Generalized hyperpigmentation in Wilson's disease: An unusual association
A 9-year-old male child presented with progressive darkening of skin over the whole body for last 3 years []. He also had regression of motor milestones and slurred speech for last 1 year. The neurological abnormality started with frequent falls and instability during walking. He had no history of jaundice, hepatomegaly, splenomegaly or ascites.\nHe had bladder incontinence but his bowel habit was normal. He had two younger female siblings who were apparently asymptomatic. His parents were first-degree cousins.\nOn examination, the child was alert but irritable and apprehensive. There was diffuse and uniform hyperpigmentation all over the body [Figures and ]. His pulse rate, blood pressure, temperature and respiratory rate were normal. There was no cranial nerve abnormality. There was generalized hypertonia. All the deep tendon reflexes were exaggerated. Plantar was bilaterally flexor. There were no meningeal or cerebellar signs. There was no focal deficit. Examination of all other systems were within normal limits.\nOn investigations, hemoglobin level was: 10.5 g%, total leucocyte count was 9000/mm3, platelet count was 1.6 lakh/mm3 and reticulocyte count was 1.2. Serum Na+ was 140.1 meq/l and K+ level was 3.36 meq/l. Serum bilirubin, liver enzymes, albumin and globulin were within normal limits. Serum ceruloplasmin was reported as 3.01 mg/dl (normal 20-60 mg/dl). Twenty-four hour urinary copper level was 153 μg/24 hour without penicillamine challenge and 442.75 μg/24 hrs after challenge (normal 20-50 μg/dl). Slit lamp examination of eyes revealed Kayser-Fleischer (KF rings) bilaterally.\nUltrasonography of abdomen and chest X-ray were within normal limits. Magnetic resonance imaging of brain revealed bilaterally symmetric hyper intensities involving the thalami, adjacent putamen and mid brain. Mild cerebral atrophic changes were also present []. The examination of cerebrospinal fluid did not reveal any abnormality. Serum cortisol level at 8 a.m. was 7.6 μg/dl (normal range 3.7-19.4 μg/dl). Serum very long chain fatty acid (VLCFA) could not be done due to nonavailability of facilities. On the basis of reduced serum ceruloplasmin, raised 24-hour urinary copper (both unchallenged and challenged) and presence of KF rings the diagnosis of Wilson's disease was established.\nWe did a family screening. He had two younger female siblings. Both were asymptomatic. One of them had hepatomegaly. Her liver function tests revealed raised liver enzymes but normal bilirubin level. Her serum ceruloplasmin was 11 mg/dl. The other sibling did not show any abnormality clinically or biochemically.