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WILSONS DISEASE -- ISOLATED NEUROLOGICAL VARIANT -- A CASE REPORT

Journal: University Journal of Pre and Paraclinical Sciences (Vol.6, No. 1)

Publication Date:

Authors : ;

Page : 23-24

Keywords : Wilsons disease; Copper metabolism; Kayser Fleischer ring.;

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Abstract

BACKGROUND - Wilsons disease is an inborn error of copper metabolism caused by mutation of the copper transporting gene ATP7B and autosomal recessive inheritance with more pronounced pathological involvement of the liver, eyes and brain . CLINICAL HISTORY- A 12 year old female child 4th born to II degree consanguineous parents, presented in the Paedriatic Neurology department with complaints of slurred speech , tremors involving both extremities, history of drooping of right shoulder, worsening academic performance and abdominal pain. On examination, patient was pale with hepatosplenomegaly, dysarthria, dystonia of limbs, gait disturbances and bilateral Kayser Fleischer on slit lamp examination of eyes. RESULTS- Biochemical investigations showed normal liver function tests, reduced serum copper and ceruloplasmin levels with increased 24 hours urinary copper. Complete Blood Count showed anemia and thrombocytopenia. Renal function tests and coagulation profile were normal. Viral markers for hepatitis were negative.USG showed mild hepatosplenomegaly. MRI showed features suggestive of Wilsons disease. Hence, a case of NeuroWilson without hepatic involvement was diagnosed. CONCLUSION- Neurological feature may be the only presenting manifestation of Wilson disease even in the absence of clinical and biochemical evidence of hepatic involvement. Along with clinical profile, the role of biochemical investigations are a must for diagnosis and treatment .

Last modified: 2020-02-03 19:19:06