Pulmonary sarcoidosis is unlikely to resolve if it persists for greater than five years. A growing body of literature supports the involvement of the microbiome in sarcoidosis and a role for sex hormones in pulmonary fibrosis. Additionally, obesity is a risk factor for the development of sarcoidosis. Bariatric surgery is an effective treatment for obesity and can lead to microbial and endocrine changes. Here, we report the clinical improvement of longstanding pulmonary sarcoidosis following sleeve gastrectomy.

17α-hydroxylase deficiency (17OHD) is a rare disorder of secondary hypertension caused by congenital adrenal hyperplasia. In addition, co-occurrence of an adrenal tumor with 17OHD is extremely rare and easily misdiagnosed. A 33-year-old female with sicca syndrome, persistent hypertension, hypokalemia, and a left adrenal tumor was referred for confirmation of primary aldosteronism. However, the absence of secondary sexual characteristics, persistent growth beyond puberty, and laboratory data of low plasma renin activity, high aldosterone, low cortisol, low sex hormones, elevated adrenocorticotropic hormone, elevated luteinizing hormone, elevated follicle-stimulating hormone, and most importantly, decreased 17-hydroxypregnenolone, supported a diagnosis of 17OHD. We sequenced the CYP17A1 gene of the patient and her parents, which demonstrated genetic defects (D487-S,488-F489 deletion and Y329K418X). 17OHD was diagnosed. The left adrenal tumor was assessed, and a non-functional adrenal incidentaloma was confirmed; NP-59 adrenal cortical scintigraphy and adrenal venous sampling showed no functional activity and non-lateralization. Hormone replacements with estrogen, spironolactone, and prednisolone were given. The patient became more feminized and confident, and her hypertension was controlled. Early diagnosis and treatment of 17OHD not only can prevent delay development of secondary sexual characteristics but also help the patient maintain mental health and improve their quality of life. In addition, the concomitant presence of a left adrenal tumor makes misdiagnosis of a functional adenoma more likely, possibly causing unnecessary surgery and delay inappropriate treatment.

Background: McArdle Disease is a glycogen storage disease caused by an inherited deficiency in myophosphorylase, an enzyme that initiates the breakdown of muscle glycogen for glycolysis. Due to clinical variability and low prevalence, this disease is often delayed in diagnosis. Patients may present in early adulthood, suffering from exercise intolerance, muscle fatigue, myalgias, and potential end-organ damage from rhabdomyolysis and myoglobinuria. Diagnosis is confirmed with muscle biopsy showing an absence of myophosphorylase activity and can be confirmed with PYGM genetic sequencing. Treatment is preventative through dietary control with the use of complex carbohydrates and the ingestion of simple carbohydrates prior to aerobic activity.

Case presentation: A 19-year-old Caucasian male presented with a four-day history of rhabdomyolysis and acute kidney injury triggered by diving into cold water and swimming. The patient had developed muscle spasms and dyspnea, followed by a period of emesis, dysuria, and numbness in the lower extremities. Laboratory tests revealed creatinine kinase levels greater than 100,000 U/L and creatinine of 1.6 mg/dl. The patient had experienced a similar episode three months prior that occurred after sprinting, requiring hospitalization secondary to rhabdomyolysis. After eliminating reversible causes for rhabdomyolysis, there was high clinical suspicion for McArdle Disease, confirmed by muscle biopsy with absent phosphorylase activity. The patient was managed with parenteral fluids to treat the rhabdomyolysis and counseled on preventative dietary and exercise strategies.

Conclusions: The late onset of presentation of McArdle Disease should prompt consideration of metabolic myopathies in a systemic evaluation for cases of recurrent rhabdomyolysis.

External compression of the celiac artery by the median arcuate ligament is referred to as Dunbar syndrome, which is an eponym for celiac axis syndrome or median arcuate ligament syndrome. It is correlated with the archetypal triad of postprandial abdominal pain, weight loss of greater than 20 pounds, and an abdominal bruit on auscultation. This is often accompanied by epigastric tenderness, vomiting, and nausea. Given its lack of symptomatic specificity, Dunbar syndrome is a diagnosis of exclusion for unexplained episodic abdominal discomfort. Here, we present a unique case of a 24-year-old woman who experienced several months of chronic abdominal distress and an extensive workup prior to being diagnosed with Dunbar syndrome. The diagnosis was made via cross-sectional abdominal imaging and duplex ultrasound with respiratory maneuvers, which showed downward displacement of the celiac trunk, post-stenotic dilatation, and increased flow velocity on expiration. She underwent successful laparoscopic division of the median arcuate ligament which greatly alleviated her pain.

Cryptococcosis is an opportunistic fungal infection responsible for high morbidity and mortality in patients in immunosuppressive clinical conditions. The sites most affected by the hematogenous spread after the lungs are the central nervous system and the skin. The early diagnostic associated with a standard fungal therapy is important for decrease the clinical sequelae derived. We describe an unusual situation of disseminated cryptococcosis without pulmonary involvement in a patient with newly diagnosed human immunodeficiency syndrome with cutaneous lesions as initial markers of severity and precursory of cryptococcal meningitis. In this case, the authors describe a systemic approach to how an initial skin lesion is key to reach the diagnosis and perform an early treatment avoiding irreversible sequelae.

Amlodipine is a calcium channel blocker that is well known to be vasoselective, thereby having minimal effects in cardiac tissue. However, recent literature have reported cases of symptomatic bradycardia associated with amlodipine use. We present a case of an otherwise healthy 71-year-old male who was found to have symptomatic bradycardia while taking amlodipine. He underwent comprehensive evaluation including an exercise stress echocardiogram during which he demonstrated chronotropic competence. Amlodipine was discontinued with return of his heart rate to baseline levels after 24 hours. There is a very low reported incidence of amlodipine-induced bradycardia (0.89% of cases). Despite its infrequency, it is important to recognize amlodipine-induced bradycardia as simply discontinuing the drug will lead to complete resolution of symptoms. Failure to recognize this side effect may lead to unnecessary healthcare costs and negatively impact patient outcomes.