Τετάρτη 9 Δεκεμβρίου 2020

Pseudohyperkalemia caused by essential thrombocythemia in a patient with chronic renal failure: A case report.

paythelady.612 shared this article with you from Inoreader
Related Articles

Pseudohyperkalemia caused by essential thrombocythemia in a patient with chronic renal failure: A case report.

World J Clin Cases. 2020 Nov 06;8(21):5432-5438

Authors: Guo Y, Li HC

Abstract
BACKGROUND: Hyperkalemia is one of the most common complications of chronic renal failure. Pseudohyperkalemia is caused by elevated levels of serum potassium in vitro and is usually accompanied by thrombocythemia. Although an elevated level of potassium is typically correlated with impaired renal function, pseudo-hyperkalemia has been rarely reported in patients with chronic renal failure. Here, we conducted a review of the literature to study the case of pseudo-hyperkalemia caused by the essential thrombocythemia in a patient with chronic renal failure.
CASE SUMMARY: A 73-year-old woman was admitted to our hospital with complaints of palpitation, dyspnea, and acratia for 2 d and a history of essential throm-bocythemia for 1 year. The routine blood test showed platelet count of 1460 × 109/L, and biochemistry tests showed that the patient suffered from hyperkalemia (potassium: 7.50 mmol/L) and renal failure (estimated glomerular filtration rate: 8.88 mL/min). Initial treatment included medicines to lower her potassium-levels and hemodialysis. However, the therapy did not affect her serum potassium levels. Plasma potassium concentration measurements and a history of essential thrombocythemia established the diagnosis of pseudohyperkalemia. The treatments of the platelet disorder gradually normalized serum potassium levels; however, the treatments had to be discontinued later due to the severe leukopenia, and enhanced levels of serum potassium concentrations were observable in the patient. Since plasma sampling was not permitte d, doctors had to use a diuretic just in case. Finally, the patient collapsed into unconsciousness and died due to multiple organ dysfunction and electrolyte disturbance.
CONCLUSION: We reviewed the literature and suggest that serum and plasma potassium values should both be measured for patients whose platelet counts exceed 500 × 109/L to eliminate chances of pseudohyperkalemia, especially for those with chronic renal failure. An inappropriate treatment for pseudohyperkalemia can aggravate a patient's condition.

PMID: 33269281 [PubMed]

View on the web

Acute leukemic phase of anaplastic lymphoma kinase-anaplastic large cell lymphoma: A case report and review of the literature.

paythelady.612 shared this article with you from Inoreader
Related Articles

Acute leukemic phase of anaplastic lymphoma kinase-anaplastic large cell lymphoma: A case report and review of the literature.

World J Clin Cases. 2020 Nov 06;8(21):5439-5445

Authors: Zhang HF, Guo Y

Abstract
BACKGROUND: Anaplastic large cell lymphoma (ALCL) is a rare and heterogeneous malignant tumor, which is classified as anaplastic lymphoma kinase (ALK)positive ALCL and ALK- ALCL. Many patients are diagnosed with ALCL at the stage of bone marrow involvement. However, ALCL patients with clinical manifestations consistent with acute leukemia are relatively rare.
CASE SUMMARY: In this report, the patient did not receive appropriate diagnosis and treatment despite a two-year history of lymph node enlargement. Hereafter, she was admitted for B symptoms and was diagnosed as ALK-ALCL by lymph node biopsy. Then, the disease progressed to leukemia without any treatment after 2 mo. The proportion of lymphoma cells in bone marrow was as high as 96%, and the proportion of peripheral blood was 84%. She also had clinical manifestations similar to acute leukemia. After completion of chemotherapy, she developed granulocytopenia and fever and died from septicemia.
CONCLUSION: ALCL with leukemic presentation is a late manifestation of lymphoma with low chemotherapy tolerance and poor prognosis.

PMID: 33269282 [PubMed]

View on the web

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

paythelady.612 shared this article with you from Inoreader
Related Articles

Chinese patient with cerebrotendinous xanthomatosis confirmed by genetic testing: A case report and literature review.

World J Clin Cases. 2020 Nov 06;8(21):5446-5456

Authors: Cao LX, Yang M, Liu Y, Long WY, Zhao GH

Abstract
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a treatable autosomal recessive inherited metabolic disorder. It results from a deficiency of sterol 27-hydroxylase (CYP27A1), which is a mitochondrial cytochrome P450 enzyme that catalyzes the hydroxylation of cholesterol and modulates cholesterol homeostasis. Patients with CYP27A1 deficiency show symptoms related to excessive accumulation of cholesterol and cholestanol in lipophilic tissues such as the brain, eyes, tendons, and vessels, resulting in juvenile cataracts, tendon xanthoma, chronic diarrhea, cognitive impairment, ataxia, spastic paraplegia, and peripheral neuropathy. CTX is underdiagnosed as knowledge of the disorder is mainly based on case reports.
CASE SUMMARY: A Chinese family with CTX consisting of one patient and four heterozygous carriers was studied. The patient is a 47-year-old male, who mainly had psychiatric signs but without some cardinal features of CTX such as cataracts, cerebellar ataxia, pyramidal signs and chronic diarrhea. There was a significant increase in the concentration of free fatty acid compared to normal range. Doppler ultrasound of the urinary system showed multiple left kidney stones, a right kidney cyst, and a hypoechoic area in the bladder, which could move with body position. Sagittal and axial magnetic resonance imaging (MRI) of the right ankle joint showed apparent enlargement of the right Achilles tendon and upper medial malleolus flexor tendon, abnormal thickening of the plantar fat, and a small amount of exudation around the fascia in front of the Achilles tendon. Cerebral MRI suggested white matter (WM) demyelination and slight cerebral atrophy. The diagnosis was confirmed by targeted sequencing, which identified compound heterozygous mutations in exon 2 and intron 7 of the CYP27A1 gene (c.435G>T, c.1263+1G>A). Treatment for 3 wk with a combination of lipid-lowering and antipsychotic therapy improved his psychiatric symptoms and normalized the levels of serum free fatty acid. Sediments in the bladder disappeared after therapy.
CONCLUSION: CYP27A1 genetic analysis should be the definitive method for CTX diagnosis. This case suggests that urinary system diseases may be neglected in CTX patients. The clinical, biological, radiological, and genetic characteristics of CTX are summarized to promote early diagnosis and treatment of this disease.

PMID: 33269283 [PubMed]

View on the web

Incomplete Kawasaki disease complicated with acute abdomen: A case report.

paythelady.612 shared this article with you from Inoreader
Related Articles

Incomplete Kawasaki disease complicated with acute abdomen: A case report.

World J Clin Cases. 2020 Nov 06;8(21):5457-5466

Authors: Wang T, Wang C, Zhou KY, Wang XQ, Hu N, Hua YM

Abstract
BACKGROUND: Kawasaki disease (KD) is an acute systemic vasculitis characterized by unknown etiology.
CASE SUMMARY: A 4.5-year-old boy developed an acute abdomen during the onset of incomplete KD. He still had persistent abdominal pain after undergoing exploratory laparotomy and appendectomy. Ultrasound examination at early onset revealed a giant coronary artery aneurysm. The patient developed a myocardial infarction and heart failure accompanied by respiratory and cardiac arrest. He underwent coronary artery revascularization and coronary artery bypass graft using an autologous internal mammary artery. After the operation, the cardiac output increased, and the symptoms of heart failure resolved. Follow-up evaluation at 1 mo after operation showed that the patient's cardiac function had restored to New York Heart Association standard Grade I heart failure, and normal growth was obtained.
CONCLUSION: Coronary artery revascularization and coronary artery bypass graft is an effective method for treating myocardial ischemia in children with KD complicated with giant coronary artery aneurysm . Nevertheless, some issues still need specific attention.

PMID: 33269284 [PubMed]

View on the web

Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature.

paythelady.612 shared this article with you from Inoreader
Related Articles

Fanconi-Bickel syndrome in an infant with cytomegalovirus infection: A case report and review of the literature.

World J Clin Cases. 2020 Nov 06;8(21):5467-5473

Authors: Xiong LJ, Jiang ML, Du LN, Yuan L, Xie XL

Abstract
BACKGROUND: Fanconi-Bickel syndrome (FBS) is a rare autosomal recessive disorder caused by mutation of the SLC2A2 gene, which encodes glucose transporter protein 2 (GLUT2).
CASE SUMMARY: We report a 7-mo-old girl with cytomegalovirus infection presenting hepatomegaly, jaundice, liver transaminase elevation, fasting hypoglycemia, hyperglycosuria, proteinuria, hypophosphatemia, rickets, and growth retardation. After prescription of ganciclovir, the levels of bilirubin and alanine aminotransferase decreased to normal, while she still had aggravating hepatomegaly and severe hyperglycosuria. Then, whole exome sequencing was conducted and revealed a homozygous c.416delC mutation in exon 4 of SLC2A2 inherited from her parents, which was predicted to change alanine 139 to valine (p.A139Vfs*3), indicating a diagnosis of FBS. During the follow-up, the entire laboratory test returned to normal with extra supplement of vitamin D and corn starch. Her weight increased to normal range at 3 years old without hepatomegaly. However, she still had short stature. Although there was heterogeneity between phenotype and genotype, Chinese children had typical clinical manifestations. No hot spot mutation or association between severity and mutations was found, but nonsense and missense mutations were more common. Data of long-term follow-up were rare, leading to insufficient assessment of the prognosis in Chinese children.
CONCLUSION: FBS is a rare genetic metabolic disease causing impaired glucose liver homeostasis and proximal renal tubular dysfunction. Results of urine and blood testing suggesting abnormal glucose metabolism could be the clues for FBS in neonates and infants. Genetic sequencing is indispensable for diagnosis. Since the diversity of disease severity, early identification and long-term follow-up could help improve patients' quality of life and decrease mortality.

PMID: 33269285 [PubMed]

View on the web

Benign symmetric lipomatosis (Madelung's disease) with concomitant incarcerated femoral hernia: A case report.

paythelady.612 shared this article with you from Inoreader
Related Articles

Benign symmetric lipomatosis (Madelung's disease) with concomitant incarcerated femoral hernia: A case report.

World J Clin Cases. 2020 Nov 06;8(21):5474-5479

Authors: Li B, Rang ZX, Weng JC, Xiong GZ, Dai XP

Abstract
BACKGROUND: Benign symmetric lipomatosis (BSL) was first described by Brodie in 1846 and defined as Madelung's disease by Madelung in 1888. At present, about 400 cases have been reported worldwide. Across these cases, surgical resection remains the recommended treatment. Here we report a case of neck BSL with concomitant thick fatty deposit in the inguinal region, which concealed the signs of a right incarcerated femoral hernia.
CASE SUMMARY: A 69-year-old male patient was admitted to our hospital with "abdominal pain, abdominal distension, nausea-vomiting and difficult defecation for half a month". Moreover, he had a mass in the right inguinal region for more than 10 years. An egg-sized neck mass also developed 15 years ago and had developed into a full neck enlargement 1 year later. In addition, the patient had a history of heavy alcohol consumption for more than 40 years. With the aid of computerized tomography scan, the patient was diagnosed with BSL and a low intestinal mechanical obstruction caused by a right inguinal incarcerated hernia. Under general anesthesia, right inguinal incarcerated femoral hernia loosening and tension-free hernia repair was performed. However, this patient did not receive BSL resection. After a 1-year follow-up, no recurrence of the right inguinal femoral hernia was found. Moreover, no increase in fat accumulation was found in the neck or other areas.
CONCLUSION: Secretive intraperitoneal fat increase may be difficult to detect, but a conservative treatment strategy can be adopted as long as it does not significantly affect the quality-of-life.

PMID: 33269286 [PubMed]

View on the web

Potential protection of indocyanine green on parathyroid gland function during near-infrared laparoscopic-assisted thyroidectomy: A case report and literature review.

paythelady.612 shared this article with you from Inoreader
Related Articles

Potential protection of indocyanine green on parathyroid gland function during near-infrared laparoscopic-assisted thyroidectomy: A case report and literature review.

World J Clin Cases. 2020 Nov 06;8(21):5480-5486

Authors: Peng SJ, Yang P, Dong YM, Yang L, Yang ZY, Hu XE, Bao GQ

Abstract
BACKGROUND: In recent decades, significant advances have been made in protecting the parathyroid glands and recurrent laryngeal nerves during thyro-idectomy. However, reliable and convenient technical means are still lacking. In this study, the reliability, safety and feasibility of near-infrared (NIR) laparoscopy-assisted thyroid lobectomy with isthmectomy and prophylactic central lymph node dissection (CLND) were reported.
CASE SUMMARY: A 63-year-old female patient with a free previous medical history, was admitted to our department due to multiple thyroid nodules. Ultrasonic examination suggested diffuse thyroid changes and one thyroid nodule in the right upper lobe with the largest diameter of 1.5 cm adjacent to the trachea and Breast Imaging Reporting and Data System grade 4B. Imaging examination of the neck showed no obvious enlarged lymph nodes. Fine needle aspiration biopsy suggested a papillary thyroid carcinoma. Combined with thyroid function examination, the patient was diagnosed with papillary thyroid carcinoma and Hashimoto's thyroiditis. Considering the risk of invading the capsule and the patient's extreme anxiety, a right thyroid lobectomy with isthmectomy and prophylactic CLND was planned. No significant abnormalities were found during preoperative examinations, except for an increased thyroid stimulating hormone level. The patient underwent NIR laparoscopy-assisted thy roid lobectomy with isthmectomy and prophylactic CLND. During the operation, two right parathyroid glands (PGs) adjacent to the thyroid gland capsule and the right recurrent laryngeal nerve (RLN) were examined by indocyanine green (ICG) fluorescence using a NIR fluorescence camera, and the PGs and RLN were reliably preserved. Considering the ICG-positive PG, prophylactic CLND was performed. The postoperative parathyroid hormone level was in the normal range and no significant hypocalcemia symptoms were observed.
CONCLUSION: During NIR laparoscopy-assisted thyroidectomy, ICG fluorescence may aid PG identification and protection.

PMID: 33269287 [PubMed]

View on the web