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International Journal of Surgery Case... Jun 2024The most common cancer among females worldwide and in Saudi Arabia is breast cancer. Lobular breast carcinoma is the second most common subtype of breast cancer. There...
INTRODUCTION AND IMPORTANCE
The most common cancer among females worldwide and in Saudi Arabia is breast cancer. Lobular breast carcinoma is the second most common subtype of breast cancer. There are different patterns of metastasis as ductal breast cancer spreads to the liver, lung, brain, and bone while the lobular subtype metastasizes to the gastrointestinal tract.
CASE PRESENTATION
A 69-year-old Indian pilgrim presented to the ER complaining of abdominal pain, vomiting, and abdominal distention admitted as a case of intestinal obstruction. CT scan demonstrated intestinal obstruction with transition zone at the terminal ileum. The patient underwent exploratory laparotomy where she was found to have a mass at the terminal ileum. Resection of around 8 cm of small bowel and primary anastomosis were done, histopathology revealed metastatic lobular breast carcinoma.
CLINICAL DISCUSSION
Patients with metastatic breast cancer to the gastrointestinal tract often present with nonspecific symptoms, while acute cases present with complications such as perforation. In a retrospective review of metastatic breast cancer, the majority metastasizes to the colon and rectum, while 19 % to the small bowel. Palliative surgery is considered the first-line treatment of complicated patients, while stable cases are referred to medical oncology.
CONCLUSION
Breast cancer is the second most common cancer leading to death and lobular subtype has more propensity to metastasize to the gastrointestinal tract compared to ductal breast cancer. Regarding patients presenting to the emergency bay, treating the emergency complaints is the standard management. For immigrant patients, we highly recommend creating a data system for sending histopathology reports to facilitate follow-up in their countries.
CASE PRESENTATION
A 69-year-old Indian pilgrim patient presented to the ER complaining of abdominal pain for 3 days associated with nausea and vomiting, not passing stool nor flatus was admitted as a case of intestinal obstruction. On examination patient was in pain with tachycardia, abdominal distended with generalized tenderness. Labs revealed metabolic alkalosis with hypokalemia. Abdomen X-ray showed signs of intestinal obstruction with multiple air-fluid levels and dilated small bowel loops. CT scan abdomen and pelvis with IV contrast reported (Figs. 1,2) distended ileum around 5 cm proximal to the transition zone at the terminal ileum with mild free fluid in the abdomen and pelvis. The patient underwent exploratory laparotomy where she was found to have a mass at the terminal ileum with the proximal loop dilated and distal loops collapsed, and further exploration showed enlarged mesenteric lymph nodes. Small bowel resection of around 8 cm and side to side anastomosis was done to relive the intestinal obstruction. Gross pathology showed a solid lesion protruding into the lumen measuring 1.5*1.5*1.5 cm, while the microscopic description consists of small cells with round ovoid nuclei which lack cohesion and appear individually dispersed through a fibrous connective tissue and arranged in single file linear cords that invade the stroma (Fig. 4) concluded as metastatic lobular carcinoma of the breast. Immunohistochemistry reported CK7 + ve, ER + ve, EMA + ve and CKAE1/AE3 + ve. The patient had an uneventful recovery, then she was discharged against medical advice and traveled to her country after two days before the histopathology result and she lost follow-up with us.
PubMed: 38865947
DOI: 10.1016/j.ijscr.2024.109855 -
CMAJ : Canadian Medical Association... Jun 2024
Topics: Humans; Female; Hypokalemia; Alkalosis; Young Adult; Diagnosis, Differential
PubMed: 38857937
DOI: 10.1503/cmaj.240163 -
Annals of Medicine and Surgery (2012) Jun 2024Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure.
BACKGROUND
Bartter syndrome is an autosomal recessive salt reabsorption disorder that results in decreased extracellular fluid volume with low/normal blood pressure.
CASE PRESENTATION
A 17-year-old boy with polydipsia, polyuria, weakness in the lower limbs, and ataxic gait. His Laboratory test shows hypokalemia; hypochloremia, hypomagnesemia and metabolic alkalosis. The authors' patient was managed by fluid and electrolyte replacement, which is essential in emergency management.
CONCLUSION
Bartter syndrome is difficult to treat, and currently, there is no complete cure. The overall prognosis depends on the extent of receptor dysfunction, and despite these facts, most patients can live a normal life if they strictly follow their treatment plan.
PubMed: 38846905
DOI: 10.1097/MS9.0000000000001994 -
Cureus May 2024This case report delves into the rare occurrence of hyperventilation syndrome (HVS) with hypocalcemia in an 18-year-old female diagnosed with autism spectrum disorder...
This case report delves into the rare occurrence of hyperventilation syndrome (HVS) with hypocalcemia in an 18-year-old female diagnosed with autism spectrum disorder (ASD). The rare occurrence highlights the importance of recognizing the potential association between HVS, hypocalcemia, and ASD, emphasizing the need for comprehensive evaluation and management strategies in individuals with ASD presenting with unusual symptoms. Despite ongoing psychotherapeutic treatment, the patient's clinical examination revealed ASD-related communication anomalies. Treatment with Escitalopram resolved panic attacks but left residual anxiety. During an emergency room visit for menstrual-related abdominal pain, a hyperventilation crisis ensued, leading to respiratory alkalosis and hypocalcemia. Swift intervention, including closed mask ventilation and electrolyte infusion, successfully alleviated symptoms. Follow-up assessments indicated normal thyroid function and vitamin D levels. The case highlights the necessity for clinicians to consider electrolyte imbalances in anxiety attacks among ASD patients, emphasizing the importance of timely management for patient safety. The intricate interplay between hyperventilation syndrome, anxiety, and hypocalcemia in ASD patients is explored, offering valuable insights for the nuanced understanding and comprehensive assessment of such cases.
PubMed: 38832161
DOI: 10.7759/cureus.59639 -
Cureus May 2024Gitelman syndrome (GS) is an inherited somatic recessive disorder characterized by hypokalemic metabolic alkalosis, accompanied by hypocalciuria and hypermagnesuria. It...
Gitelman syndrome (GS) is an inherited somatic recessive disorder characterized by hypokalemic metabolic alkalosis, accompanied by hypocalciuria and hypermagnesuria. It usually presents in late childhood or young adults with muscle weakness, tetany, or convulsions. Limited information is available in the literature regarding the proper management of this syndrome during pregnancy, as well as its effects on both the mother and the child. We herein present the case of a 16-year-old primigravida who was admitted to the emergency department with chief complaints of abdominal pain, weakness, and vomiting for the past three days during the 12th week of gestation. Routine blood investigations revealed hypokalemia and hypomagnesemia, and electrocardiography (ECG) showed ST-segment depressions. Further evaluation was performed due to persistent hypokalemia, and metabolic alkalosis, hypocalciuria, and hyperaldosteronism were found. Hence, a clinical diagnosis of GS took place. The pregnancy progressed smoothly without complications; potassium levels remained consistently below normal, requiring supplementation three times during pregnancy. Pregnant women with GS should be reported due to the rarity of cases, aiming to establish a standardized approach for monitoring and management.
PubMed: 38832152
DOI: 10.7759/cureus.59644 -
Cureus Apr 2024Down syndrome often coincides with hypothyroidism, a condition that may lead to pericardial effusion (PE), though cardiac tamponade remains an infrequent complication....
Down syndrome often coincides with hypothyroidism, a condition that may lead to pericardial effusion (PE), though cardiac tamponade remains an infrequent complication. Cardiac tamponade is an emergency that requires immediate diagnosis and treatment. Here, we present a case of a patient who presented to the emergency department (ED) with Down syndrome associated with hypothyroidism and underwent immediate pericardiocentesis and pericardial window placement. A 52-year-old male, with a history of Down's syndrome and hypothyroidism, presented to the ED complaining of shortness of breath and chest pain. He had previously been diagnosed with PE. On examination, he exhibited average heart rate, low blood pressure, decreased heart sounds, and jugular venous distention, with no murmur or frictional rub. Initial investigations revealed normal sinus rhythm on EKG but an enlarged cardiac silhouette on chest X-ray. Laboratory tests showed elevated C-reactive protein and sedimentation rate, suggestive of inflammation, while arterial blood gas showed compensated respiratory alkalosis. Thyroid-stimulating hormone (TSH) was elevated. Despite supplemental oxygen, the patient's condition worsened, prompting a bedside ultrasound revealing cardiac tamponade. A cardiology consultation recommended immediate transfer for treatment. At a different hospital, pericardiocentesis was performed, followed by the placement of a pericardial window to prevent recurrence. Follow-up imaging showed improvement in pleural effusion and resolution of cardiac tamponade. The patient's symptoms improved, and he was discharged with regular follow-up. Down's syndrome is a chromosomal disorder characterized by the trisomy of chromosome 21. It is associated with various cardiac complications. Such patients have an elevated risk of PE due to a variety of reasons, such as viral infections, hypothyroidism, or autoimmune diseases. Although PE has been found, the incidence of cardiac tamponade has rarely been reported. The pathogenesis of PE in hypothyroidism is due to the leakage of fluids from the capillaries and the build-up of fluid in the pericardial space. The treatment of PE is treating hypothyroidism with thyroxine. In rare cases like ours, when the patient develops cardiac tamponade, the patient often needs pericardiocentesis. Our patient had to undergo pericardial window placement, as well to prevent recurrent symptoms. In conclusion, this case report sheds light on the occurrence of cardiac tamponade in a patient with Down's syndrome and hypothyroidism, a relatively rare complication that necessitates prompt recognition and intervention. Through this report, we emphasize the importance of considering cardiac tamponade in the differential diagnosis of patients with Down's syndrome presenting with symptoms suggestive of cardiovascular compromise.
PubMed: 38803753
DOI: 10.7759/cureus.59023 -
Zhongguo Dang Dai Er Ke Za Zhi =... May 2024To summarize the clinical characteristics and genetic variations in children with cystic fibrosis (CF) primarily presenting with pseudo-Bartter syndrome (CF-PBS), with... (Review)
Review
OBJECTIVES
To summarize the clinical characteristics and genetic variations in children with cystic fibrosis (CF) primarily presenting with pseudo-Bartter syndrome (CF-PBS), with the aim to enhance understanding of this disorder.
METHODS
A retrospective analysis was performed on the clinical data of three children who were diagnosed with CF-PBS in Hunan Children's Hospital from January 2018 to August 2023, and a literature review was performed.
RESULTS
All three children had the onset of the disease in infancy. Tests after admission showed hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis, and genetic testing showed the presence of compound heterozygous mutation in the gene. All three children were diagnosed with CF. Literature review obtained 33 Chinese children with CF-PBS, with an age of onset of 1-36 months and an age of diagnosis of 3-144 months. Among these children, there were 29 children with recurrent respiratory infection or persistent pneumonia (88%), 26 with malnutrition (79%), 23 with developmental retardation (70%), and 18 with pancreatitis or extrapancreatic insufficiency (55%). Genetic testing showed that c.2909G>A was the most common mutation site of the gene, with a frequency of allelic variation of 23% (15/66).
CONCLUSIONS
CF may have no typical respiratory symptoms in the early stage. The possibility of CF-PBS should be considered for infants with recurrent hyponatremia, hypokalemia, hypochloremia, and metabolic alkalosis, especially those with malnutrition and developmental retardation. genetic testing should be performed as soon as possible to help with the diagnosis of CF.
Topics: Humans; Cystic Fibrosis; Male; Female; Infant; Cystic Fibrosis Transmembrane Conductance Regulator; Bartter Syndrome; Child, Preschool; Mutation; Child; Retrospective Studies
PubMed: 38802912
DOI: 10.7499/j.issn.1008-8830.2310080 -
Obstetric Medicine Jun 2024Hypercalcemia is rare in women of child-bearing age, and most cases are due to primary hyperparathyroidism. A 28-year-old woman, 14 weeks pregnant with dichorionic...
Hypercalcemia is rare in women of child-bearing age, and most cases are due to primary hyperparathyroidism. A 28-year-old woman, 14 weeks pregnant with dichorionic diamniotic twins, presented to hospital with vomiting, muscle cramps, and weakness. She had been taking calcium carbonate for gastric reflux and nausea from 5 weeks of gestation. Investigations revealed severe hypercalcemia, metabolic alkalosis, and renal injury. She was transferred to intensive care, receiving fluid resuscitation and subcutaneous calcitonin followed by dialysis. Investigations revealed suppressed PTH and PTH-related peptide, negative malignancy screening and low vitamin D level. Calcium and renal function quickly normalized and with cessation of calcium carbonate remained normal throughout the rest of pregnancy. Reports of calcium-alkali syndrome causing severe hypercalcemia are scarce, with most cases occurring later in gestation. This case represents a dramatic presentation requiring renal replacement therapy early in twin gestation.
PubMed: 38784190
DOI: 10.1177/1753495X221145574 -
Cureus Apr 2024Cushing's syndrome (CS) arises from an excess of endogenous or exogenous cortisol, with Cushing's disease specifically implicating a pituitary adenoma and exaggerated...
Cushing's syndrome (CS) arises from an excess of endogenous or exogenous cortisol, with Cushing's disease specifically implicating a pituitary adenoma and exaggerated adrenocorticotropic hormone (ACTH) production. Typically, Cushing's disease presents with characteristic symptoms such as weight gain, central obesity, moon face, and buffalo hump. This case report presents an unusual manifestation of CS in a 48-year-old male with a history of hypertension, where severe hypokalemia was the primary presentation. Initial complaints included bilateral leg swelling, muscle weakness, occasional shortness of breath, and a general feeling of not feeling well. Subsequent investigations revealed hypokalemia, metabolic alkalosis, and an abnormal response to dexamethasone suppression, raising concerns about hypercortisolism. Further tests, including 24-hour urinary free cortisol and ACTH testing, confirmed significant elevations. Brain magnetic resonance imaging (MRI) identified a pituitary macroadenoma, necessitating neurosurgical intervention. This case underscores the rarity of CS presenting with severe hypokalemia, highlighting the diagnostic challenges and the crucial role of a collaborative approach in managing such intricate cases.
PubMed: 38774180
DOI: 10.7759/cureus.58695