Log in with your email address username.


[Case Report] Adult-onset renal thrombotic microangiopathy and pulmonary arterial hypertension in cobalamin C deficiency

An 18-year-old man presented in January, 2015, with 48 h of worsening dyspnoea and 1 month of lower limb oedema. He had had language retardation diagnosed at age 3 years, attributed to an emotional shock after the death of his brother, but he had had no specific investigations. On admission he was apyrexial with blood pressure 210/100 mm Hg and bilateral basal crackles on auscultation of the chest. Urine dipstick showed microscopic haematuria and proteinuria. Investigations (appendix) showed haemolytic anaemia and mild thrombocytopenia, and renal failure with nephrotic syndrome and haematuria.