Journal of Clinical Case Reports

X-linked Adrenoleukodystrophy (X-ALD) is a rare genetic disorder responsible of accumulation of Very Long Chain Fatty Acids (VLCFAs) which accumulate in the central nervous system, adrenal cortex and testes. Various mutations have been identified, the X-ALD mutation database catalogs 2707 (last updated on 04-03-2019) with 61% of missense mutations. This paper reports on a first case of AMN with R152C mutation in ABCD1 gene.

Purpose: Limb ischemic necrosis is a very rare but severe condition that generally leads to amputation in septic shock. Our aim is to review the risk factors for development of limb ischemic necrosis in ICU patients requiring vasopressor support and draw the attention of doctors.

Methods: A retrospective review of clinical information and photographs in 3 septic shock patients, including APACHII scores, dose of norepinephrine, time of ischemic necrosis and final outcome from July 2001 to June 2020 at a single intensive care unit

Results: All of the three patients had high APACHE II score, obvious coagulation dysfunction and severe hypotension on admission; In order to maintain the target blood pressure, the dose of norepinephrine range from 0.36 to 7.27 μg/kg/min; Case 2 and 3 had a higher average dose and length of NE treatment when comparing to case 1. Finally, case 1 survived but undergone amputation, case 2 and case 3 died.

Conclusion: Septic shock with limb ischemic necrosis is a very serious complication and may indicate a poor prognosis. As an ICU doctor, we should pay attention to the complication in our clinical practice which can greatly affect patient’s quality of later life.

Hemoperitoneum with an adnexal mass in reproductive age group women points to a life-threatening differential diagnosis of a ruptured ectopic pregnancy. Rarely isolated tubal pathology such tubal torsion with hematosalpinx may mimic such a picture and the diagnosis is difficult in hemodynamically compromised patients. This is a case report of isolated hematosalpinx without torsion in early pregnancy which was histologically confirmed following surgical management.

Background: This case report emphasises the importance of differential diagnosis in dilated cardiomyopathy and the frequent misdiagnosis of congestive heart failure in the COVID-19 era.

Case presentation: A patient with Polycythaemia Vera (PV) and no history of cardiac disease developed dyspnoea and radiological signs of pulmonary congestion. He was then treated as a suspected COVID-19 patient. However, echocardiogram showed biventricular dysfunction and severely reduced Left Ventricular Ejection Fraction (LVEF) (22%) without regional wall motion abnormalities. We hypothesised drug-related cardiotoxicity.

Conclusion: Particular attention should be paid to patient admitted to Emergency Department (ED) with respiratory symptoms and clinical signs of congestion in order to correctly differentiate COVID-19 related respiratory disease from cardiogenic dyspnoea. Cardiotoxicity should always be ruled out in dilated-hypokinetic cardiomyopathy.