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Wilson's disease - A rare cause of renal tubular acidosis with metabolic bone disease.

Subrahmanyam DK, Vadivelan M, Giridharan S, Balamurugan N - Indian J Nephrol (2014)

Bottom Line: We report a 16-year-old boy who presented with weakness of lower limbs.He was diagnosed to have Wilson's disease, renal tubular acidosis and osteoporosis.Screening of siblings showed that his younger sister was also affected by the disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

ABSTRACT
We report a 16-year-old boy who presented with weakness of lower limbs. He was diagnosed to have Wilson's disease, renal tubular acidosis and osteoporosis. Screening of siblings showed that his younger sister was also affected by the disease.

No MeSH data available.


Related in: MedlinePlus

Kayser-Fleischer ring in (a) left eye and (b) right eye
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Figure 2: Kayser-Fleischer ring in (a) left eye and (b) right eye

Mentions: Slit lamp examination showed Kayser-Fleischer (KF) rings in both eyes [Figure 2]. Ultrasonography (USG) of abdomen showed coarsened echotexture of liver with a size of 13 cm, normal portal vein diameter and enlarged spleen with a size of 15.7 cm. Both kidneys were normal with no evidence of calculi on USG. Upper gastrointestinal endoscopy showed single Grade I varix in the lower esophagus and small erosion in the fundus of stomach. Digital X-rays of pelvis and lumbo-sacral spine showed osteopenia. X-ray of both wrist joints of the patient showed evidence of metaphyseal fraying and cupping. This could be a radiologic feature of rickets [Figure 3]. To confirm the radiologic findings, Dual-energy X-ray absorptiometry (DEXA) scan of lumbar spine (L2-L4) was done that revealed T score of −3.66 and Z score of −3.51 which was suggestive of severe osteoporosis. DEXA scan was done in this patient to confirm the radiologic findings and to document improvement after therapy. Nerve conduction velocity studies of lower limbs were normal. Electromyography of lower limb showed a myopathic pattern. Magnetic resonance imaging (MRI) studies of the brain showed bilaterally symmetrical pallidal hyperintensities on T1 sequence consistent with Wilson's disease. MRI of the spinal cord was normal.


Wilson's disease - A rare cause of renal tubular acidosis with metabolic bone disease.

Subrahmanyam DK, Vadivelan M, Giridharan S, Balamurugan N - Indian J Nephrol (2014)

Kayser-Fleischer ring in (a) left eye and (b) right eye
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4127837&req=5

Figure 2: Kayser-Fleischer ring in (a) left eye and (b) right eye
Mentions: Slit lamp examination showed Kayser-Fleischer (KF) rings in both eyes [Figure 2]. Ultrasonography (USG) of abdomen showed coarsened echotexture of liver with a size of 13 cm, normal portal vein diameter and enlarged spleen with a size of 15.7 cm. Both kidneys were normal with no evidence of calculi on USG. Upper gastrointestinal endoscopy showed single Grade I varix in the lower esophagus and small erosion in the fundus of stomach. Digital X-rays of pelvis and lumbo-sacral spine showed osteopenia. X-ray of both wrist joints of the patient showed evidence of metaphyseal fraying and cupping. This could be a radiologic feature of rickets [Figure 3]. To confirm the radiologic findings, Dual-energy X-ray absorptiometry (DEXA) scan of lumbar spine (L2-L4) was done that revealed T score of −3.66 and Z score of −3.51 which was suggestive of severe osteoporosis. DEXA scan was done in this patient to confirm the radiologic findings and to document improvement after therapy. Nerve conduction velocity studies of lower limbs were normal. Electromyography of lower limb showed a myopathic pattern. Magnetic resonance imaging (MRI) studies of the brain showed bilaterally symmetrical pallidal hyperintensities on T1 sequence consistent with Wilson's disease. MRI of the spinal cord was normal.

Bottom Line: We report a 16-year-old boy who presented with weakness of lower limbs.He was diagnosed to have Wilson's disease, renal tubular acidosis and osteoporosis.Screening of siblings showed that his younger sister was also affected by the disease.

View Article: PubMed Central - PubMed

Affiliation: Department of Medicine, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, India.

ABSTRACT
We report a 16-year-old boy who presented with weakness of lower limbs. He was diagnosed to have Wilson's disease, renal tubular acidosis and osteoporosis. Screening of siblings showed that his younger sister was also affected by the disease.

No MeSH data available.


Related in: MedlinePlus