|Year : 2015 | Volume
| Issue : 1 | Page : 66-67
Wilson's disease with a rare presentation: Resistant rickets
Tarakeswara Rao Pikala, Venkata Siva Sankara Murty Yerramilli, Madhusudhan Rao Karuparti, K Lakshmi Priyadarshani
Department of Pediatrics, Maharajah's Institute of Medical Sciences, Vizianagaram, Andhra Pradesh, India
|Date of Web Publication||5-Jun-2015|
Dr. Tarakeswara Rao Pikala
Department of Pediatrics, No. 305, Aishwarya Residency, Baba Metta, Vizianagaram, Andhra pradesh
Source of Support: None, Conflict of Interest: None
Wilson's disease is a rare genetic disorder of copper metabolism. The basic genetic defect is a combination of reduced synthesis of ceruloplasmin and defective excretion of copper in the bile. Abnormal and toxic amount of copper are deposited in various tissues. Clinical manifestations in Wilson ' s diseases are protean and varied. We report a 13-year-old male child with knock-knee deformity, which progressed over 8 years without any other manifestations. High index of suspicion, meticulous examination, and relevant investigations confirmed Wilson's disease.
Keywords: Copper Metabolism, rickets, wilson′s disease
|How to cite this article:|
Pikala TR, Yerramilli VS, Karuparti MR, Priyadarshani K L. Wilson's disease with a rare presentation: Resistant rickets. Indian J Health Sci Biomed Res 2015;8:66-7
|How to cite this URL:|
Pikala TR, Yerramilli VS, Karuparti MR, Priyadarshani K L. Wilson's disease with a rare presentation: Resistant rickets. Indian J Health Sci Biomed Res [serial online] 2015 [cited 2019 May 19];8:66-7. Available from: http://www.ijournalhs.org/text.asp?2015/8/1/66/158242
| Introduction|| |
Common initial manifestations of Wilson diseases are neuropsychiatric, hepatitis or hepatic failure, and hemolysis. Musculoskeletal involvement is a rare initial manifestation of Wilson's disease. There are few cases of Wilson's disease with this rare presentation mostly reported in the Indian subcontinent.
| Case Report|| |
A 13-year-old male, a child born of a non-consanguineous marriage presented with complaints of an insidious onset of progressive difficulty in walking and deformity of both lower limbs since 8 years. There was also difficulty in getting up from squatting position. His school performance was satisfactory. However, he was not able to attend school owing to deformity since last 1 year. There was no history of emotional lability, abnormal involuntary movements, speech abnormalities, and jaundice. There was also no history of similar complaints among the family members.
He received multiple courses of Vitamin D at different health care facilities over the last 6 years period with minimal improvement. Physical examination showed an oriented, malnourished child (weight: 20 kg, with the evidence of rickets in the form of widening and tenderness of wrists, valgus deformity at knees, prominent costochondral junction, and Harrison sulcus [Figure 1], [Figure 2] and [Figure 3]. Child appeared to be pale with no icterus and his vitals stable. Examination of the central nervous system revealed normal higher functions and sensory system. Motor system examination showed the normal tone and a power of 4/5 in the muscle groups in all the limbs with normal reflexes. The patient had a palpable liver with a span of 12 cm and no splenomegaly. Investigations revealed hemoglobin of 8 g/dL, total leukocyte count was 6000/Cmm, erythrocyte sedimentation rate 30 mm/h. Liver and renal functions were within normal. Serum sodium was 140 mEq/L, potassium 3.2 mEq/L, calcium 7.5 mg/dL, phosphate 4.8 mg/dL (2.9-5.4), alkaline phosphate 180 units/L (105-420). Skeletal radiographs of knee showed changes suggestive of rickets. Parathormone level was 10 pg/ml (10-70) and Vitamin D3 level was 26 ng/ml (5.9-59). 24 h urine analysis revealed glycosuria (5.2 g/24 h: Normal <0.5 g/dL) arterial blood gas analysis showed normal anion gap and metabolic acidosis.
With a suspicion of Wilson's disease ophthalmoscopic examination was performed which revealed bilateral Keyser-Fleisher ring and cataracts. Ceruloplasmin level was 22 mg/dL (25-60). Urinary copper excretion was 344.6 μg/L, 24 h urine copper 447.98 ug/day. Thus, the diagnosis of refractory rickets due to Wilson's disease was made. He was treated with potassium and alkali in the form of potassium Shohl's solution. Calcium, Vitamin D, and phosphate replacement was initiated. Zinc acetate tablets prescribed and were advised follow-up.
| Discussion|| |
Wilson's disease is a rare autosomal recessive disease with an estimated incidence of 1 in 300,000.  The data on incidence and prevalence of Wilson's disease from India are not available.  The genetic defect involves mutation of ATP7B gene located on chromosome 13. Varied clinical presentations observed in Wilson's disease may be due to genetic heterogeneity and types of mutations involved. Pattern of phenotypic manifestations vary in different geographic areas. , Musculoskeletal form is specifically observed in the Indian population.  Rickets as a presenting feature is reported by few other Indian authors. ,
In our case, we found rickets as only presentation. The child had no overt central nervous system involvement. No symptoms and signs of hepatic dysfunction are noted in our patient. Rickets in Wilson diseases may be due to cirrhosis, hypoparathyroidism, and renal tubular disorders. In our case, rickets was probably due to renal tubular acidosis. Presence of Keyser-Fleisher ring and absence of obvious neurological manifestations is also very rarely noted. Similar observation had been reported by Goyal.  Diagnosis has been delayed in our case for 8 years. High index of suspicion and early diagnosis and treatment would have averted deformity. Ophthalmoscopic examination for Keyser-Fleisher ring in resistant rickets will help in diagnosis Wilson's disease early and initiation of treatment will prevent complications.
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[Figure 1], [Figure 2], [Figure 3]