Journal of neuroimaging : official journal of the American Society of Neuroimaging
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Case Reports
Neurofibromatosis type 1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke.
Neurofibromatosis type 1 (NF1) is a heterogeneous, common, neurocutaneous disorder presenting different complications during a life span, including cerebrovascular dysplasia. To our knowledge this is the first reported case of NF1 associated with vertebrobasilar dolichoectasia and pontine ischemic stroke. We describe a 57-year-old man with NF1 who presented an acute onset right-sided facial palsy and hemiplegia, dysarthria, and gait imbalance. ⋯ Brain Computed Tomography Angiography revealed the occurrence of vertebrobasilar dolichoectasia. Co-occurrence of VBD and NF1 might not be merely casual and it may significantly heighten the mortality rate in this multisystem disorder. We suggest a possible role of VBD in the genesis of our patient's clinical-radiological features and prompt the early detection of asymptomatic arteriopathy in individuals with NF1 in order to ameliorate patients' quality of life and life expectancy.
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The purpose of the present retrospective study was to evaluate the sensitivity of susceptibility-weighted imaging (SWI) compared to conventional spin-echo T2-weighted and T2*-weighted images in detecting iron deposition in the motor cortex of amyotrophic lateral sclerosis (ALS) patients in comparison with age-matched normal controls. We also investigated the etiology of the low signal referring to the pathology of one autopsy case. ⋯ Decreased signal intensity of the motor cortex on SWI may serve a useful role in ALS diagnoses, particularly in young patients. MR images were also helpful for speculating on the etiology of ALS.
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Bilateral optic neuropathy with bilateral putaminal lesions may be caused by methanol or cyanide poisoning or mitochondrial disorders including Leber hereditary optic neuropathy and Leigh syndrome. We report the case of a 34-year-old Japanese man who developed bilateral visual loss 5 days after the development of gastrointestinal symptoms. ⋯ We diagnosed bilateral optic neuropathy with bilateral putaminal lesions caused by preceding infection-triggered demyelination. We administered methylprednisolone, but his vision did not recover.
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By pareidolically recognizing specific patterns indicative of particular diseases, neuroimagers reinforce their mnemonic strategies and improve their neuroimaging diagnostic skills. Joubert Syndrome (JS) is an autosomal recessive disorder characterized clinically by mental retardation, episodes of abnormal deep and rapid breathing, abnormal eye movements, and ataxia. Many neuroimaging signs characteristic of JS have been reported. ⋯ Neuroimaging diagnosis of JS, which already involves the pareidolical recognition of specific patterns indicative of the disease, can be improved by recognition of the shepherd's crook sign on MRI, CT, and cranial ultrasound.