informer

Idiopathic systemic capillary leak syndrome (ISCLS) is a rare disease characterized by recurrent episodes of acute life-threatening attacks of shock, hemoconcentration, and hypoalbuminemia. Increase in capillary permeability results in reversible plasma movement into the interstitial spaces followed by appearance of related symptoms or complications, including renal failure. This condition can be potentially life-threatening; however, it is easily misdiagnosed.

A 47-year-old man with no previous medical history presented to the emergency department after experiencing general weakness and abdominal pain. He develops hypovolemic shock within 3 h of presentation and initial laboratory tests showed hemoconcentration, hypoalbuminemia and acute kidney injury. Following vigorous fluid therapy and supportive care, the patient recovers, but a similar episode recurrs after 4 months without any specific trigger. Based on the combined clinical manifestations and laboratory findings of both the attacks, he is diagnosed with ISCLS. Symptomatic relief is achieved via oxygen supplementation and massive volume replacement using normal saline and the patient is prescribed bambuterol 10 mg and theophylline 400 mg once-a-day. He is discharged from the hospital on day 5 of hospitalization. Thereafter, the patient is being followed for 5 years without any symptoms or recurrence of ISCLS even in the situation of COVID-19 infection.

ISCLS is an extremely infrequent and commonly misdiagnosed disease. However, early diagnosis, treatment and prophylaxis through accumulated clinical data can prevent ISCLS recurrence and the development of related fatal complications. Therefore, clinicians need to be well aware of the variety of clinical characteristics and treatment options of this disease. Read the full article here.

Advances in the study of ultra-rare genetic conditions are leading to the development of targeted interventions developed for single or very small numbers of patients. Due to the experimental but also highly individualized nature of these interventions, they are difficult to classify cleanly as either research or clinical care. The goal of this report is to understand how parents, IRB members, and clinical geneticists familiar with individualized genetic interventions conceptualize these activities and their implications for the relationship between research and clinical care.

In this report, qualitative, semi-structured interviews with 28 parents, IRB members, and clinical geneticists are conducted, and themes from those interviews through content analysis are derived.

Individualized interventions aimed at one or few patients reveal the limitations of a binary framing of research and clinical care. As a hybrid set of activities, individualized interventions suggest the need for flexibility and new frameworks that acknowledge these activities across the spectrum of research and clinical care. Read the full article here.

Henoch-Schönlein purpura (HSP) is the most common vasculitis in childhood, presenting with purpura, predominantly of the lower extremities and occasionally with renal involvement as well. Although associated with childhood, HSP, although rarely, can also develop in adults as well. It this report a patient in his sixties is presented, presenting with a myriad of rash units on his lower extremities, including bullous ones, and a constellation of chronic kidney failure. Skin and renal biopsy specimens reveal morphological changes and immune depositions representative of HSP. Despite treatment, the patient’s kidney failure slowly progresses. Although rare, the bullous form of HSP can be viewed as a more aggressive form of the disease, as seen by the presentation constellation and rapid progression in this case. Read the full article here.

Myelin oligodendrocyte glycoprotein (MOG)-associated disease (MOGAD) is a rare, antibody-mediated inflammatory demyelinating disorder of the central nervous system (CNS) that has varying phenotypes. A rare case of a nine-year-old girl who presents with a drop in her academic performance and right-sided Epilepsia partialis continua is reported. Magnetic resonance imaging (MRI) of the brain detected evidence for unilateral (left) cortical encephalitis with juxtacortical edema. An electroencephalogram revealed a hemi-generalized poly spike and wave discharges in the left hemisphere, several of which correlated with myoclonic jerks. The cerebrospinal fluid (CSF) analysis was normal. Autoimmune workup resulted in a positive serum MOG-immunoglobulin G (IgG), which confirmed the diagnosis. The child showed an excellent clinical response to intravenous methylprednisolone and intravenous immunoglobulins therapy. Read the full article here.