Pediatrics · Genetic and Metabolic Disorders (Chromosomal, Lysosomal, Amino Acid)

A 10-year-old girl with Wilson disease on D-penicillamine develops worsening neurological symptoms, new resting tremor, and increased dysarthria 3 months after starting treatment. KF rings are present. Liver function is mildly abnormal. What explains this initial neurological deterioration?

  • A Paradoxical neurological worsening due to mobilization of copper from liver to brain during initial chelation
  • B D-penicillamine is hepatotoxic and causing worsening liver failure
  • C The patient has developed penicillamine-induced autoimmune encephalitis
  • D KF ring reversal indicating copper re-deposition in the cornea
Correct answer: A. Paradoxical neurological worsening due to mobilization of copper from liver to brain during initial chelation

Explanation

Initial neurological deterioration is a well-recognized and feared complication of starting D-penicillamine in patients with neurological Wilson disease, occurring in up to 50% of patients. Rapid chelation mobilizes copper from hepatic stores, transiently increasing free serum copper which deposits in the brain. This paradoxical worsening may be permanent in some cases. For this reason, zinc salts (which block copper absorption) are often preferred as initial therapy in neurological Wilson disease, or trientine with gradual dose escalation. Tetrathiomolybdate is also used in some centers for neurological presentations.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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