Beri-Beri and Wernicke Encephalopathy in a Thirty-Year-Old Male.

A 30-year-old Turkish male was found lethargic and surrounded by vomit. At the hospital, severe hypernatremic dehydration and acute kidney failure were evident. His conscious level improved with fluid resuscitation. A differential diagnosis of altered mental status was considered. A complete clinical triad of Wernicke encephalopathy (WE), supported by MRI findings, was compatible with thiamine deficiency. Previous bariatric surgery was later confirmed. Despite no clinical signs of heart failure, a high level of NT-proBNP (N-terminal prohormone brain natriuretic peptide) and a dilated, hypokinetic myocardiopathy detected on the echocardiogram led us to assume beri-beri heart disease. High-dose intravenous thiamine, ACE (angiotensin conversing enzyme) inhibitors, beta-blockers, and physical therapy were initiated with remarkable improvement in his clinical condition.

Familial Amyloid Polyneuropathy Misdiagnosed as Systemic Sclerosis.

We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT). Clinical re-evaluation when assessing eligibility for the procedure led to the alternative diagnosis of familial amyloid polyneuropathy (FAP). We discuss the clinical presentations of FAP and SSc, focusing on their overlapping and distinguishing features. We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling. LEARNING POINTS: It is important to review diagnoses, especially when the clinical course is atypical.Cutaneous involvement is a commonly unrecognized feature of familial amyloid polyneuropathy.Hereditary conditions should be included in the differential diagnosis of multisystemic diseases, even in the absence of a family history.