W “ hat is time?” asked Saint Augustine in his Confessions, “When someone asks me, I know. But as soon as someone comes to question me on this matter, and I try to explain, I don’t know anymore.” A physician asked to define an autoimmune disease has a similar sense of frustration. For the perplexed, three features of autoimmune diseases, derived from Witebsky’s postulates, might help: 1) the pr...

Clinical diversity is a common phenomenon in lysosomal storage diseases and has led to the introduction of clinical subtypes. The natural course of Pompe disease is primarily dictated by the type of mutations in the acid alpha-glucosidase gene (GAA) or rather by the residual enzyme activity of acid alphaglucosidase resulting from the combination of the mutated allelic products. Thirty per cent ...

OBJECTIVE To report new manifestations of cerebral folate deficiency, a rare metabolic autoimmune syndrome,in an adult. DESIGN Case report. SETTING University teaching hospital. PATIENT A 58-year-old woman with progressive memory loss and myoclonus presented for medical attention. Results of cerebral spinal fluid analysis showed low levels of tetrahydrobiopterin and 5-methyltetrahydrofola...

It is often a challenge and a dilemma for clinicians encountering patients with pyrexia of unknown origin. Numerous tests performed to determine the underlying cause often give inconclusive results. We present a 52-year-old man with undulating fever for more than 10 months with persistent hyperferritinaemia, and negative immunological and serological markers. Despite corticosteroids, disease mo...

BACKGROUND Little is known about adult-onset opsoclonus-myoclonus syndrome (OMS) outside of individual case reports. OBJECTIVE To describe adult-onset OMS. DESIGN Review of medical records (January 1, 1990, through December 31, 2011), prospective telephone surveillance, and literature review (January 1, 1967, through December 31, 2011). SETTING Department of Neurology, Mayo Clinic, Rochester, M...

Adult-onset Still disease (AOSD) is an uncommon clinical entity that predominantly affects young adults. One of the most common presentations of the disease is fever of unknown origin. Early diagnosis can be difficult because fever of unknown origin is more commonly seen with other conditions such as malignancy or infection. Ambiguity in presentation and lack of serologic markers make diagnosis...

Pityriasis rubra pilaris (PRP) has always been an intriguing topic ever since its inception. It is a group of chronic disorders characterized by reddish orange plaques with pityriasiform scaling showing follicular keratoses, palmoplantar keratoderma, and sometimes, erythroderma. It occurs all over the world but with racial variations. Its incidence might vary and the age at onset, behavior, cli...