[Retrospective diagnosis of Lesch-Nyhan syndrome].
Lesch-Nyhan syndrome was retrospectively diagnosed by postmortem examination and family history in a male infant who had lived to the age of six months. Pathologico-anatomic findings included strongly pronounced uric acid nephropathy with tophaceous deposits and urate calculi in the renal pelvis as well as pedatrophia and anaemia.
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Abteilung für Kinderpathologie, Medizinischen Akademie Magdeburg, Deutschland.
D002675:Child, Preschool; D006801:Humans; D007668:Kidney / Q000473:pathology; D007926:Lesch-Nyhan Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D012189:Retrospective Studies
Retrospektive Diagnose eines Lesch-Nyhan-Syndroms.