Sunday, August 1, 2010

A boy of 14 with Wilson Disease

Hashibur rahma, 14 years of age of consanguineous parents from Bandar, Chittagong presented with progressive difficulty to walk, to work with hands and in speech.

Birth history is normal and there is no developmental delay.

On examination, the patient is alert, a bit emotionally labile, muscle bulk is reduced in generalized form; rigidity of muscles increased, power is reduced, reflexes are exaggerated, more on the right side. Among the involuntary movements tremor of the hand and feet is present, coarse and also of intention tremor in type. Coordination is normal. Gait though not typically fastinant, but on small base.There is no hepatomegaly.
Eye Examination on slit lamp shows Kayser Flesher Ring.

In investigation: Serum cerulloplasmin is 150 ugm, Serum copper and urinary copper couldn’t be done, CBC is normal with Hb-11.2 gm/dl, ESR -10, TC-7300, DC-N-67, L-28, E-3, B-0, Urine R/E N, Serum creatiniine- 0.7 mg/dl. CT scan reveals Normal.

The case is diagnosed as Wilson Disease – Neurological type.

The patient was treated with Pallicillamine, Xinc and Perkinil

badrud doza


Wilson Disease: Wikipedia