Neonatal and infantile presentations of NPC are most commonly nonspecific and may go unrecognized. [centogene.com]

Isolated splenomegaly may be the presenting symptom in some adolescents or adults. [rarediseases.org]

Younger children may present with developmental delays and low muscle tone. [mayoclinic.org]

The patient currently follows no type of treatment and only presents pulmonary and hepatic affectation with no central nervous system affectation. [archbronconeumol.org]

Also, J.S. did not have any of the phenotypic features of mucolipidosis, which were disorders present in early childhood. [primarypsychiatry.com]

• Exertional Dyspnea

  The patient currently continues to be seen at the pulmonology and hepatology outpatient consultations, and he presents intermittent jaundice and maximal exertion dyspnea (MRC scale 0). [archbronconeumol.org]

Papandreou A, Gissen P: Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. Therapeutic advances in neurological disorders 2016;9(3):216-229. [rarediseases.org]

Diagnostic workup and management of patients with suspected Niemann-Pick type C disease. The Adv Neurol Disord. 2016; 9(3): 216-29. Estados Unidos. Food and Drug Administration. [revistanutricionclinicametabolismo.org]

There is no curative treatment for NP-C. [hindawi.com]

Treatment There is currently no cure for Niemann-Pick disease. Treatment is supportive. Children usually die from infection or progressive neurological loss. There is currently no effective treatment for persons with type A. [brainfacts.org]

There is no specific treatment for Niemann-Pick Disease. Type A is a severe form of disease, with average life span of 18 months. In all other types, treatment is aimed at controlling levels of cholesterol. [jmscr.igmpublication.org]

Standard Therapies Treatment Treatment of NPC may require the coordinated efforts of a team of specialists. [rarediseases.org]

Patients with Niemann-Pick disease type B (NPDB) have a benign course and prognosis. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. [humpath.com]

Prenatal Screening Resources Depression Resources Oncology Resources Prostate Cancer Resources Patient Record Request Blood Draw Site Locator Affordability The Myriad Promise Financial Assistance Program Providers Patient Care Predicting Disease Assessing Prognosis [myriad.com]

Prognosis Infants with type A die in infancy. Children with Type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. [brainfacts.org]

Prognosis of type C depends on the time of onset of symptoms; the earlier the appearance of symptoms, worse is the prognosis. Patients with late onset of symptoms have survived up to 20 years of age. [medindia.net]

What is the prognosis of Niemann-Pick disease? Infants with type A die in infancy. Children with type B may live a comparatively long time, but may require supplemental oxygen because of lung impairment. [medicinenet.com]

[…] manifestations Associations generalized AL amyloidosis of kappa type ( 7655746 ) Ultrastructure foam cells with lamellar inclusions Laboratory Decreased acid sphingomyelinase activity Increased LDL cholesterol Increased triglycerides Decreased HDL cholesterol Etiology [humpath.com]

It is recommended that whenever there are associated soft neurological symptoms and signs in a case of psychosis, medical causes should be considered in the etiology of the presenting psychosis. PP References 1. Shulman LM, Nobel DJ, Weiner WJ. [primarypsychiatry.com]

Etiology Niemann-Pick disease (NPD) types A and B result from a deficiency of acid sphingomyelinase and lysosomal accumulation of sphingomyelin. [emedicine.medscape.com]

Niemann-Pick type C2 disease ( NP-C2 ) is a fatal hereditary disorder of unknown etiology characterized by defective egress of cholesterol from lysosomes [5]. [wikigenes.org]

Niemann-Pick disease type C (NP-C) Ataxia Ataxia is a common but nonspecific sign of NP-C. 4, 23, 24 Early-onset ataxia, ataxia in combination with other clinical symptoms 25 (“ataxia plus”; see table 1 ), ataxia without neuropathy, or ataxia of unknown etiology [cp.neurology.org]

Quality Utilising the most up-to-date information from patient registries, clinical trials and epidemiology studies to generate accurate patient population estimates. [gii.co.jp]

Epidemiology Racial differences in incidence Niemann-Pick disease (NPD) is a rare disorder that occurs in persons of all races, [4, 5] although NPD type A is more common in persons of Ashkenazi Jewish descent. [emedicine.medscape.com]

Pathophysiology In Niemann-Pick disease, an enzyme defect leads to storage of sphingomyelin and other sphingolipids in the lysosomes. The progressive build-up of lipids in the lysosomes causes the clinical findings of the disease. [idph.state.il.us]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Niemann-Pick disease type C (NPC)(1) is caused by a defect in cellular cholesterol trafficking that results in the progressive [mayomedicallaboratories.com]

The pathophysiology and mechanisms of NP-C disease. Biochim Biophys Acta. 2004 Oct 11;1685(1-3):83-7. Review. Vance JE. Lipid imbalance in the neurological disorder, Niemann-Pick C disease. FEBS Lett. 2006 Oct 9;580(23):5518-24. Epub 2006 Jun 15. [ghr.nlm.nih.gov]

Pathophysiology Niemann-Pick disease (NPD) types A and B result from the deficient activity of sphingomyelinase, a lysosomal enzyme encoded by the SMPD1 gene located on bands 11p15.1-p15.4. [1, 2] The enzymatic defect results in pathologic accumulation [emedicine.medscape.com]

Mutations in these genes lead to a shortage of functional protein, which prevents movement of cholesterol and other lipids, leading to their accumulation in cells. [medicinenet.com]

Prevention - Niemann-Pick Disease Type C Diagnosis - Niemann-Pick Disease Type C Prognosis - Niemann-Pick Disease Type C A child who shows signs of Type C before age 1 may not live to school age. [checkorphan.org]

Prevention There is no known way to prevent Niemann-Pick disease. If you have Niemann-Pick disease or have a family history of it, you can talk to a genetic counselor when deciding to have children. [winchesterhospital.org]

The development of enzyme replacement and gene therapies might also be helpful for those with type B. restricting one's diet does not prevent the buildup of lipids in cells and tissues. Prognosis Infants with type A die in infancy. [brainfacts.org]

• Classical type A is a severe neurovisceral form with very poor prognosis and limited survival; genetic prevention is crucial. • The more frequent type B (corresponding to the non-neuronopathic, chronic form with only visceral – mainly spleen, liver [medlink.com]