Metabolic Acidosis Due To Pyroglutamic Acid.

Metabolic acidosis is a common clinical disturbance due to increased plasma acidity caused by a primary decrease in serum HCO3- concentration. It is classified as normal or high anion gap metabolic acidosis. High anion gap metabolic acidosis can result from either a decrease in unmeasured cations (K+, Ca2+, Mg2+) or an increase in unmeasured anions (PO4 3-, albumin). However, other anions such as lactic acid or keto acids may cause this acid-base disorder. It can also result from renal failure and intoxication (salicylate, methanol, ethylene glycol), or more rarely, from massive rhabdomyolysis and pyroglutamic (5-oxoproline) acidemia. Acidemia due to pyroglutamic acid should be considered when no other aetiology is found. High anion gap metabolic acidosis is diagnosed in children with inherited defects in enzymes of the γ-glutamyl cycle. In adults, this disorder from pyroglutamic acid has been described in association with chronic acetaminophen misuse. We report a case of pyroglutamic acidosis in a woman with acute misuse of acetaminophen concurrent with chronic use. LEARNING POINT: Paracetamol is an easily available drug with potentially harmful consequences.Accumulation of pyroglutamic acid (5-oxoproline) may be a cause of high anion gap metabolic acidosis.Reporting cases of 5-oxoprolinemia acidosis contributes to better understanding of the condition.

A Challenging Diagnosis of Leg Ulcer.

Ischaemic ulcers of the lower limb can have several aethiopathological mechanisms. For instance, the uncommon Martorell hypertensive leg ulcer is an infrequent complication of long-term uncontrolled arterial hypertension and is largely ignored and underdiagnosed. The typical ulcer is on the lower leg, is extremely painful and presents in female patients over 60 years of age with cardiovascular risk factors, mainly severe arterial hypertension. The diagnosis is histological, with obliteration of the arterioles by arteriolosclerosis. In these cases, antihypertensive medication is the standard treatment. We describe the case of an African-American female patient with long-term hypertension who presented with a very painful leg ulcer. The diagnosis was complicated by the coexistence of more common causes of ulcer. Despite analgesic medicines, pain relief was only obtained with control of hypertension. A definite diagnosis was made following biopsy. In describing this diagnosis of an ischaemic leg ulcer, we highlight the need to consider the skin as a target organ of arterial hypertension. LEARNING POINTS: Martorell hypertensive leg ulcer is an underdiagnosed cutaneous lesion arising from long-term uncontrolled hypertension.The diagnosis is confirmed by histopathology.Standard treatment is adequate control of blood pressure.

An Unusual Case of Primary Retroperitoneal Germ Cell Tumour in a Young Man.

Some 2-5% of germ cell tumours are of extragonadal origin, with a retroperitoneal location being very rare. The majority of retroperitoneal germ cell tumours have metastasized from a testicular tumour. These tumours are diagnosed incidentally or symptomatically and nearly all present with high alpha-fetoprotein and lactate dehydrogenase levels. We describe the unusual case of a 31-year-old man with a yolk-sac, retroperitoneal germ cell tumour, with normal serum alpha-fetoprotein and lactate dehydrogenase levels, which has not previously been described. A testicular tumour was excluded by physical examination and additional tests. Our diagnosis was based on a high level of suspicion and histopathological results. As far as we know, this is the first case described with these characteristics. LEARNING POINTS: Extragonadal germ cell tumours are rare but can have fatal consequences if undiagnosed.The usual laboratory markers of the disease were absent in our patient.A high level of suspicion is required for diagnosis and close follow-up is required.