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Annals of Indian Academy of Neurology
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CASE REPORT
Year : 2007  |  Volume : 10  |  Issue : 4  |  Page : 259-262

Niemann-Pick disease Type C - Sea-blue histiocytosis: Phenotypic and imaging observations and mini review


1 Department of Neurology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India
3 Department of Neuroradiology, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India
4 Department of Neurochemistry, National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore, India

Correspondence Address:
S Sinha
National Institute of Mental Health and Neurosciences (NIMHANS), Bangalore - 560 029
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0972-2327.37820

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We present a report on an 18-year-old boy with Niemann-Pick disease Type C (NP-C) who presented with progressive decline in scholastic performance since 9 years of age. At 12 years, he developed abnormal behavior and after 2 years had insidious onset, progressive gait ataxia and dysarthria followed by dystonia of the right upper extremity, excessive drooling, dysphagia and nasal regurgitation. He had coarse facies, depressed nasal bridge, high arched palate, crowded teeth, splenomegaly and peculiar facial grin. In addition, impaired vertical saccadic and pursuit eye movements, brisk muscle stretch reflexes and limb and gait ataxia were observed. He had a low IQ of 47 on Binet-Kamat test. The ultrasound examination of the abdomen confirmed the presence of moderate splenomegaly. Magnetic resonance imaging brain showed symmetrical leucoencephalopathy and mild cerebellar atrophy. Bone marrow aspiration showed numerous foamy macrophages and sea-blue histiocytes suggesting the diagnosis of NP-C.


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