ABSTRACT
Autoimmune polyglandular syndrome (APS) is a rare group of immune-mediated disorders, which are typically, but not exclusively, related to the presence of endocrine abnormalities. APS type 2 is the most common subtype of the syndrome, more often observed in adulthood, with a characteristic clinical triad, which includes adrenal insufficiency, autoimmune thyroiditis and diabetes mellitus type 1. Adrenal insufficiency is an essential and necessary clinical manifestation of the syndrome, as it is observed in 100 % of the cases, while it can be accompanied by hyperchloremic metabolic acidosis. Herein, we present a 23 years-old patient with adrenal insufficiency in the context of autoimmune polyglandular syndrome type 2 with coexisting autoimmune thyroiditis and metabolic acidosis with an increased anion gap attributed to prolonged malnutrition. Additionally, we analyze the main clinical features of adrenal insufficiency, which is a central component of autoimmune polyglandular syndrome; highlight characteristics that differentiate the major APS subtypes.
ABSTRACT
A 27-year-old White man presented with a recent onset of malaise, chills, night sweats, sore throat with difficulty swallowing, and a skin rash affecting his trunk, limbs, and genitalia. His right eye was red with watery discharge and there was a dome-shaped nodule on his lower eyelid. What would you do next?
Subject(s)
Eyelids , Male , HumansABSTRACT
Choroideremia is an X-linked recessive retinal degeneration predominantly affecting hemizygous males. It is caused by mutations in the CHM gene that encodes the Rab escort protein-1. Characteristic features include early nyctalopia followed by progressive constriction of peripheral visual fields and sparing of the central vision until late in life with a distinct fundoscopic appearance. We present the case of a 17-year-old male with a c.282delT in exon 4 of CHM that has not previously been reported. Phenotypically this patient presented with an atypical choroideremia phenotype of early central macular degeneration in addition to the classic peripheral fundus characteristic findings.
Subject(s)
Choroid/pathology , Choroideremia/complications , Retinal Degeneration/etiology , Visual Acuity , Adaptor Proteins, Signal Transducing/genetics , Adaptor Proteins, Signal Transducing/metabolism , Adolescent , Choroideremia/diagnosis , Choroideremia/genetics , DNA/genetics , Diagnosis, Differential , Humans , Male , Mutation , Pedigree , Phenotype , Retinal Degeneration/diagnosis , Tomography, Optical , Tomography, Optical Coherence/methodsABSTRACT
Steroid-induced diabetes mellitus (SIDM) poses a unique challenge for the physician and ophthalmologist when faced with chronic recurrent uveitis controlled only with systemic steroids. We report a unique case where SIDM improved significantly following administration of intravitreal dexamethasone. A 53-year-old female had a history of recurrent idiopathic anterior uveitis that required oral steroids for control despite orbital floor steroids and systemic immunosuppression. After 9 years of oral steroid treatment she was diagnosed with SIDM necessitating insulin therapy. Following intravitreal dexamethasone implant, her oral steroid use was tapered with subsequent improvement in her diabetes and eventual cessation of insulin. In uveitis, steroid sparing immunosuppression may be used to minimize systemic steroid exposure. In this case, we demonstrated that an intravitreal dexamethasone implant achieved this goal. We recommend considering the use of such implants in patients with recurrent uveitis, particularly when there are significant steroid-induced side effects.
