Wilson disease in a Nigerian child: a case report

Abstract

IntroductionWilson disease is rarely reported among African children. This report describes the second case report of a Nigerian child with Wilson disease in three decades.Case presentationAn eight-year-old African boy presented with generalized oedema and ascites and proteinuria. Over the next three weeks he developed conjugated hyperbilirubinaemia, severe coagulopathy and prominent extrapyramidal features consisting of rigidity, tremors at rest and in action, shuffling gait, slurred speech and emotional lability. Slit-lamp examination of his eyes revealed Kayser-Fleischer rings and sunflower cataracts. His serum caeruloplasmin level was 5mg/dL. Using the scoring system proposed by the 8th International Meeting of Wilson Disease and Menkes Disease, a diagnosis of Wilson disease was made.ConclusionsWilson disease does occur in African children, although the diagnosis is rarely made. A diagnosis of Wilson disease should be entertained in the evaluation of African children presenting with liver dysfunction and/or extrapyramidal neurological features.

Wilson′s disease: A Clinical autopsy case report with review of literature

“…[ 2 ] The chance of sibling and offspring being a homozygote and developing clinical disease is 25% and 0.5%, respectively. [ 5 ] In the present case, the youngest sister of the patient had died with similar complaints.…”

“…Worldwide the average prevalence is about 30 individuals per million populations. [ 3 4 5 ] A variable prevalence rate is observed geographically that is, 12-29/million in Europe, 33-68/million in Japan and 38-68/million in Asian countries other than India. The higher incidence rate in Asians is attributed to consanguinity.…”

Zinc Monotherapy as an Alternative Treatment Option for Decompensated Liver Disease due to Wilson Disease?

“…But the exact epidemiology of WD in Africa is not known because it is rare to diagnose and report. In those patients with signs and symptoms of liver disease which is not due to viral infections, WD must be considered and investigated because hepatic manifestations are common in children [4][5][6][7]. e diagnosis of WD relies on clinical manifestations like the pigmentation of the iris (Kayser-Fleischer rings, suggestive signs and symptoms of liver disease, and neuropsychiatric problems) with some laboratory pieces of evidence (low ceruloplasmin, elevated urine, and hepatic copper level) [5,6].…”

“…In those patients with signs and symptoms of liver disease which is not due to viral infections, WD must be considered and investigated because hepatic manifestations are common in children [4][5][6][7]. e diagnosis of WD relies on clinical manifestations like the pigmentation of the iris (Kayser-Fleischer rings, suggestive signs and symptoms of liver disease, and neuropsychiatric problems) with some laboratory pieces of evidence (low ceruloplasmin, elevated urine, and hepatic copper level) [5,6]. However, the presence of Keyser-Fleischer rings and a low level of ceruloplasmin is sufficient to diagnose WD, especially in developing countries with limited resources [7].…”

“…is was supported by a study done in Italy, which showed that zinc monotherapy is effective in controlling WD-related liver disease, both as first-line and as maintenance treatment in patients with milder liver disease diagnosed in childhood [18]. ere was also a case report from Nigeria, an 8-year-old male patient, with decompensated liver disease with neurologic manifestations managed with zinc monotherapy because of the unavailability of copper chelator drugs, and the patient showed significant improvement in the clinical manifestations and laboratory abnormalities [6]. ere are a few examples (Table 2) that summarize the improvement of decompensated liver on zinc treatment.…”