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

Praveen, K. S.; Sinha, S.; Yasha, T. C.; Muthane, U. B.; Ravishankar, S.; Sangeetha, S.; Shetty, K. T.; Taly, A. B.
December 2007
Annals of Indian Academy of Neurology;Dec2007, Vol. 10 Issue 4, p259
Academic Journal
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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