Hussnain Shaukat Mirza, Ghazanfar Ali Sheikh.
Wilson`s Disease: A rare familial metabolic disorder.
Pak Paed J Jan ;27(4):181-3.

A 6 years old child, all right 6 months ago, when she developed malaise and easy fatigability. Her school performance started deteriorating and parents noticed jaundice in her eyes two months back. Since then her jaundice is deepening and now she has developed progressively increasing abdominal distension. There was no history of any abnormal skin or mucosal bleed, itching, pruritis, night blindness or altered conscious level. Her maternal grandfather died, one year after developing jaundice. No other significant family history of chronic liver disease or any neurological problem. O/E she was conscious but irritable, weight 20 kg, height 105 cm, pulse 88/minute, respiratory rate 16/minute, temperature 98.6 F, B.P. 100/70 mm Hg. She was pale and deeply janundiced. Her abdomen was distended, non-tender and soft. The anterior abdominal wall veins were prominent. It was non-tender and soft. 2-cm Firm spleen was palpable along with 3-cm soft to firm liver. Fluid thrill was present and bowel sounds were audible. Her higher mental functions were compromised. However she was otherwise conscious and alert. No focal sensory or motor deficit was evident. Her cerebellar functions were normal and plantars were downgoing. She was having bilateral Kayser-Fleischer rings.

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