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Friedreich's ataxia is classically considered a disease with onset in the first or second decade. However, late-onset (age of onset 25-39 years) and very-late-onset (age of onset >40 years) forms do occur rarely. Misdiagnosis is common, particularly because the later onset forms of Friedreich's ataxia commonly do not show characteristic features of the disorder (areflexia, dysarthria, sensory neuropathy, extensor plantars, amyotrophy, cardiac involvement, diabetes mellitus, scoliosis). Also, there may be atypical features such as spasticity, brisk reflexes and laryngeal dystonia. We present the clinical, imaging and genetic findings of a kindred with very-late-onset Friedreich's ataxia and discuss the pitfalls and risk of misdiagnosis.
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PMID:Very-late-onset Friedreich's ataxia: diagnosis in a kindred with late-onset cerebellar ataxia. 3146 49

The patient was a 64-year-old man presented with difficulty in walking, articulation, and swallowing, as well as cognitive impairment. He had refractory microcytic anemia and diabetes mellitus. His serum levels of iron, copper, and ceruloplasmin were low. Magnetic resonance imaging suggested iron deposition in the basal ganglia, thalami, cerebellar dentate nuclei, and cerebral and cerebellar cortices. He was diagnosed with aceruloplasminemia after a ceruloplasmin gene analysis. Iron chelation therapy with deferasirox improved his anemia and cerebellar symptoms, which included dysarthria and limb ataxia. The present study and previous reports indicate that cerebellar symptoms with aceruloplasminemia might respond to deferasirox in less than one year.
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PMID:Deferasirox Might Be Effective for Microcytic Anemia and Neurological Symptoms Associated with Aceruloplasminemia: A Case Report and Review of the Literature. 3223 21

BACKGROUND Transient neurological symptoms after a percutaneous coronary intervention (PCI) are not uncommon manifestations. In clinical practice, the development of these symptoms might be a warning sign for PCI-related ischemic or hemorrhagic stroke. However, there is a reported risk of contrast-induced neurological injury (CINI) after PCI, which results in a broad spectrum of transient and benign neurological symptoms. Advanced age, renal disease, diabetes, hypertension, and brain parenchymal lesions are risk factors for CINI. CASE REPORT A 78-year-old man with diabetes and impaired renal function developed left-sided hemiparesis and dysarthria within one hour of PCI. Non-contrast CT head showed hyperdense lesions in both frontal lobes, while the susceptibility-weighted sequence of magnetic resonance imaging (SWI-MRI) excludes hemorrhage. Hemodialysis had to be started for fast contrast clearance, and he had recovered completely within 24 hours. CONCLUSIONS This case demonstrates that CINI is an important differential diagnosis that cardiologists and neurologists must be familiar with, especially for high-risk patients. The prognosis is good; whether an appropriate contrast's dose or type for PCI or a need for early hemodialysis to avoid CINI in those patients is unclear.
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PMID:Contrast-Induced Transient Neurological Symptoms Following Percutaneous Coronary Intervention: A Case Report. 3318 39


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