title: Clinicopathological studies of oculo cerebrorenal syndrome of Lowe, Terrey and MacLachlan.
abstract: A thirty-three-year-old male with Lowe's syndrome had cataract; nystagmus, buphthalmos, prominent frontal bossing, growth and mental retardation, aminoaciduria, proteinuria, rickets, areflexia, genu valgum, piercing cry and head-banging being among the presenting features. The rickety changes improved over a period of years with the administration of vitamin D2. Pathological changes include: (1) tubular damage in the kidneys and hypertrophies of Bowman's capsules; (2) small brain with ventricular dilatation with thickened meninges, small corpus callosum, small size of pyramidal tracts and medial leminisci, neurofibrillary tangles in the pyramidal cells of the Ammon's horn and frontal lobe; (3) eye changes of buphthalmos, congenital cataracts and thickening of Descemet's membrane; (4) testicular atrophy--both testes showing peritubular fibrosis with an increase of fibrous tissue in the interstitial tissue. Azoospermia was present linked with poor development of spermatogonia and spermatocytes. The lumina of the seminiferous tubules were filled with foamy exudate.
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005123:Eye / Q000473:pathology; D005500:Follow-Up Studies; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D007668:Kidney / Q000473:pathology; D008297:Male; D009800:Oculocerebrorenal Syndrome / Q000175:diagnosis / Q000473:pathology*; D015499:Renal Tubular Transport, Inborn Errors / Q000473:pathology*; D013737:Testis / Q000473:pathology