Neonatal stroke and haematuria: Questions.

This is a report of an infant born near term with neonatal stroke and haematuria. Changes were noted on foetal magnetic resonance images, and these persisted postnatally. A routine renal ultrasound scan during follow-up detected haematuria with no associated proteinuria. A likely pathogenic genetic mutation was identified. This case highlights a relatively newly discovered cause for hereditary nephropathy affecting the basement membrane, initially affecting the glomerular but later the renal tubular basement membranes. The renal phenotype, pathogenic genotype and pathological findings on renal biopsy are discussed.

Neonatal stroke and haematuria: Answers.

BACKGROUND: This is a report of an infant born near term with neonatal stroke and haematuria. The renal phenotype, pathogenic genotype and pathological findings on renal biopsy are discussed. CASE-DIAGNOSIS: Prenatal magnetic resonance imaging revealed anomalies which persisted postnatally. Haematuria was detected during follow-up. The posttnatal renal ultrasound scan was normal, and there was no associated proteinuria. A likely pathogenic genetic mutation was detected. CONCLUSIONS: This case highlights a relatively newly discovered cause of hereditary nephropathy in which the basement membrane is affected, with initial effects on the glomerular membranes and subsequent effects on the renal tubular basement membranes.

A case of drug reaction with eosinophilia and systemic symptoms.

Drug reaction with eosinophilia and systemic symptoms (DRESS) is characterized by fever, skin rash, hematological abnormalities, and systemic involvement such as hepatitis. DRESS usually presents 2-6 weeks after drug initiation. DRESS should be suspected on clinical grounds in the setting of the introduction of new drug therapy and is most commonly described after the introduction of aromatic anticonvulsants, allopurinol, or antiretroviral therapies. We describe here a case of DRESS due to phenytoin exposure with complete resolution on drug discontinuation. Our patient developed DRESS with a skin rash, lymphadenopathy, and markedly abnormal liver enzymes, 4 weeks after drug initiation following drainage of a brain abscess. He was initially diagnosed as having a recurrence of the abscess or sepsis of another origin. It is important to recognise the possibility of DRESS in this setting, as a good outcome depends on the immediate withdrawal of the offending drug. A mortality rate of up to 10% has been described in unrecognised cases.