eponyms in medicine - part 7

61 - Berardinelli-Seip syndrome is congenital generalized lipodystrophy - apparent at birth - infants look very muscular due to absence of fat - associated with diabetes - hepatomegaly - acanthosis nigricans - enlarged external genitalia - and increased rate of skeletal growth.

62 - Kussmaul’s sign is jugular vein distension during inspiration (reversal of normal pattern of decreasing jugular venous pressure during inspiration); classically seen in constrictive pericarditis because of normal increase in venous return with increased abdominal pressure from diaphragmatic contraction leading to increase in right atrial pressure from non-complaint right ventricle - though most common contemporary cause is severe right-sided heart failure (JAMA 1996: 275:632); generally negative in cardiac tamponade.

63 - Nijmegen breakage syndrome is primary immunodeficiency autosomal recessive disorder that presents as microcephaly - a distinctive “bird-like” facies - growth retardation - recurrent pulmonary infections - chromosomal instability - radiation hypersensitivity - and increased incidence of malignancies - especially lymphomas from mutation in nibrin protein - a protein involved in DNA repair; cellular defect similar to ataxia-telangiectasia.

64 - Dobrin’s syndrome is TINU syndrome (tubulointerstitial nephritis with uveitis) - associated with bone marrow granulomas - first described in 1975.

65 - Westermark’s sign is in chest film - an abrupt tapering of a vessel caused by pulmonary embolism - focal oligemia.

66 - Jod-Basedow phenomenon is thyroid hyperfunction induced by excess iodine ingestion in patients with various thyroid disorders; Jod German for iodine; K. A. Von Basedow.

67 - Toldt - white lines of is the peritoneal reflections of the ascending and descending colon.

68 - Möbius syndrome is congenital facial paralysis with or without limb defects associated with maternal misoprostol use.

69 - Landolfi’s sign is in aortic regurgitation - systolic contraction and diastolic dilation of the pupil.

70 - Rasmussen’s encephalitis is progressive childhood disease characterized by severe epilepsy - hemiplegia - dementia - and inflammation of the brain potentially from autoantibodies to GluR3 antigen.