np-c is a severe, progressive and irreversible neurovisceral disease, which is invariably fatal. np-c is a rare disease, with an estimated minimal incidence of 1/120,000 live births . np-c is caused by mutations in npc1 (~95% of patients) or npc2 genes .defective npc1 and npc2 proteins result in a disruption of lipid metabolism . one of special features of this disorder is heterogeneous manifes...

how to cite this article: ashrafi mr, tavasoli ar. how we can put forward the diagnosis of npc disease: suspicion index. iran j child neu rol. 2015 autumn;9:4(suppl.1): 2-4. pls see pdf.

PATIENT Female, 57 FINAL DIAGNOSIS: Syryngomyelia • cervical SYMPTOMS Acute respiratory insufficiency Medication: - Clinical Procedure: - Specialty: Pulmonology. OBJECTIVE Rare disease. BACKGROUND Failed planned extubation occurs in a minority of patients with acute respiratory failure requiring invasive mechanical ventilation. In patients presenting with acute respiratory failure with no...