The Niemann-Pick Type C disease is a metabolic disorder difficult to diagnose, due to its clinical heterogeneity. It is characterized by a neuro-visceral condition caused by the intracellular transport deficiency of non-esterified cholesterol, produced by the accumulation of glycosphingolipids in the lysosomes. Some patients show cognitive impairment, behavioural problems, progressive cerebellar ataxia, dysarthria, psychosis, neonatal jaundice, hepatosplenomegaly, pulmonary infiltration, and saccadic and fast ocular involuntary movements, with posterior supra-nuclear paralysis of the vertical gaze. This bibliographic revision depicts the decease and its main support for diagnostic tests, since the prognosis depends on the onset age of the neurological manifestations. Besides, it is necessary to know in our country the incidence of the decease, and the differential diagnosis with complementary tests, such as the molecular studies for the implied genes NPC1/2, and the level of oxysterols quantification.