Biomedical subjects
Publications and source records attributed to J Smeitink.
De Barsy syndrome is defined by the combination of a progeroid aspect, cutis laxa, cornea clouding, growth retardation, mental retardation and athetoid movements. The clinical symptoms of a male infant are described and compared with all other cases reported in literature. The aetiology of this syndrome is unclear; inheritance is probably autosomal recessive.
Three patients developed a Fanconi syndrome with impairment of glomerular function (endogenous creatinine clearance 30-60 ml/min per 1.73 m2) during and/or after treatment with ifosfamide according to the SIOP-MMT 84 protocol in which ifosfamide was given in a dose of 3000 mg/m2 every 4 weeks over a 10-month period. The need for early substitution therapy in patients with the Fanconi syndrome is stressed. The renal lesions in our patients were irreversible.
Explore the source record for details and available documents.