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Patient with self-mutilation, delay, dystonia, choreoathetosis, spasticity, gout, tophus formation:

a) Wilson's disease
b) Lesch-Nyhan syndrome
c) Huntington's disease
d) Parkinson's disease

1 Answer

2 votes

Final answer:

The symptoms described are indicative of Lesch-Nyhan syndrome, a rare hereditary disorder associated with purine metabolism, and not Parkinson's disease, which does not typically include self-mutilation or the same severe neurological symptoms.

Step-by-step explanation:

The patient's symptoms of self-mutilation, delay, dystonia, choreoathetosis, spasticity, gout, and tophus formation are indicative of Lesch-Nyhan syndrome. This disorder can present with a variety of neurological and behavioral abnormalities, including the aforementioned symptoms. Lesch-Nyhan syndrome is caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) which leads to a buildup of uric acid in the body, manifesting in symptoms such as gout and self-mutilating behaviors. It is a rare hereditary disorder linked with purine metabolism.

Parkinson's disease can produce symptoms such as balance and posture problems, repetitive motor behaviors, and difficulty with planning and executing tasks. It is caused by the degeneration of neurons that release dopamine. Parkinson's disease does not typically present with self-mutilation or the severe neurological symptoms described in the patient's case. Therefore the correct answer for this patient's condition is b) Lesch-Nyhan syndrome.

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