Progressive spastic paraplegia as a first manifestation of late infantile form of Niemman Pick C disease: a case report

Niemann-Pick C disease is an atypical lipid storage disorder with the interesting manifestations. We reported a three and a half-year-old boy with unusual presentations. The patient presented with progressive spastic paraplegia and exaggerated Deep Tendon reflexes with high Lactate Dehydrogenase since 6 months ago .In further investigations, spinal Magnetic Resonance Imaging, Lumbar Puncture, serum amino acid chromatography and infectious studies were normal. To rule out malignancies, bone marrow aspiration obtained and mild myeloid preponderance observed. Two months later, he admitted to the hospital with exacerbation of walking disorder and ataxia. Due to deterioration of symptoms, bone marrow aspiration repeated and foamy cells observed. For establishment of diagnosis, genetic test performed and mutation of NPC-1 gene was found. The special characteristic of this case was the onset of neurological manifestation by progressive spastic paraplegia in a patient older than 3 years old however, the disease was not an early-infantile form.