Non-specific gastrointestinal features: Could it be Fabry disease?

Could it be Lyme neuroborreliosis?

Sometimes when you hear hoof beats, it could be a zebra: consider the diagnosis of Fabry disease

BACKGROUND Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of the enzyme α-galactosidase A. Fabry disease is present in 4-5% of men with unexplained left ventricular hypertrophy or cryptogenic stroke. As enzyme replacement therapy is now more widely available, it is important to recognise the signs and symptoms of the disease and establish the diagnosis so...

Gastrointestinal Symptoms of Patients with Fabry Disease

In order to characterize gastrointestinal (GI) symptoms of 50 patients with Fabry disease (FD) (22 M; age range: 4-70 y; 35 adults and 15 children), validated questionnaires of GI symptoms were used to diagnose the functional gastrointestinal disorders (FGIDs) of the patients with GI symptoms (33/50 (66%); 25/35 adults and 8/15 children) according to Rome III criteria. In 16/25 of these adults ...

Could it be a secondary hypertension?

• No family history of hypertension in a thin child • Age younger than 10 years and prepubertal stage • Acute rise in blood pressure previously normal • Severe hypertension (SBP/DBP ≥ 99th percentile plus 5 mmHg) • Mild hypertension (SBP/DBP ≥ 95th percentile plus 5 mmHg) in systemic disease • Nocturnal hypertension, reduced nocturnal dipping or diastolic hypertension at 24-hour BP monitoring •...

Chronic heel pain: It could be tuberculosis.

INTRODUCTION Heel pain is a common presentation at a primary care setting. The majority of these cases are benign and self limiting in nature. Common differential diagnoses include plantar fasciitis and peroneal muscle sprains. However, certain conditions-if undetected early-may cause significant morbidity to the patient. A high index of suspicion and early referral for further investigations a...