsy demonstrated plasmacytoma of the conjunctiva and choroid. Despite radiotherapy and chemotherapy, multiple EMP recurred and the patient died 8 months after initial presentation. Conclusions: Multiple EMP of the choroid and conjunctiva has a poor prognosis and can present as a sign of MM relapse. Our imaging demonstrates the clinical manifestations of this tumor and can aid future diagnoses. Our radiation dose (20 Gy) was inadequate, which is an important reportable factor for future patients.

scholarly journals Dieulafoy’s lesion of the rectum: a case report and review of the literature

2017 ◽  
Vol 05 (09) ◽  
pp. E939-E942 ◽  
Author(s):  
Mo Wang ◽  
Xiang Bu ◽  
Jing Zhang ◽  
Shanshan Zhu ◽  
Ying Zheng ◽  
...  
Keyword(s):  
Case Report ◽  
Clinical Practice ◽  
Gastrointestinal Bleeding ◽  
Gastrointestinal Disease ◽  
Relevant Literature ◽  
Clinical Manifestations ◽  
Review Of The Literature ◽  
Dieulafoy’S Lesion ◽  
Surgical Interventions ◽  
History Of

AbstractOne patient with Dieulafoy’s lesion (DL) of the rectum who had a history of anal receptive intercourse is described and the relevant literature reviewed. DL is rare in clinical practice and is extremely rare in the rectum. It often affects patients with no history of cirrhosis or gastrointestinal disease and occurs with abrupt or recurrent gastrointestinal bleeding. Visible vessels can usually be found by endoscopy and coinstantaneous treatments are essential while surgical interventions can occur when necessary. The diagnosis of DL is mainly based on clinical manifestations and endoscopic features, and endoscopic treatment is the first option for hemostasis.

scholarly journals N-ACETYLCYSTEINE, A BOON FOR YELLOW PHOSPHORUS-INDUCED ACUTE LIVER FAILURE? A CASE REPORT

2019 ◽  
pp. 1-3 ◽  
Author(s):  
AASHIQ AHAMED SHUKKOOR ◽  
NIMMY ELIZABETH GEORGE ◽  
SARAVANAN THANGAVELU
Keyword(s):  
Case Report ◽  
Liver Failure ◽  
Acute Liver Failure ◽  
Lethal Dose ◽  
Supportive Therapy ◽  
Phosphorus Poisoning ◽  
Yellow Phosphorus ◽  
Phosphorus Containing ◽  
History Of ◽  
Anti Oxidant

Rat killer, in the form of a paste, is a commonly used rodenticide in India. It contains 3% yellow phosphorus, which is a local and a systemic toxin that damages all tissues it contacts. The lethal dose of yellow phosphorus is about 1 mg/kg of body weight. We present a case report of a 30-year-old female patient with an alleged history of intake of 30 g rat killer paste mixed with one glass juice with suicidal intent. She presented with clinical features of acute liver failure (ALF) and was treated with N-acetylcysteine (NAC) infusion with other supportive therapy and recovered completely within 13 days. Poisoning with yellow phosphorus needs to be studied in the aspect of treatment, due to the lack of any specific antidote. The patient factors that help in the recovery also need to be investigated. Although highly lethal, the recovery of ALF due to yellow phosphorus-containing rodenticide is possible. Early intravenous administration of NAC, which acts as glutathione substitute, anti-inflammatory agent, and anti-oxidant could contribute to complete resolution of ALF in yellow phosphorus poisoning.

scholarly journals Prolonged Fever and Exaggerated Hypercoagulopathy in Malaria Vivax Relapse and COVID-19 Co-infection: A Case Report

2021 ◽  
Author(s):  
Tri Pudy Asmarawati ◽  
Okla Sekar Martani ◽  
Bramantono Bramantono ◽  
Muhammad Vitanata Arifianto
Keyword(s):  
Differential Diagnosis ◽  
Case Report ◽  
Malaria Infection ◽  
Treatment Guidelines ◽  
Clinical Manifestations ◽  
Malaria Prevalence ◽  
Nasopharyngeal Swab ◽  
Delayed Treatment ◽  
History Of ◽  
Endemic Areas

Abstract BackgroundCoronavirus disease 2019 (COVID-19) often causes atypical clinical manifestations similar to other infectious diseases. In malaria-endemic areas, the pandemic situation will very likely result in co-infection of COVID-19 and Malaria, although reports to date are still few. Meanwhile, in areas with low malaria prevalence, this disease will be challenging to diagnose because the symptoms closely resemble COVID-19.Case presentationA 23-year-old male patient presented to hospital with fever, anosmia, headache, and nausea since one week before. He was diagnosed with COVID-19 and treated for approximately ten days then discharged to continue self-quarantine at home. Two weeks later, he came back to the hospital with fever that was raised intermittently every two days, and was marked by a chilling-fever-sweating cycle. We conducted a laboratory test for malaria and nasopharyngeal swab for SARS CoV-2 PCR which confirmed both of the diagnosis. The laboratory examination showed markedly elevated D-dimer. He was treated with Dihydroartemisinin-Piperaquine (DHP) 4 tablets per day for three days and Primaquine 2 tablets per day for 14 days according to Indonesian national anti-malarial treatment guidelines. After six days of treatment, the patient had no complaints, and the results of laboratory tests had improved. This report describes the key points in considering the differential diagnosis and prompt treatment of malaria infection during the pandemic of COVID-19 in an endemic country to prevent the worse clinical outcomes. COVID-19 and malaria may also cause hypercoagulable state, so a co-infection of those diseases may impact on the prognosis of the disease.ConclusionThis case report shows that considering the possibility of a co-infection in COVID-19 patient who presents with fever can prevent delayed treatment that can worsen the disease outcome. Paying more attention to a history of travel to malaria-endemic areas, a history of previous malaria infection, and exploring anamnesis regarding the fever patterns in patients are important points in making a differential diagnosis of malaria infection during the COVID-19 pandemic.

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