A Rare Case in Emergency: Herpes Zoster Ophtalmicus

Herpes Zoster Ophtalmicus (HZO) is a viral disease. 60 years old male patient admitted to our department with the complains of edema over and around the left eye and crust formation on the left forehead. He was given treatment of peroral Valacyiclovir

Enterogastric Reflux: An Uncommon Diagnosis Analyzed by Hepatobiliary Imaging

Enterogastric reflux (EGR) is the reflux of bile and digestive enzymes from the small bowel into the stomach. While it is a normal physiologic process in small amounts, excessive reflux and chronic EGR can cause upper GI symptoms often mimicking more common diseases such as gallbladder disease and GERD that often leads to its underdiagnosis. Identifying EGR is significant as it has been associated with the development of gastroesophogeal pathology including gastritis, esophagitis, ulcers, and mucosal metaplasia. This article presents a 22-year-old male with enterogastric reflux causing upper abdominal pain and will discuss the role of hepatobiliary scintigraphy in its diagnosis.

Sensitization to allergen components from natural rubber latex (Hevea brasiliensis) in a 15-year old girl undergoing multiple surgical procedures

This paper describes a case of anaphylaxis due to latex exposure during surgery. Allergic reactions to latex during surgery have been described in spinal bifida patients. The case presented in our manuscript is a 15-year old girl who experienced an anaphylactic reaction during her 12th surgery of giant hairy nevus on the thigh. She had a history of oral pruritus after ingestion of chestnut suggesting latex-fruit syndrome. Specific IgE was positive to latex and the allergen components Hev b 1, 3, 5 and 6.02. The diagnosis was latex-allergy due to sensitization obtained after multiple surgeries, possibly due to the contact of latex-containing gloves. Anaphylactic shock during surgery due to NRL allergy is being reported continuously. To prevent allergic reactions during surgery in patients who undergo multiple surgeries, not only in Spina Bifida (SB) patients, frequent analyses of specific IgE to NRL are essential as well as the documentation of the clinical history after ingestion of latex-fruit syndrome related foods. Measurement of specific IgE to allergen components from NRL might be useful in the diagnosis of NRL allergy and in the investigation of the route of NRL sensitization.

Improvements in bone pain and patient quality of life in adults with Gaucher disease during substrate reduction therapy: a case series

Background: Gaucher disease type 1 (GD1) is an inherited lysosomal storage disorder caused by a deficiency of glucocerebrosidase, and is characterised by haematological, visceral and bone manifestations that vary widely in terms of severity and age at onset. In particular, the bone manifestations of GD1 can restrict physical activity and impact heavily on patient quality of life (QoL). Here, we describe three GD1 patients who showed remarkable improvements in bone-related outcomes during treatment with oral miglustat, two of whom had previously failed to respond to relatively high doses of enzyme replacement therapy (ERT). In the third, needle phobia led to oral miglustat being used as the initial treatment. Case presentation: Case 1 is a 39 year-old female diagnosed aged 4 years (genotype N370S/L444P) and underwent ERT (alglucerase then imiglucerase) since 1994. In 2013 she discontinued ERT (treatment duration 19 years) due to ongoing and debilitating bone pain and fatigue, and switched to miglustat therapy. She has since experienced substantial reductions in bone pain and improved physical function. Case 2 is a 59 year-old female diagnosed aged 17 years (genotype N370S/H162P). She commenced ERT treatment in 2002, with a brief interruption in 2007, and continued on ERT (imiglucerase followed by velaglucerase) up to 2014: total ERT monotherapy duration 12 years. She subsequently received combination therapy (velaglucerase plus miglustat) for 2 years but finally switched to miglustat monotherapy in 2016 due to ongoing bone manifestations. Her bone pain has since improved a great deal, alongside improvements in QoL parameters. Case 3 is a 48 year-old male diagnosed aged 11 years (genotype R463C/L105R). Having not received any previous treatment he avoided ERT due to life-long needle phobia. He therefore started miglustat therapy in late-2017, and has received it for approximately 1 year. During this time he experienced vast improvements in QoL due to decreased bone pain. Interestingly in all three cases, there were little or no observed changes in objective bone parameters (bone marrow burden, bone mineral density). Conclusions: These three GD1 cases illustrate the potential to achieve substantial reductions in bone pain and improvements in QoL, even in patients who have failed to respond to long-term ERT with regard to bone status.

A CYP24A1 Gene Mutation: A Rare Cause of Adult Onset Recurrent Nephrolithiasis

ABSTRACT CYP24A1 homozygous gene mutation is a well-known cause of infantile hypercalcemia and adult onset hypercalcemia/nephrocalcinosis. A mutation in this gene causes the loss of function of 24 hydroxylase enzyme that is essential for the catabolism of vitamin D metabolites. We describe a rare case of a 35 -year-old man with recurrent nephrolithiasis carrying two heterozygous variants of the CYP24A1 gene. He had recurrent nephrolithiasis as adult without hypercalcemia as child. He has strong family history of kidney stones. Biochemical work up showed hypercalcemia, hypercalciuria, high 1,25-dihydroxyvitamin D and low parathyroid hormone level. Hypercalciuria and recurrent nephrolithiasis resolved with thiazide diuretic without worsening in serum hypercalcemia. CYP24A1 inactivation mutations should be suspected in adults with personal and family history of recurrent nephrolithiasis if they present with non PTH-mediated hypercalcemia and/or hypercalciuria and elevated 1,25-dihydroxyvitamin D level even without a history of hypercalcemia during childhood. Thiazide diuretic may be used for its management safely.

Successful Anesthetic Management of a Patient with Multiple Trauma and Severe Hypothermia: A Case Report

Severe hypothermia with a temperature under 28°C is rarely compatible with life, and there are only a few cases reported in literature where patients have survived such low temperatures. We present the successful anesthetic management of a 30year old male who was found with a body temperature of 26.6°C, unresponsive, and intoxicated with deep facial and neck lacerations in the field, when the outside temperature was -15.6°C. Through proper body rewarming and anesthetic care, we were able to save our patient’s life.

Successful radiation therapy for primary cutaneous follicle center lymphoma

Primary cutaneous follicle center lymphoma (PCFCL) accounts for the majority of primary cutaneous B-cell lymphomas. We report a 60-year-old womanwith PCFCL. She had a red nodule (25 × 25 mm) on the right side of the lower jaw. She was diagnosed with PCFCL by skin biopsy. And then, she was treated with radiation therapy (total 30.6 Gy), which completely eliminated the nodule. Our case suggests that radiation therapy may be a first choice for PCFCL patients with a solitary lesion or localized lesions.

Acute pericarditis and mediastinal lymph node abscess developing after endobronchial ultrasound guided transbronchial needle aspiration

A 27-year-old man was diagnosed with inflammatory myofibroblastic tumor, and multiple lymph node and subcutaneous metastases. After several administrations of anti-tumor therapy, he underwent mediastinal lymph node biopsy using endobronchial ultrasound-guided transbronchial needle aspiration (EBUS-TBNA) to confirm tumor relapse. Five weeks later, he complained of chest pain, then rapidly developed shock due to acute pericarditis. Although he was treated with antibiotics for anaerobic bacterial infection and cardiac drainage, mediastinal lymph node abscess and pericarditis did not improve. After the surgical procedure, his physical condition dramatically improved and he was treated with another molecularly targeted therapy. Pericarditis associated with EBUS-TBNA is extremely rare. In this case, salvage was achieved by surgical drainage of the lymph node abscess and pericarditis, and long survival was obtained with further administration of anti-tumor treatment.

Enterogastric Reflux: an Uncommon Diagnosis Analyzed by Hepatobiliary Imaging

Enterogastric reflux (EGR) is the reflux of bile and digestive enzymes from the small bowel into the stomach. While it is a normal physiologic process in small amounts, excessive reflux and chronic EGR can cause upper GI symptoms often mimicking more common diseases such as gallbladder disease and GERD that often leads to its underdiagnosis. Identifying EGR is significant as it has been associated with the development of gastroesophogeal pathology including gastritis, esophagitis, ulcers, and mucosal metaplasia. This article presents a 22-year-old male with enterogastric reflux causing upper abdominal pain and will discuss the role of hepatobiliary scintigraphy in its diagnosis.

An Uncommon An Uncommon Cause of Acute Abdomen in Underprivileged Communities

Oftentimes general surgeons working in poorly resourced communities carry out emergency abdominal surgery in patients with acute abdomen with no definitive preoperative diagnosis. The definitive diagnosis is made at laparotomy. Perforated small bowel obstruction secondary to heavy Infestation with Ascaris Lumbricoides brings a number of intraoperative challenges requiring correct intraoperative surgical management decisions. We present a case of a 17 year-old patient who was admitted with a diagnosis of small bowel obstruction who at laparotomy was found to have perforated gangrenous small bowel volvulus with heavy worm load visible through the bowel wall. Because of faecal peritoneal contamination and haemodynamic instability she underwent a two staged procedure with good outcome.