Chanarin-Dorfman Syndrome (CDS): A Rare Lipid Metabolism Disorder.

Chanarin-Dorfman syndrome (CDS) is a rare medical condition that is inherited in an autosomal recessive pattern. In CDS, a comparative gene identification-58 gene mutation causes the accumulation of triglycerides in neutrophils, which can be observed as vacuoles on a peripheral smear. CDS patients present with a characteristic dermatological finding, ichthyosis, which is a non-bullous white scaling of the skin. Here, we describe a case report of a one-year-old boy who presented to the pediatric outpatient department (OPD) with chief complaints of peeling of the skin and ballooning of the abdomen since birth. Our patient had achieved all the developmental milestones pertaining to his age. Genetic testing was positive for heterozygous alleles in both parents.

Long-Term Usage of Oral Glucocorticoids Leading to Adrenal Insufficiency: A Comprehensive Review of the Literature.

Systemic glucocorticoid therapy is used worldwide by one to three percent of the general population and 0.5-1.8% on long-term oral glucocorticoid use. It is widely used in conditions such as inflammation, autoimmune diseases, and cancer to inhibit inflammatory responses. One of the possible undesirable side effects of exogenous corticosteroid treatment is adrenal suppression upon discontinuation of the medication and adrenal insufficiency after utilizing the supraphysiologic doses for more than one month. To prevent patients from the unwanted signs and symptoms of adrenal insufficiency, including fatigue, gastrointestinal upset, anorexia/weight loss, etc., better management of the quantity and frequency of exogenous corticosteroid use, as well as better education before starting its use, is needed. For patients actively on exogenous corticosteroids, a close follow-up must be in place to avoid adrenal suppression after the eventual discontinuation of their use. This review article summarizes the important studies to date on this subject, especially oral glucocorticoid use, and analyzes risks such as dose, duration of exposure, and comorbidities of adrenal insufficiency associated with oral glucocorticoid use. We comprehensively include information on those with primary adrenal insufficiency and pediatric patients, hoping to provide better insight and clinical reference.

An Unusual Progression of Membranous Nephropathy.

Membranous glomerulopathy is one of the commonest causes of nephrotic syndrome and chronic renal insufficiency in adults. There has been documented evidence of a poorer prognosis with factors such as male gender, advanced age, increased blood pressure and persistent loss of proteins in the urine, but the overall prognosis of this condition is excellent. Herein, we present the case of a 20-year-old female patient who was diagnosed with primary membranous nephropathy. Normally, cases of primary membranous nephropathy have good outcomes with conservative management and immunosuppressants but our case had a worsening course and a delayed response even with immunosuppressive treatment. This case has been recorded due to its unusual presentation, unnatural course, and outcomes contrary to what is seen in routine clinical practice.