by Takanobu Hirosawa, Kazuhito Hirata and Wake Minoru
Case Report
A 65-year-old woman, with past history of mitral valve replacement, developed severe right heart failure. In addition to elevated right heart pressure, she had significant hypoalbuminemia as the important cause of refractory edema. Technetium-99m-labelled human serum albumin scintigraphy showed leak of protein from the transverse colon and the excretion of alpha 1 antitrypsin in the stool was markedly increased. Diagnosis of protein losing enteropathy was established. The etiology was increased lymphatic pressure secondary to right heart failure of multifactorial cause, including elevated left side filling pressures and out of proportion pulmonary hypertension due to old tuberculosis, resulting in significant tricuspid regurgitation. The patient was managed conservatively with increased dose of furosemide from 10-20mg every other day up to 40-60mg/day, and maximum dose of tolvaptan (a vasopressin 2 receptor blocker) of 15mg/ day, in addition to high protein diet.
American Journal of Medical Case Reports. 2016, 4(12), 389-392. DOI: 10.12691/ajmcr-4-12-5
Pub. Date: December 30, 2016
15707 Views3822 Downloads
by Sayarifard F, Hadipour F, Hadipour Z, Häberle J, Shafeghati Y, Sagheb S and Sarkhail P
Original Research
Background: N-acetyl-glutamate synthase (NAGS) deficiency is a rare cause of severe neonatal hyperammonemia. Case report: An 8-day old boy, who was born of non-consanguineous Iranian parents by cesarean section, was admitted to the neonatal intensive care unit due to poor feeding, unconsciousness, and seizures. High Ammonia (920 µmol/L, ref. < 100), high plasma glutamine (1628.6 µmol/L, ref. 410-960) and alanine (1151.5 µmol/L, ref. 200-600), low plasma citrulline (6.6 µmol/L, ref. 8-47) and arginine (26.7 µmol/L, ref. 20-160), without orotic aciduria (orotic acid in urine below detection limit) was revealed in metabolic work-up. Based on these results carbamoyl-phosphate synthetase 1 (CPS1) or NAGS deficiency were suspected. The infant was treated by peritoneal dialysis, intravenous sodium benzoate, L-arginine, and oral sodium phenylbutyrate and ammonia declined to 390 µmol/Lafter 10 days. Results: The genetic analysis in the patient and parents confirmed the NAGS deficiency with a novel heterozygous maternal missense mutation in exon 5 c.1172T>G (p.Leu391Arg) and the known change in exon 6c.1450T>C (p.Trp484Arg) on the paternal allele. Carglumic acid (Carbaglu®, Orphan Europe Recordati, Paris, France) was started and ammonia declined to normal (55 µmol/l) after 24 hours, for the first time ever in the patient. Based on the severe neurological impairment due to the initial hyperammonemic crisis and difficulties to access to the drug in Iran, a decision was made with the parents to stop treatment with carglumic acid (while sodium benzoate and sodium phenylbutyrate were continued) and the patient died five days later due to hyperammonemic decompensation. Conclusion: NAGS deficiency, although rare, seems to be panethnic. Thus, in case of hyperammonemia without orotic aciduria but with low plasma citrulline, NAGS deficiency should be considered and a trial with carglumic acid started as early as possible. Our case demonstrates that the prognosis of neonatal onset NAGS deficiency largely depends on early recognition and start of therapy.
American Journal of Medical Case Reports. 2016, 4(12), 384-388. DOI: 10.12691/ajmcr-4-12-4
Pub. Date: December 27, 2016
12202 Views3295 Downloads
by Sidinéia Santos da Rocha, Carlos Eduardo Nunes, Osmar Max Gonçalves Neves, Vinícius de Oliveira Menezes Bezerra and José Aderval Aragão
Case Report
Context: Aortoesophageal fistula is a rare but catastrophic complication that can occur either primarily or after aortic reconstruction. Because of its rarity, no standardized protocols for its diagnosis and treatment have been established. Objective: The objective of this study was to report on a case of aortoesophageal fistula caused by a fragment of beef bone, which was treated by means of an endoprosthesis in the descending thoracic aorta to control the bleeding. Case report: A 72-year-old female patient was initially admitted to the emergency service of a public hospital with dysphagia and intense pain in the dorsal region after having ingested a fragment of beef bone. Upper digestive endoscopy was performed to remove the foreign body. Nine days after the patient had been released, she was again admitted to the emergency service with back pain, voluminous hematemesis and signs of hypovolemia. Emergency angiotomography was performed, which revealed the presence of a pseudoaneurysm in the thoracic aorta just below the aortic arch that was suggestive of an aortoesophageal fistula. The patient was taken to the hemodynamics center and underwent an endovascular procedure to insert an endoprosthesis into the descending thoracic aorta, to control the bleeding. She was released after a hospital stay of 94 days, without further signs of infection or aortic bleeding. She evolved without symptoms during a follow-up of around 30 days, but then returned to the emergency service with persistent fever and signs of sepsis. She underwent left thoracotomy for drainage and debridement, but her condition worsened and she died during the immediate postoperative period. Conclusion: Aortoesophageal fistula is a serious clinical condition that needs to be dealt with early on, because of the risk of severe blood loss. Endovascular treatment is very important in this regard, since it promotes control over bleeding through an efficient and less invasive approach.
American Journal of Medical Case Reports. 2016, 4(12), 378-383. DOI: 10.12691/ajmcr-4-12-3
Pub. Date: December 24, 2016
9351 Views3562 Downloads1 Likes
by Smita Subramaniam, Bassam Ghabach and Andrey Manov
Case Report
Pituitary and suprasellar lesions can cause diabetes insipidus due to interruption of pathways carrying vasopressin and oxytocin to pituitary. Central diabetes insipidus is characterized by polyuria and polydipsia and is a direct result of deficiency of vasopressin. Midline mass lesions in brain and body warrant further workup for possible diagnosis of germ cell tumors. We present an interesting case of a young man with suprasellar brain lesion and diabetes insipidus with pan hypopituitarism where further workup revealed germinoma. Patient had a favorable outcome with surgery followed by radiation therapy.
American Journal of Medical Case Reports. 2016, 4(12), 376-377. DOI: 10.12691/ajmcr-4-12-2
Pub. Date: December 23, 2016
8991 Views2730 Downloads
by Jhon Paul Castillo León, Mario Montalvo Burbano and María del Cisne Ordoñez Izquierdo
Case Report
The objective of this article is to present a rare case such as peritoneal inclusion cyst or a benign cyst mesothelioma, a rare injury that predominantly affects women of reproductive age, with a still unknown etiology. Materials and Methods: We present the clinical case of a 36-year-old women, asymptomatic, with a pelvic ultrasound reported free abdominal fluid in a medical checkup. In her medical history revealed that six years ago the patient underwent laparotomy for complicated appendicitis with peritonitis. The abdominal and pelvic scan showed a giant cystic lesion of 20 cm x 17 cm x 10 cm, which occupies part of the abdomen and pelvis. Result: surgical treatment was decided and the patient underwent laparotomy, achieving the complete elimination of cystic mass and small bowel resection joined the cyst was performed. The histopathology report confirmed the diagnosis of peritoneal inclusion cyst. Conclusion: location, type of injury and behavior of mesothelioma cysts should be considered as they have a high recurrence rate and are often asymptomatic.
American Journal of Medical Case Reports. 2016, 4(12), 371-375. DOI: 10.12691/ajmcr-4-12-1
Pub. Date: December 21, 2016
16112 Views3250 Downloads