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

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

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

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

Adolescent/Adult Presentation ( 15 Years of Age). [hindawi.com]

• Gaucher Disease

  After extensively studying the abnormal characteristics of the infant, Niemann came to the conclusion that the disease was a variant of Gaucher’s disease. [embryo.asu.edu]

  Gaucher disease comes in three types, each with different symptoms. [webmd.com]

  […] anemia group C, Bloom syndrome, and Gaucher disease, owing to carrier detection rates as high as ≥90% and population carrier frequencies of ≥1% ( 9 ). [frontiersin.org]

  Neonatal and infantile presentations: Biliary atresia Congenital infections Alpha-1-antitrypsin deficiency Tyrosinemia Malignancies (leukemia, lymphoma, histiocytosis) Other storage diseases (e.g., Gaucher disease, Niemann-Pick disease type A, Niemann-Pick [centogene.com]

• Anemia

  Myelodysplastic Syndromes Refractory Anemia with Unilineage Dysplasia Refractory Anemia with Ring Sideroblasts Refractory Cytopenia with Multilineage Dysplasia Refractory Anemia with Excess Blasts (RAEB) Myelodysplastic Syndrome (MDS) with Isolated del [euro-libris.ro]

  The disease, which in the United States and Canada is most common among Jewish people, begins in infancy or childhood and is characterized by enlargement of liver and spleen, anemia, lymphadenopathy, and progressive mental and physical deterioration. [medical-dictionary.thefreedictionary.com]

  P74 ) Endocrine, nutritional and metabolic diseases E70-E88 2019 ICD-10-CM Range E70-E88 Metabolic disorders Type 1 Excludes androgen insensitivity syndrome ( E34.5- ) congenital adrenal hyperplasia ( E25.0 ) Ehlers-Danlos syndrome ( Q79.6 ) hemolytic anemias [icd10data.com]

  In general, symptoms include: Anemia (low red blood cell count) Enlarged spleen and liver Easy bleeding and bruising Tiredness Bone pain and fractures Joint pain Eye problems Seizures Krabbe disease: This affects the nervous system. [webmd.com]

  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 anemia [frontiersin.org]

• Problems at School

  The most prominent are the neurological manifestations, characterized by learning disability and school failure with difficulties in writing and impaired attention and behavioral problems. [hindawi.com]

• Malnutrition

  Classification and definition of protein-calorie malnutrition. Br Med J. 1972; 3(5826):566-9. Onis M, Onyango A, Borghi E, Siyam A, Nishida C, Siekmann J. Development of a WHO growth reference for school-aged children and adolescents. [revistanutricionclinicametabolismo.org]

• Aspiration

  Later on, liver biopsy and splenic aspiration cytology was performed, which also showed same type of foamy cells. Type A is very rare and a severe infantile form with neurologic degeneration resulting in death usually by 3 years of age. [msjonline.org]

  Symptomatic Management Gastrointestinal symptoms [2, 4]: (1) patients with dysphagia become malnourished and are at risk of silent aspiration, requiring a softening and thickening of food and antibiotics to avoid aspiration pneumonia. [hindawi.com]

  This may result in the inhalation of foreign materials into the airways and lungs (aspiration pneumonia). [rarediseases.org]

  Other tests employed include: Bone marrow aspiration where the technician will take a sample of the soft tissue that is inside the bones. [medindia.net]

  Other tests might include: Bone marrow aspiration Liver biopsy (usually not needed) Slit-lamp eye exam Tests to check level of ASM At this time, there is no effective treatment for type A. Bone marrow transplants may be tried for type B. [medlineplus.gov]

• Pneumonia

  Niemann-Pick care at Mayo Clinic Symptoms Niemann-Pick signs and symptoms may include: Clumsiness and difficulty walking Excessive muscle contractions (dystonia) or eye movements Sleep disturbances Difficulty swallowing and eating Recurrent pneumonia [mayoclinic.org]

  The differential diagnosis of this pattern includes: pulmonary edema, pulmonary hemorrhage, lymphangitis, alveolar proteinosis, amyloidosis 3 and non-specific interstitial pneumonia. [archbronconeumol.org]

  This may result in the inhalation of foreign materials into the airways and lungs (aspiration pneumonia). [rarediseases.org]

  Dysphagia associated with aspiration pneumonia is a major cause of mortality. Severe and intractable epilepsy is a risk factor for poor prognosis [2, 4, 39]. [hindawi.com]

• Respiratory Insufficiency

  Marked splenomegaly, mild thrombocytopenia and partial respiratory insufficiency existed before this pregnancy. [learningcenter.ehaweb.org]

  Fatal lung infiltration with foam cells and a severe respiratory insufficiency is mostly restricted to patients having mutation in the NPC2 gene [2, 5, 6]. Early Infantile Period (Onset at 2 Months to 2 Years of Age). [hindawi.com]

• Flatulence

  The most common adverse effects associated with miglustat treatment are gastrointestinal with mild to moderate diarrhea, vomiting, flatulence, and weight loss tending to decrease over time. [hindawi.com]

• Jaundice

  Five children had severe neonatal jaundice. Early milestones were normal in… CONTINUE READING [semanticscholar.org]

  […] a history of neonatal jaundice and 30% who had hepatosplenomegaly during infancy [14]. [hindawi.com]

  In rare cases, an ultrasound examination close to the natural end of pregnancy could result in detection of fetal ascites; infants thus identified typically have severe neonatal liver disease with jaundice and persistent ascites. [centogene.com]

  Symptoms of Niemann-Pick Disease Type C (NP-C) vary with age of onset and from patient to patient.They may include: Jaundice at (or shortly after) birth An enlarged spleen and/or liver (hepatosplenamegaly) Difficulty with upward and downward eye movements [npuk.org]

  Ascites and jaundice are sometimes present. Dementia and extrapyramidal signs are often seen later. However, there is considerable variation in onset and progression of disease but the symptoms are generally milder than that in types A and B. [disorders.eyes.arizona.edu]

• Hepatomegaly

  Niemann-Pick disease type A (MIM.257200) short stature (less common) cherry-red maculae (less common) dyspnea frequent respiratory infections decreased pulmonary diffusion secondary to alveolar infiltration diffuse reticular or finely nodular infiltrations hepatomegaly [humpath.com]

  Visceral symptoms (hepatomegaly and/or splenomegaly) were present in one out of three NP-C positive and 32/235 NP-C negative patients. [academic.oup.com]

  As is typical for NPA/B disease, Joseph has splenomegaly (enlargement of the spleen) and hepatomegaly (enlargement of the liver) and his lungs are also affected. We are not sure how impacted Joseph is neurologically. [globalgenes.org]

  Symptoms include: Difficulty in moving limbs (termed dystonia ) Enlarged spleen (splenomegaly) Enlarged liver ( hepatomegaly ) Jaundice at birth or shortly after birth Learning difficulties and intellectual disability (dementia) Seizures Slurred, irregular [medindia.net]

• Liver Dysfunction

  They are known to be complicated with varying degrees of prognosis-determining liver dysfunction. It is mainly a visceral form without neurologic manifestations despite the massive visceral involvement. [humpath.com]

  Reversal of defectively sosomal transport in NPC disease ameliorates liver dysfunction and neurodegeneration in then pc1-/- mouse. Proc Natl Acad Sci. 2009;106(7):2377-82. Sriram S, Ahmed J, Saminathan S, Annie S, Raj S. [msjonline.org]

  Type B variant is characterized by hepatosplenomegaly with progressive hypersplenism, worsening atherogenic lipid profile, gradual deterioration in pulmonary function, and liver dysfunction. [pathopedia-india.com]

  Infiltration of the lungs with foam cells may accompany neonatal liver disease or occur as a primary presenting feature. Many infants are heavily affected by respiratory and liver dysfunctions. [centogene.com]

  Mortality/morbidity Patients with NPD type A develop progressive failure to thrive, sphingomyelin accumulation, liver dysfunction, and neurodegeration beginning at age 3 months and ending with death by age 3 years. [emedicine.medscape.com]

• Suggestibility

  Suggested Listings for Evaluation: DETERMINATION LISTING REMARKS Meets 110.08 Equals * Adjudicators may, at their discretion, use the Medical Evidence of Record or the listings suggested to evaluate the claim. [secure.ssa.gov]

  Subsequent analysis of measures of axial and radial diffusivity suggest that these changes are contributed to by both impaired myelination and altered axonal structure. [neurology.org]

  The identical biochemical patterns observed in NPC1 and NPC2 mutants suggest that the two NPC proteins function in a coordinate fashion in the cellular transport of cholesterol, glycolipids and other cargo. [medicinenet.com]

  The incidence of NP-C is widely reported at 1 in 120,000, although recent evidence suggests this may be an under-estimate. [npuk.org]

  This further suggests an enrichment of NP-C variants in the ZOOM population. [academic.oup.com]

• Psychiatric Manifestation

  The frequency of psychiatric manifestations significantly increased in juvenile and adolescent patients. [hindawi.com]

  Visceral, neurologic, ophthalmologic, and psychiatric manifestations should be explored in depth. 1 Details of the signs, symptoms, and disease stages of NP-C are covered extensively elsewhere. 1, 2, 15 Advances in psychiatric assessments Psychiatric [cp.neurology.org]

  Individuals have been described in the medical literature with other psychiatric manifestations such as obsessive-compulsive disorder, bipolar disorders, and hallucinations. [rarediseases.org]

• Visual Hallucination

  J.S. denied light-headedness, vertigo, akathisia, stiffness, dystonia, motor weakness, or auditory/visual hallucinations in the interval prior to the examinations. [primarypsychiatry.com]

  Psychosis may be associated with visual hallucinations, catatonia, and fluctuating symptoms [6, 17]. [hindawi.com]

• Clumsiness

  […] onset and from patient to patient.They may include: Jaundice at (or shortly after) birth An enlarged spleen and/or liver (hepatosplenamegaly) Difficulty with upward and downward eye movements (Vertical Supranuclear Gaze Palsy) Unsteadiness of gait, clumsiness [npuk.org]

  Niemann-Pick care at Mayo Clinic Symptoms Niemann-Pick signs and symptoms may include: Clumsiness and difficulty walking Excessive muscle contractions (dystonia) or eye movements Sleep disturbances Difficulty swallowing and eating Recurrent pneumonia [mayoclinic.org]

  Learning difficulties and intellectual disability (dementia) Seizures Slurred, irregular speech Sudden loss of muscle tone which may lead to falls (cataplexy) Tremors Trouble moving the eyes up and down (vertical supranuclear gaze palsy) Unsteady gait, clumsiness [medindia.net]

  By 8 he was becoming clumsy, talking in monosyllables and having trouble reading. “The doctors said it was a learning disability, then dyslexia, then other things… It wasn’t until he was 11 that we got to Niemann-Pick,” she says. [eurordis.org]

• Tremor

  […] walking (ataxia) Difficulty in posturing of limbs (dystonia) Slurred, irregular speech (dysarthria) Learning difficulties and progressive intellectual decline (cognitive dysfunction/dementia) Sudden loss of muscle tone which may lead to falls (cataplexy) Tremors [npuk.org]

  Dystonia, intention tremor, dysarthria, and hepatosplenomegaly are other features but visceral involvement may be absent. Ascites and jaundice are sometimes present. Dementia and extrapyramidal signs are often seen later. [disorders.eyes.arizona.edu]

  Some individuals may develop a tremor marked by rhythmic, jerking movements (myoclonic tremor). Sleep disturbances or irregularities such as narcolepsy or sleep apnea have also been reported. [rarediseases.org]

  […] spleen (splenomegaly) Enlarged liver ( hepatomegaly ) Jaundice at birth or shortly after birth Learning difficulties and intellectual disability (dementia) Seizures Slurred, irregular speech Sudden loss of muscle tone which may lead to falls (cataplexy) Tremors [medindia.net]

• Slurred Speech

  Neurological symptoms may include ataxia (lack of muscle control during voluntary movements such as walking), loss of muscle tone, brain degeneration, increased sensitivity to touch, spasticity (stiff muscles and awkward movement), and slurred speech. [my.clevelandclinic.org]

  They may be: Yellow skin and eye coloration Unsteady movement Trouble walking Problems swallowing Unable to look up or down Problems seeing Hearing loss Slurred speech Enlarged belly Loss of motor skills Problems swallowing Learning problems Shaking Seizures [winchesterhospital.org]

  The symptoms of the disease can include: Seizures Slurred Speech Learning Problems Jaundice Following Birth Abdominal Enlargement Hypersensitivity to Touch Repeated Lung Infections Unusual Shortness of Breath Sudden Loss of Muscle Tone Cherry Red Spot [disabled-world.com]

  Dysarthria due to a lack of coordination of the motor-speech system results in irregular slurred speech [6]. Ataxia which is associated with early loss of Purkinje cells in the cerebellum may be associated with dystonia of the hands and the face. [hindawi.com]

• Myoclonus

  Many individuals suffer from poor sleep quality due to fragmented myoclonus during slow wave sleep. Total sleep time, and time spent in different stages of sleep (REM and slow wave) may be decreased. [rarediseases.org]

  […] arthro-ophthalmopathy Stiff-Person-Syndrom ( 3 Files ) Erkrankung: Stiff-Person-Syndrom, Stiff-Man-Syndrom ICD1 10: G25.8 Synonyme: Moersch and Woltman syndrome, stiff limb syndrome, stiff trunk syndrome, PERM (progressive encephalomyelitis with rigidity and myoclonus [orphananesthesia.eu]

  Myoclonus, chorea, or tremor may also occur. [cp.neurology.org]

  Progressive ataxia in combination with dystonia of the hands and the face, dysarthria, dysphagia, and myoclonus are also present. [hindawi.com]

• Behavior Problem

  The most prominent are the neurological manifestations, characterized by learning disability and school failure with difficulties in writing and impaired attention and behavioral problems. [hindawi.com]

  Psychiatric issues that have been described in individuals with adolescent onset of NPC include learning difficulties, behavioral problems, difficulty with expressive language, and attention deficit-hyperactivity disorder. [rarediseases.org]

  Frontotemporal dementia Patients with NP-C show symptoms of progressive dementia, impaired cognitive functioning, and behavioral problems 2 consistent with those observed in frontotemporal dementia. 26 The degree of overlap between the symptoms of frontotemporal [cp.neurology.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]

Each has a dream to find the answer to NP-C which will lead to a treatment as quickly as possible. [parseghian.org]

The right level of support, treatment and care can help patients to have the best possible quality of life. [www1.actelion.com]

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]

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 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]

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]

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]

[…] 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 [mayocliniclabs.com]

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]

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]

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]

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 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. What is the prognosis? Infants with type A die in infancy. [my.clevelandclinic.org]

Ensure that parents understand that treatment for Niemann-Pick disease is not curative and that morbidity cannot always be prevented. [idph.state.il.us]