scholarly journals Familial chylomicronemia syndrome: a case report

2021 ◽  
Vol 15 (1) ◽  
Author(s):  
Ammu Thampi Susheela ◽  
Padmesh Vadakapet ◽  
Lekshmi Pillai ◽  
Susheela Thampi

Abstract Background Familial chylomicronemia is an extremely rare disease. Lipoprotein lipase deficiency, lipoprotein defect or lipoprotein receptor defect are the main genetic causes of familial chylomicronemia. Case presentation We report a rare case of hypertriglyceridemia which was diagnosed at 24 days after birth. A newborn south east Asian baby born for G3P2A1 mother was presented with hematuria at 24 days at the hospital. The patient's family history is significant for pink blood in an elder sibling who died within a few months of birth without a proper diagnosis. Physical examination was not significant for any findings. Urinalysis revealed numerous RBC in the urine. Blood draw to perform renal function test revealed a characteristic pink blood. Baby’s blood was normal and red in color at the time of birth. During the present visit, although most of the blood test were not able to be carried out by the regular laboratory instruments, the patient’s lipid profile was alarmingly high with triglyceride levels over 4000 mg/dL. Due to a very high triglyceride level in a neonate and a significant familial history, a genetic cause of hypertriglyceridemia is suspected. Upon diagnosis, baby was discontinued of breast feeding completely and was given a special diet devoid of triglyceride and containing medium chain fatty acid diet and was also started with fenofibrate. After a month and a half, follow up tests were conducted which showed the triglyceride level was reduced to 1300 and a reversal of the blood color from pink to red. Since the imported diet was extremely expensive for the family, the patient was put on skimmed milk with medium-chain triglyceride (MCT) oil. With 6 weeks of treatment, baby’s condition has improved and is thriving well. Conclusions Our case reports an extremely rare and fatal condition and illustrated the significance of timely diagnosis and intervention for saving the life of the baby.

2017 ◽  
Vol 45 (3) ◽  
pp. 172-174
Author(s):  
Eva Rani Nandi ◽  
Fatema Ashraf ◽  
Nilofar Yasmin ◽  
Hasina Begum

The single fetal death in multiple pregnancy is not rare. Death of one fetus in multiple pregnancy increases the risk of mortality and morbidity of the surviving fetus. This might pose management challenge to the obstetrician. It is a cause of great concern and psychological stress to the parents. Proper diagnosis and intervention in appropriate time can improve the maternal and neonatal outcome. Adequate counseling, psychological support and close follow up are mandatory. There are potential complications to the mother and the surviving twin.Bangladesh Med J. 2016 Sep; 45 (3): 172-174


2007 ◽  
Vol 135 (1-2) ◽  
pp. 88-91 ◽  
Author(s):  
Milos Velinovic ◽  
Mile Vranes ◽  
Mladen Kocica ◽  
Petar Djukic ◽  
Aleksandar Mikic ◽  
...  

Chylopericardium refers to existing communication between the pericardial sac and the thoracic duct carrying the chyle. The objective of our report was to highlight the specificity of diagnosis and treatment of this rare but tedious condition through the analysis of two case reports. Male patient, aged 63 years, with chylopericardium was diagnosed perioperatively (implantation of artificial aortic - St. Jude No 21 and mitral valve - St. Jude No 29). Etiology of pericardial effusion was established by Sudan III staining of punctate specimen obtained by subxiphoid pericardial puncture. Probable cause of chylopericardium was the lesion of ductus thoracicus during cross-clamping of the superior caval vein with a Cooley clamp. Initial treatment included diet rich in medium-chain triglycerides which resulted in resolution of the effusion. During five-year follow-up, there were no recurrences of pericardial effusion. The second patient was female, 21 years old, with chylopericardium after partial pericardiectomy performed because of the chronic severely symptomatic pericardial effusion, resistant to other forms of treatment. Pericardiocentesis provided 650 ml of yellowish fluid with a high concentration of cholesterol (3.2 mmol/l), triglycerides (16.6 mmol/l), and proteins (64.7 g/l), which verified chylopericardium, most probably as a consequence of the lesion of ductus thoracicus during partial pericardiectomy. Diet rich in medium-chain triglycerides failed to decrease the effusion, after two weeks of treatment (daily secretion 250-350 ml). Lymphography revealed lesion of ductus thoracicus, most probably at Th9/Th10 level, with no direct visualization of extravasal accumulation of contrast media. Surgical ligation of ductus thoracicus was performed through the right thoracotomy. However, postoperative secretion increased to 1000 ml/day. Patient underwent redo surgery comprising the ligation of lymphatic vessels, guided by extravasation of intraoperatively iwected methylene-blue indicator. During one-year follow-up, there were no recurrences of pericardial effusion. In conclusion, intraoperative lymphography significantly contributed to successful surgical treatment of patients with chylopericardium.


2018 ◽  
Vol 3 (2) ◽  

There have been a few case reports of head injury leading to brain tumour development in the same region as the brain injury. Here we report a case where the patient suffered a severe head injury with contusion. He recovered clinically with conservative management. Follow up Computed Tomography scan of the brain a month later showed complete resolution of the lesion. He subsequently developed malignant brain tumour in the same region as the original contusion within a very short period of 15 months. Head injury patients need close follow up especially when severe. The link between severity of head injury and malignant brain tumour development needs further evaluation. Role of anti-inflammatory agents for prevention of post traumatic brain tumours needs further exploration.


2019 ◽  
Vol 24 (5) ◽  
pp. 558-571 ◽  
Author(s):  
Kartik Bhatia ◽  
Hans Kortman ◽  
Christopher Blair ◽  
Geoffrey Parker ◽  
David Brunacci ◽  
...  

OBJECTIVEThe role of mechanical thrombectomy in pediatric acute ischemic stroke is uncertain, despite extensive evidence of benefit in adults. The existing literature consists of several recent small single-arm cohort studies, as well as multiple prior small case series and case reports. Published reports of pediatric cases have increased markedly since 2015, after the publication of the positive trials in adults. The recent AHA/ASA Scientific Statement on this issue was informed predominantly by pre-2015 case reports and identified several knowledge gaps, including how young a child may undergo thrombectomy. A repeat systematic review and meta-analysis is warranted to help guide therapeutic decisions and address gaps in knowledge.METHODSUsing PRISMA-IPD guidelines, the authors performed a systematic review of the literature from 1999 to April 2019 and individual patient data meta-analysis, with 2 independent reviewers. An additional series of 3 cases in adolescent males from one of the authors’ centers was also included. The primary outcomes were the rate of good long-term (mRS score 0–2 at final follow-up) and short-term (reduction in NIHSS score by ≥ 8 points or NIHSS score 0–1 at up to 24 hours post-thrombectomy) neurological outcomes following mechanical thrombectomy for acute ischemic stroke in patients < 18 years of age. The secondary outcome was the rate of successful angiographic recanalization (mTICI score 2b/3).RESULTSThe authors’ review yielded 113 cases of mechanical thrombectomy in 110 pediatric patients. Although complete follow-up data are not available for all patients, 87 of 96 (90.6%) had good long-term neurological outcomes (mRS score 0–2), 55 of 79 (69.6%) had good short-term neurological outcomes, and 86 of 98 (87.8%) had successful angiographic recanalization (mTICI score 2b/3). Death occurred in 2 patients and symptomatic intracranial hemorrhage in 1 patient. Sixteen published thrombectomy cases were identified in children < 5 years of age.CONCLUSIONSMechanical thrombectomy may be considered for acute ischemic stroke due to large vessel occlusion (ICA terminus, M1, basilar artery) in patients aged 1–18 years (Level C evidence; Class IIb recommendation). The existing evidence base is likely affected by selection and publication bias. A prospective multinational registry is recommended as the next investigative step.


2018 ◽  
Vol 64 (6) ◽  
pp. 708-715
Author(s):  
Natalya Severskaya ◽  
Andrey Rodichev ◽  
Aleksey Ilin ◽  
Dmitriy Semin ◽  
Pavel Isaev ◽  
...  

Struma ovarii is a rare variant of the mature ovarian teratoma composed of more than 50% thyroid tissue. Thyroid type carcinoma can occur in 5% of struma ovarii. Given the rarity of this pathology, as well as the different clinical course, approaches to the treatment of this disease are controversial. The proposed approaches to treatment vary from ovarian resection to total hysterectomy with bilateral salpingo-oophorectomy and adjuvant therapy. We present here 6 case reports of thyroid type carcinoma in struma ovarii and outcome of patients treated in our clinic. All patients had pelvic surgery of different extent, followed by thyroidectomy and radioiodine therapy. The incidence of metastasis is 67% (4/6), 2 - intraperitoneal metas-tases, 2 - bone metastases. Among patients with metastases, 2 have reached a complete response, one with a good response continues treatment, one had progression. The follow-up period is 1 to 15 years (median 4 years). One patient with follicular carcinoma died of progression 8 years after diagnosis. The remaining patients are alive.


Author(s):  
I. Joa ◽  
J. O. Johannessen ◽  
K. S. Heiervang ◽  
A. A. Sviland ◽  
H. A. Nordin ◽  
...  

Abstract This study examined psychometric properties and feasibility of the Family Psychoeducation (FPE) Fidelity Scale. Fidelity assessors conducted reviews using the FPE fidelity scale four times over 18 months at five sites in Norway. After completing fidelity reviews, assessors rated feasibility of the fidelity review process. The FPE fidelity scale showed excellent interrater reliability (.99), interrater item agreement (88%), and internal consistency (mean = .84 across four time points). By the 18-month follow-up, all five sites increased fidelity and three reached adequate fidelity. Fidelity assessors rated feasibility as excellent. The FPE fidelity scale has good psychometric properties and is feasible for evaluating the implementation of FPE programs. Trial registration ClinicalTrials.gov Identifier: NCT03271242.


2020 ◽  
Vol 26 (Supplement_1) ◽  
pp. S72-S72
Author(s):  
Ahmed Elmoursi ◽  
Courtney Perry ◽  
Terrence Barrett

Abstract Background Stricturing Crohn’s disease (CD) constitutes a severe phenotype often associated with a high degree of morbidity (3). Surgical resection is first-line therapy for symptomatic strictures, but most patients relapse without subsequent medical therapy (4–5). Biologics are the mainstay for inducing and maintaining remission, but some cases are refractory despite maximum dosage of therapy. Reports of dual biological therapy (DBT) in refractory, stricturing CD are sparse, and prior case reports document only clinical remission (1). To contribute further knowledge regarding the use of DBT in stricturing CD, we present the case of a refractory CD patient who achieved deep remission with ustekinumab and vedolizumab. Case Presentation A 35 year old non-smoking, Caucasian male was referred to our clinic in 2014 for refractory CD complicated by multiple strictures. Prior to establishing care with us, he received two jejunal resections and a sigmoid resection. Previously failed therapies included azathioprine with infliximab, adalimumab, and certolizumab. He continued to progress under our care despite combination methotrexate/certolizumab, as well as methotrexate/golimumab. He underwent proctocolectomy with end ileostomy in 2015 and initiated vedolizumab q8weeks post-operatively. He reoccurred in 2018, when he presented with an ulcerated ileal stricture. He was switched from vedolizumab to ustekinumab q8weeks and placed on prednisone, but continued to progress, developing significant hematochezia requiring hospitalization and blood transfusions. Ileoscopy performed during hospital admission confirmed severe, ulcerating disease in the ileum with stricture. Ustekinumab dosing was increased to q4weeks, azathioprine was initiated, and he underwent stricturoplasty. Follow-up ileoscopy three months later revealed two ulcers in the neo- TI (Figure 1). Vedolizumab q8weeks was initiated in addition to ustekinumab q4weeks and azathioprine 125mg. After four months on this regimen the patient felt better, but follow-up ileoscopy showed two persistent ulcers in the neo-TI. Vedolizumab dosing interval was increased to q4weeks. After four months, subsequent ileoscopy demonstrated normal neo-TI (Figure 2). Histologic evaluation of biopsies confirmed deep remission of crohn’s disease. No adverse side effects have occurred with maximum doses of both ustekinumab and vedolizumab combination therapy. Discussion This case supports both the safety and efficacy of ustekinumab and vedolizumab dual biologic therapy for treatment of severe, refractory Crohn’s disease. While there are reports of DBT inducing clinical remission, this case supports efficacy for vedolizumab and ustekinumab combination therapy to induce deep histologic remission. Large practical clinical trials are needed to better investigate the safety and efficacy of DBT with vedolizumab and ustekinumab, but our case suggests this combination may be a safe and efficacious therapy for refractory CD patients.


Foods ◽  
2021 ◽  
Vol 10 (3) ◽  
pp. 500
Author(s):  
Zala Gombač ◽  
Ilja Gasan Osojnik Črnivec ◽  
Mihaela Skrt ◽  
Katja Istenič ◽  
Andreja Knez Knafelj ◽  
...  

Lutein is a challenging compound to incorporate into food, as it is poorly soluble and unstable in aqueous solutions. In this study, the aim was to prepare stable encapsulates of lutein and lutein esters using feasible and straightforward techniques. Fine suspensions based on polyoxyethylene sorbitan monooleate and medium-chain triglyceride oil micelle-like units with 3.45% lutein esters or 1.9% lutein equivalents provided high encapsulation efficiencies of 79% and 83%, respectively. Lutein encapsulated in fine suspensions showed superior stability, as 86% was retained within the formulation over 250 days at 25 °C in the dark. Under the same storage conditions, only 38% of lutein remained in corresponding formulations. Higher encapsulation efficiencies were achieved with lecithin emulsions, at up to 99.3% for formulations with lutein, and up to 91.4% with lutein esters. In lecithin emulsions that were stored for 250 days, 17% and 80% of lutein and lutein esters, respectively, were retained within the formulations.


2019 ◽  
Vol 25 (1) ◽  
Author(s):  
Danielle Whiting ◽  
Ian Rudd ◽  
Amit Goel ◽  
Seshadri Sriprasad ◽  
Sanjeev Madaan

Abstract Background Angiomyolipomas are rare mesenchymal tumours arising from the perivascular epithelioid cells consisting of variable amounts of adipose, thick-walled blood vessels and smooth muscle cells. These benign tumours commonly occur in the kidney with only a few case reports of adrenal angiomyolipomas which have the potential to reach a large size and haemorrhage. Case presentation A 45-year-old lady presented with a 3-week history of right loin pain, nausea and vomiting. A CT scan revealed a right adrenal angiomyolipoma measuring 6.3 × 6.8 cm with associated haemorrhage. The lesion was successfully treated with right open adrenalectomy, and histology confirmed the diagnosis of adrenal angiomyolipoma. The patient remained well with no evidence of recurrence at the 36-month follow-up. Conclusion Adrenal angiomyolipomas are rare benign tumours that have the ability to reach a large size and potential to bleed. Here, we report the second case of spontaneous haemorrhage in an adrenal angiomyolipoma, which was successfully treated with open adrenalectomy.


Sign in / Sign up

Export Citation Format

Share Document