The rarity of gout in children prompts the following report of two cases, both apparently 'primary' in nature. On occasion juvenile gout may result from a demonstrable cause, falling into the 'secondary' category. In secondary gout both blood and urinary levels of uric acid tend to be higher than in primary gout, and the ratio of renal clearance of uric acid to glomerular filtration rate is usu...

In recent years, mouse models for human metabolic diseases have become commonplace because the information gained from in vivo study of biochemical pathways is invaluable, and many metabolic diseases are relatively easy to recreate in mice through gene knockout technology in embryonic stem cells. In certain cases, however, the knockout mice may reproduce only some of the human disease phenotype...

Defining neurogenetic phenotypes (or how to compare needles in haystacks) Accurate diagnosis is the foundation of clinical neurology, providing both the physician and the patient with a guide to the future, hopefully leading to a treatment, and sometimes pointing towards a cure. Unlike many other clinical disciplines, the day-today practice of neurology involves a pantheon of symptoms and long ...

Lesch-Nyhan Syndrome (LNS) is a neurodevelopmental disorder caused by mutations in the gene encoding the purine metabolic enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). This syndrome is characterized by an array of severe neurological impairments that in part originate from striatal dysfunctions. However, the molecular and cellular mechanisms underlying these dysfunctions remain ...

To the Editor: We report a case of Mardini-Nyhan association (1–4). Our patient was a preterm (34weeks gestation), small for gestational age, Omani, female neonate (birth weight 1150 g) born to non-consanguineous, elderly parents. She developed respiratory distress 48 h after birth. Physical examination revealed growth retardation, dysmorphic features and a small right thumb; tachypnea, chest r...