Anti-LGI1 Autoimmune Limbic Encephalitis: An Easy-To-Miss Diagnosis.

Background: Autoimmune limbic encephalitis (ALE) is a rare inflammatory disorder characterised by a subacute onset, usually within weeks. The presence of multiple neuropsychiatric symptoms such as seizures, short-term memory deficits, anxiety and depression often leads to misdiagnosis as another medical condition, contributing to poor prognosis and reduced long-term survival.

Case Description: A 60-year-old man, with no chronic illnesses, presented at the emergency department with daily episodes of palpitations, shivering, piloerection and a sense of impending doom lasting two months.

Hyperargininemia: A Rare Diagnosis in Adulthood.

Background: Hyperargininemia is a rare inherited metabolic disorder of the urea cycle with an autosomal recessive transmission. It occurs due to a deficiency of the enzyme arginase I and causes progressive neurological damage. Very few cases are diagnosed in adulthood, with the majority being diagnosed before the age of 4.

Screening for Pompe disease in a Portuguese high risk population.

Pompe disease is a rare metabolic disorder with available enzymatic replacement therapy. Contrasting with the classic infantile form, the others subtypes have a heterogeneous presentation that makes an early and accurate diagnosis difficult. We conducted a prospective, multicenter, observational study to identify undiagnosed patients.