Wilson disease in two consecutive generations: an exceptional family

“Not so rare” Wilson disease

“…The diagnosis in the pre-symptomatic 5-year-old daughter would have been less surprising if the basal 24-hour urinary copper excretion at 1.0 and 0.9 mol/24 h, on two separate occasions, had been seen as informative. Another family reported in 2001 [11] was broadly similar to Family 3 reported here in that consanguinity (parents were second cousins) was unrecognized. Genotyping revealed the common H1069Q mutation plus another, which was not actually identified until a few years later [12].…”

A New Mutation of Wilson's Disease P-Type ATPase Gene in a Patient with Cirrhosis and Coombs-Positive Hemolytic Anemia

“…In fact, the mother (H1069Q/E1064K) presented with late-onset neurological manifestation, while her son (E1064K/E1064K) presented with earlyonset, rapidly progressing acute liver failure and with consequent orthotopic liver transplantation (32,33).…”

Diagnosis of Wilson's Disease: A Comprehensive Review

“…Case reports with a typical presentations include: r hemolytic anemia; 56−59 r Coombs-positive hemolytic anemia; 60 r hepatocellular carcinoma; 61,62 r hypoglycemia; 63 r primary and secondary amenorrhea; 64,65 r recurrent spontaneous abortions; 66,67 r skeletal abnormalities including osteomalacia, osteochondritis, osteoarthritis, osteochondritis dessecans, bone fragmentation, and progressive multiple joint derangement; 68−71 r painless legs moving toes syndrome; 72 r isolated tongue protrusion movement; 73 r benign epilepsy of childhood; 74 r stroke-like attack; 75 r status epilepticus; 76,77 r poor cognitive development and abdominal pain; 78 r renal disorders such as hypercalciuria and nephrocalcinosis, 79 hematuria, 80 glomerulonephritis, 81,82 and renal tubulopathy, 83,84 recurrent limb weakness caused by hypokalemia complicated by distal renal tubular acidosis; 85,86 r respiratory failure; 87 r coexistence with primary antiphospholipid syndrome; 88 r cardiac abnormalities including cardiomyopathy, arrhythmias, left ventricular hypertrophy, biventricular hypertrophy, early repolarization, ST depression and T inversion, premature atrial or ventricular contractions, atrial and ventricular fibrillation, sino-atrial block, tremor artefact, orthostatic hypotension, and cardiac death. 89,90 WD has never been reported in two consecutive generations within a family except by Firneisz et al 91 The mother presented with hand tremors and an ataxic gait in her adulthood, while her son presented with jaundice at age 15 years. Both had KF rings and abnormal copper metabolism.…”