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

[…] disease Also disorders with massive cell destruction that overloads body's capacity to digest lipids ( thalassemia, sickle cell anemia, ITP, chronic renal failure ) Type A Definition / general : Acute neuronopathic form Most common type Occurs in infants Presents [pathologyoutlines.com]

Treatment is based on the signs and symptoms present in each person. [monarchinitiative.org]

Seizures are presented as unspecific feature in 33% of NPC patients, Seizures and cataplexy have been more often recorded among late infancy and juvenile-onset cases (37–57%) than early infancy (17%) and adolescent/adult onset (6–9%). [content.iospress.com]

Type A Niemann-Pick disease usually presents symptoms within months of birth. [medium.com]

• Pathologist

  All patients of HE-stained slides were reviewed and identified by two experienced pathologists and the representative cores were pre-marked in the paraffin blocks. [jcancer.org]

• Camping

  Camp RL, Dolled-Filhart M, Rimm DL. X-tile: a new bio-informatics tool for biomarker assessment and outcome-based cut-point optimization. Clin Cancer Res. 2004; 10 :7252-9 17. Andreou A, Vauthey JN, Cherqui D, Zimmitti G, Ribero D, Truty MJ. et al. [jcancer.org]

• Splenomegaly

  Common symptoms include hepatomegaly, splenomegaly, jaundice and vertical supranuclear gaze palsy (VSGP). 95% of NPC patients will have mutations in the NPC1 gene. [mangen.co.uk]

  The same cells involving the alveoli are associated with ground-glass opacities. 2, 13, 15, 24 Hepatosplenomegaly is the most important clinical finding in NPD type B, 11, 25 with splenomegaly being more marked than hepatomegaly. 6, 11 Splenomegaly may [scielo.br]

  […] in newborn 0006579 Psychosis 0000709 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Sea-blue histiocytosis 0001982 Seizures Seizure 0001250 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenomegaly [rarediseases.info.nih.gov]

• Muscle Weakness

  ] 0003593 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Lymphadenopathy Swollen lymph nodes 0002716 Microcytic anemia 0001935 Muscle weakness Muscular weakness 0001324 [rarediseases.info.nih.gov]

• Expressive Aphasia

  Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline. Visceromegaly seems to be less common than in type C1 ( 257220 ). [disorders.eyes.arizona.edu]

• Aphasia

  Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline. Visceromegaly seems to be less common than in type C1 ( 257220 ). [disorders.eyes.arizona.edu]

• Bradykinesia

  Other neurologic symptoms include ataxia, facial dyskinesis, bradykinesia, expressive aphasia, dysarthria and cognitive decline. Visceromegaly seems to be less common than in type C1 ( 257220 ). [disorders.eyes.arizona.edu]

• Dysautonomia

  The American College of Medical Genetics and Genomics recommends routine carrier screening for the following nine disorders in this population: Tay–Sachs disease, Canavan disease, cystic fibrosis, familial dysautonomia, mucolipidosis IV, NPD-A, Fanconi [frontiersin.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]

• Neurofibrillary Tangle

  tangles 0002185 Onset Age symptoms begin 0003674 Perseveration 0030223 Prolonged neonatal jaundice Prolonged yellowing of skin in newborn 0006579 Psychosis 0000709 Respiratory failure 0002878 Respiratory insufficiency Respiratory impairment 0002093 Sea-blue [rarediseases.info.nih.gov]

• Visceromegaly

  Visceromegaly seems to be less common than in type C1 ( 257220 ). Cholesterol esterification is impaired with accumulation in intracellular organelles. [disorders.eyes.arizona.edu]

Treatment & Management No specific treatment is known for type A and B, but symptoms are treated. [ordindia.org]

Treatment with anticonvulsants and more recent disease specific treatments as Miglustat or hydroxypropyl-β-cyclodextrin have showed a variable response. [content.iospress.com]

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. [rarediseases.info.nih.gov]

In 2006, Jiang et al., summarized that decreased serum levels of cholesterol and apoAI may indicate a poor prognosis [ 21 ]. [jcancer.org]

The prognosis for people with Type C Niemann-Pick disease varies, with some who are less severely affected living well into adulthood. [medium.com]

[…] general : Chronic form (visceral form) without nervous system involvement Highest incidence in those of Turkish, Arabic and North African descent Uncommon in Ashkenazi Jews ( Am J Hum Genet 2002;71:1413 ) Onset of hepatosplenomegaly in preteen years Good prognosis [pathologyoutlines.com]

Prognosis  Type A: Most (approx. 85%) cases being fatal by 18 months. [de.slideshare.net]

[…] signal, particularly parieto-occipital periventricular regions 3 deep grey matter and hippocampal atrophy (reported in the adult-onset patient) 4 reduced midbrain to pons ratio (not as marked as in progressive supranuclear palsy (PSP)) 5 Treatment and prognosis [radiopaedia.org]

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]

The association of diffuse pulmonary infiltration and hepatosplenomegaly can be observed in a number of diseases of varying etiologies, such as infectious diseases (tuberculosis, fungal diseases, malaria, and schistosomiasis), neoplastic diseases (lymphoma [scielo.br]

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]

The objectives of the present study were to describe the most common HRCT findings and the major clinical and epidemiological characteristics observed in these patients. [scielo.br]

Discussed topics • Introduction • History • Types • Prognosis • Incidence • Causes • Pathophysiology • Mechanism of Cholesterol Trafficking • Signs and Symptoms • Diagnosis • Treatment • Prevention • Research Direction 2 3. [de.slideshare.net]

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]

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

Metab. (2005) [Pubmed] The pathophysiology and mechanisms of NP-C disease. Sturley, S.L., Patterson, M.C., Balch, W., Liscum, L. Biochim. Biophys. [wikigenes.org]

Good pulmonary hygiene is important and precautions should be taken to prevent aspiration. References References Verot L, Chikh K, Freydi?(r)re E, Honor?(c) R, Vanier MT, Millat G. [disorders.eyes.arizona.edu]

Miglustat is classified as an enzyme inhibitor, and works by preventing the body from producing fatty substances (in the case of type C, cholesterol) so that less of it will build up in the body. [omicsonline.org]

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]

Discussed topics • Introduction • History • Types • Prognosis • Incidence • Causes • Pathophysiology • Mechanism of Cholesterol Trafficking • Signs and Symptoms • Diagnosis • Treatment • Prevention • Research Direction 2 3. [de.slideshare.net]

This heterogeneity most likely prevented crystal formation in initial crystallization trials. The protein was deglycosylated by using EndoH f enzyme. [pnas.org]