Wilson's disease in children: clinical anddiagnostic features | [Journal of College of Physicians and Surgeons--Pakistan : JCPSP • 2002]

Author(s):

1. Hina Ayesha: Department of Paediatrics, Allied Hospital Punjab Medical College, Faisalabad, Pakistan

2. Aamer Ali Choudhry: Department of Ophthalmology, Madina Medical Centre, Faisalabad, Pakistan

3. MuhammadTariqJaved: Department of Vetinary Pathology, University of Agriculture, Faisalabad, Pakistan

4. Farhan Javed: Department of Paediatrics, Allied Hospital, Punjab Medical College, Faisalabad.Pakistan

Abstract:

To study the clinical and diagnostic laboratory features of Wilson s disease in children and adolescents. Design: A prospective cohort study. Place and Duration of Study: The study included patients diagnosed as Wilson s disease at the Department of Paediatrics Allied Hospital, Punjab Medical College, Faisalabad from May 1997 to June 2001. Patients and Methods: Patients presenting with liver or suggestive neurological disease were investigated. Others were diagnosed as a result of family screening. Diagnosis of neurologic disease was made if two of the following were present: Typical neurological findings, Kayser Fleischer corneal rings and low serum ceruloplasmin (< 20 mg/dl). In other forms and for family screening, 24 hours, urinary copper (>100 |igm), free serum copper (>10 iigm/dl), and wherever possible liver biopsy for histopathology and cytochemical staining by rubeanic acid was also done. Results: Twenty-seven patients with a mean age of 10.2 years were diagnosed as suffering from Wilson s disease. Mean age for hepatic and neurological disease was 9 years and 11.5 years respectively. Youngest patient (neurologic) was 6 years old. 48% cases presented with neurological, 41 % with hepatic and 4 % with skeletal manifestations while 7 % were asymptomatic. Mean duration of symptoms before diagnosis was 6.1 months. Dysarthria (84.6%), tremors (69.2%), rigidity and poor school performance and hand writing (61.5%), dysphagia (46.1 %) and dystonia (38.5%), were the most common neurologic findings. Chronic liver disease was seen in 73 % while acute forms were seen in 27 % cases. Two cases presented with fulminant hepatic failure. Consanguineous maniage of the parents was found in 70 % and family history of disease was present in 65 % cases. K-F (Kayser Fleischer) rings and low serum ceruloplasmin (< 20 mg/dl) was found in 85% of all patients. In non neurologic types other tests of copper metabolism were done. Elevated urinary copper excretion and free serum copper was noted in 79 % and 86% of non neurologic types respectively. Liver biopsy revealed various grades of liver damage. Focal copper stores on rubeanic acid staining were seen in 2 out of 7 patients subjected to liver biopsy. Six (22 %) patients died within six months, 7(26 %) were lost to follow-up and 14(52%) are being followed-up. Conclusion: Wilson s disease presents at an early age but at a late stage in our region. Diagnosis can be made if it is suspected. Early diagnosis is essential for improving survival. Inter family marriages should be avoided to prevent disease..

Page(s): 157-161

DOI: DOI not available

Published: Journal: Journal of College of Physicians and Surgeons--Pakistan : JCPSP, Volume: 12, Issue: 3, Year: 2002

Keywords:

Child , Biopsy , copper , Adolescence , Diagnosis , Liver diseases , Wilsons disease , Ceruloplasmin

References:

[1] Adelantado JM,Rees MC,Bernal AL,Turnbull AC,Connor O,Magos A .1996 .Endometrialresection forthe rhagicwomen. Eng!JMed, 335 : 151-6.

[2] Elahi N .1997 .Menstrualdisorder sin adolescent gia. CollPhysicians Surg Pakistan, 7 : 105-7.

[3] Hassan K . .-haematological featuresin childrenand adult sufferingfromidiopathic thrombocytopenic Pakis^ninstMedSciy^. Pc, 4 : 241-7.

[4] Walhen PL .1995 .. MedCiin North Am, 79 : 329-44.

[5] .1996 .. AmJObstet Gynecol, 175 : 766-9.

[6] Coupey SM .1989 .. AhlstromP. Commonmenstrualdisorders. Pediatr CHn North Am, 36 : 551-71.

[7] .1996 .Prospective multicenterstudy on subcutaneousconcentrated desmopressinforhometreatmentofpatients with von Willebrandisease and mild ormoderatehemophilia A. ThrombHaemost, 76 : 692-6.

[8] Milsom I .1991 .A compari son of flurbiprofetrn,anexamic acid, and a levonorgestrel-releasiningtra-uterine contraceptive device in the treatment of idiopathic menorrhagia. Am J Obstet Gynecol, 164 : 879-83.

Citations

Downloads

Views