Pyridoxine Therapy: Not Just the Dose, the Duration Matters Too.

Pyridoxine-dependent epilepsy (PDE) (OMIM 266100) is an autosomal recessive disorder of lysine metabolism secondary to antiquitin deficiency. The prototypical presentation is intractable neonatal seizures that do not respond to conventional antiseizure medication but are well controlled by pyridoxine supplementation. Atypical forms account for one-third of the PDE spectrum and may escape early diagnosis. The common atypical presentations include the prenatal onset of seizures, seizures onset as delayed as 3 years of age, autism, arrested hydrocephalus, and fetal ventriculomegaly. Herein, we describe a 9-month-old child with neonatal-onset refractory seizures who failed two short trials of pyridoxine therapy and was later diagnosed with PDE by molecular studies. Regardless of the therapeutic response, a prolonged course of pyridoxine therapy is justified to identify delayed responders in infants with drug-refractory epilepsy of no apparent etiology.

Haematohidrosis in a 12-year-old boy: blood, sweat and tears.

A 12-year-old boy presented with a 1-year history of episodes of spontaneous bleeding from multiple sites lasting for a few minutes. His medical history was unremarkable and all the episodes of bleeding began after he was separated from his aunt to whom he was very much attached. She had moved out of their home following her marriage. All haematological investigations were normal. He was diagnosed with haematohidrosis secondary to adjustment disorder, and behavioural therapy was advised and propranolol prescribed. At present he is asymptomatic and on regular follow-up.Explanations of terms used in the text: Adjustment disorder: maladaptive response to a psychosocial stressor in an individual with significant difficulty coping with a stressful psychosocial event; anxiolytics: medication that reduces anxiety; chromohydrosis: secretion of coloured sweat; haematochezia: passage of fresh blood through the anus, usually in or with stools; haematohidrosis: sweating blood; oto-erythrosis: spontaneous bleeding from the ear; otorrhagia: haemorrhage from the ear; vicarious menstruation: cyclical bleeding outside the uterine cavity during the menstrual cycle.

Severe acute kidney injury owing to rhabdomyolysis and intravascular haemolysis in an 11-year-old child with G6PD deficiency.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency leading to acute intravascular haemolysis and acute kidney injury (AKI) is a known clinical presentation. However, there is a paucity of information regarding the occurrence of rhabdomyolysis and myoglobinuria in G6PD-deficient individuals, especially children. An 11-year-old south Indian Tamil girl presented with severe anaemia and anuric AKI following a short febrile illness. Investigations demonstrated evidence of intravascular haemolysis and rhabdomyolysis, and on histopathology myoglobin deposits (casts) were detected in the renal tubules. She was successfully managed with repeated sessions of haemodialysis and blood transfusions. Follow-up estimation of G6PD levels after 3 months confirmed severe G6PD deficiency (0.003 nkat/g haemoglobin). Although there are anecdotal reports of myoglobinuria in G6PD-deficient individuals, the occurrence of severe anuric AKI in this clinical setting has not been reported. It can be speculated that myoglobinuria (in addition to haemoglobinuria) can contribute towards jeopardising renal function in G6PD deficiency-related acute haemolytic crisis.