CT and MR Findings of Neuroacanthocytosis

Okamoto, Kouichirou; Ito, Jusuke; Furusawa, Taiji; Sakai, Kunio; Tokiguchi, S.; Homma, Atsushi; Koike, Ryoko; Tsuji, Shoji

doi:10.1097/00004728-199703000-00010

Cited by 18 publications

(7 citation statements)

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“…Former studies reported striatal and in some cases a slight generalized atrophy. An increased T2 signal is common in the caudate and the putamen bilaterally 17, 18. Tracer imaging studies with SPECT and PET showed hypometabolism in the caudate nucleus and putamen19 that seems to precede atrophy and MRI signal changes 20.…”

Section: Discussionmentioning

confidence: 98%

Association between depression and survival or disease recurrence in patients with head and neck cancer enrolled in a depression prevention trial

et al. 2009

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Section: Discussionmentioning

confidence: 98%

Association between depression and survival or disease recurrence in patients with head and neck cancer enrolled in a depression prevention trial

et al. 2009

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“…Radiological findings are not specific to the disease. On cranial MR examination, diffuse atrophy in the cerebral and caudate nucleus and ventricular expansion, which is more apparent in the lateral ventricular frontal horn are prominent (8,10). Our patient's MR examination revealed mild cerebral atrophy, and a coincidental 4-mm cavernoma was found in the left frontotemporal region (Figure 1).…”

Section: Discussionmentioning

confidence: 66%

A Case of Neuroacanthocytosis with Cerebellar Syndrome

Azman¹,

Çabalar²,

Topcular³

et al. 2015

Istanbul Med J

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Neuroacanthocytosis is a rare slowly progressive neurodegenerative disease accompanied with movement disorders, epilepsy, cognitive impairment, multisystem psychiatric symptoms. It is usually investigated in patients presenting with movement disorders, and diagnosis is made based on clinical presentation and the presence of acanthocytes in the peripheral blood. We aimed to present a case of neuroacanthocytosis with prominent cerebellar findings. Keywords: Neuroacanthocytosis, acanthocyte, cerebellar syndrome IntroductionNeuroacanthocytosis is a multisystemic, slowly progressive, neurodegenerative disease associated by chorea, dystonia, orofacial dyskinesia, tics, epilepsy, cognitive involvement, and behavioural changes (1, 2). In its differential diagnosis, there can be many diseases such as Huntington disease (HD), Parkinson's disease, Tourette's syndrome, and Wilson's disease. In this study, we aimed to present the case of a patient with neuroacanthocytosis with prominent cerebellar findings. Case ReportA 52-year-old female patient applied with 5 years history of progressive gait disturbance and dysphagia, difficulty in speech and imbalance. She had a history of epilepsy for 20 years. She also had a history of smoking a pack of cigarettes a day for 30 years. She appeared cachectic, and her cooperation was limited due to cognitive deterioration. Her speech could hardly be understood in the neurologic examination; speech fluency was decreased with impaired articulation, dysphonic, and dysarthric. The tongue movements were limited. She had orolingual dyskinesia and dysphagia. Her muscle strength was 4/5 in the extremity proximal muscles and 3/5 in the distal muscles. The right interosseous muscles were atrophic. Deep tendon reflexes were decreased and the plantar reflex were bilaterally extensor. Mild rigidity was detected in the left upper extremity. She had bilateral dysmetria, dysdiadochokinesia, and ataxia. Hemogram values; function tests of the liver, kidney, and thyroid; folic acid levels; vasculitis parameters; serum copper, ceruloplasmin, and urinary copper levels; tumor markers; protein levels; and lipid electrophoresis were within reference intervals. B12 level was 120 mg/dL and replacement therapy was administered. On the cranial magnetic resonance (MR) examination, a 4-mm cavernoma and diffuse moderate cerebral atrophy were detected (Figure 1, 2). Chronic axonal sensorimotor polyneuropathy was detected in her electromyography examination. Electroencephalography findings were normal. The CAG repeat was normal. Acanthocytes rate over 50% was found in each peripheral smear repeated three times (Figure 3). The diagnosis of neuroacanthocytosis was established by clinical and peripheral smear findings. Symptomatic treatment with olanzapine (5 mg/day) was started. Patients' written informed consent was obtained. DiscussionNeuroacanthocytosis, consisting of deformed erythrocytes known as acanthocytes in the peripheral blood is a rare disease which presents with various neurological and psychiatric findings. I...

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“…[3][4][5] Frontal lobe atrophy or general cerebral atrophy has also been reported. 4,13,14 To the best of our knowledge, cerebellar atrophy in neuroacanthocytosis, as seen in the cases of our 2 patients, has only been mentioned in 2 articles.…”

Section: Discussionmentioning

confidence: 99%

“…[3][4][5] To the best of our knowledge, cerebellar atrophy associated with neuroacanthocytosis has been described in only 2 articles. 6,7 We report herein the cases of 2 siblings with ChAc showing cerebellar atrophy along with atrophy and signal intensity changes in striata on MR imaging.…”

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confidence: 99%