Objective and Importance: Myelopathy secondary to alcaptonuria or ochronosis has been reported in only a few patients, but no reports on alcaptonuria and neuropathy have been available. Clinical Presentation: We report a case of alcaptonuria in a 55-year-old patient who presented with neuropathy and myelopathy after sustaining injuries in a traffic accident. Alcaptonuria, which is a rare autosomal recessive disorder characterized by the inability to metabolize homogentisic acid, was confirmed by the presence of homogentisic acid in the urine of the patient and by typical radiological changes in the spine, hips and knees. Conclusion: The association of alcaptonuria and peripheral neuropathy in this patient may remain accidental; nevertheless, the possibility exists that it is a further disorder of amino acid metabolism associated with neuropathy.
A 70-year-old patient presented with transient cerebral symptoms. These were the only manifestations of coexistent carotid artery disease and a supratentorial tumor in a patient with otherwise normal neurological findings. Clinical presentation of both transient ischemic attacks and pseudovascular paroxysmal neurologic symptoms in this patient are discussed.c
A patient with Guillain-Barré syndrome, who improved after initial treatment with plasma exchange, experienced a relapse of two functional grades 16 days after the completion of treatment. Subsequent treatment with a combination of plasma exchange and intravenous immunoglobulins led to a rapid clinical improvement. The patient experienced complete recovery within 2 months of the treatment.
A 15-year-old Palestinian patient was diagnosed with Wilson’s disease that had been overlooked due to the occurrence of traumatic basal ganglia hemorrhage immediately before the first manifestations of the disease when the patient was 11 years of age. Only a few laboratory diagnostic tests were positive, and the diagnosis was finally confirmed by clinical improvement occurring 6 months after initiation of penicillamine treatment. This case points to the necessity of suspecting Wilson’s disease in every young patient who presents with a change in behavior and difficulty in using his/her hands, even if a plausible explanation may exist.
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