We report a girl with Niemann-Pick disease type B in whom short stature was recorded over a long period. Association of short stature with the presence of a polyglandular involvement in this patient is discussed. [ncbi.nlm.nih.gov]

Other clinical features include: interstitial lung disease short stature with delayed skeletal maturation ocular abnormalities (cherry red maculae) hyperlipidemia (which can lead to early onset vascular disease) The definitive diagnosis of those diseases [radiopaedia.org]

stature Delayed bone age Intellectual disabilities Short stature PROGNOSIS Individuals with Niemann-Pick Disease Type A have onset of symptoms such as failing to gain weight and grow appropriately (i.e. failure to thrive) in the first months of life. [evolvegene.com]

Onset in infancy or childhood Variable phenotype More common in Ashkenazi Jews Allelic disorder to Niemann-Pick disease type A (MIM.257200) short stature (less common) cherry-red maculae (less common) dyspnea frequent respiratory infections decreased [humpath.com]

stature Decreased body height Small stature [ more ] 0004322 Splenomegaly Increased spleen size 0001744 Showing of 15 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging. [rarediseases.info.nih.gov]

respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Sea-blue histiocytosis 0001982 Short stature Decreased body height Small [rarediseases.info.nih.gov]

Although many NPD-B patients are asymptomatic, more severely affected patients may exhibit cough, shortness of breath, and recurrent respiratory infections. 12 Cyanosis, clubbing, rales, and rhonchi may be present on physical examination in such patients [pediatrics.aappublications.org]

respiratory infections, 17 and some patients develop chronic oxygen dependence with progressive pulmonary failure. 18 The pathophysiology of the pulmonary disease is presumably related to the accumulation of sphingomyelin in the alveolar macrophages, [nature.com]

The degree of splenomegaly correlated with most aspects of disease, including hepatomegaly, growth, lipid profile, hematologic parameters, and pulmonary function. [ncbi.nlm.nih.gov]

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

We report here a unique case of a 55-year-old woman presenting with a clinical picture of Parkinson disease, severe back pain, splenomegaly, and pronounced dyspnea. Radiographic examination of the spine showed multiple vertebral fractures. [ncbi.nlm.nih.gov]

[…] spleen cardiovascular calcified atherosclerotic plaques MRI central nervous system pronounced cerebellar and mild supratentorial atrophy skeletal reduced signal in bone marrow 5 Treatment and prognosis Usually, these patients suffer from progressive dyspnea [radiopaedia.org]

Onset in infancy or childhood Variable phenotype More common in Ashkenazi Jews Allelic disorder to Niemann-Pick disease type A (MIM.257200) short stature (less common) cherry-red maculae (less common) dyspnea frequent respiratory infections decreased [humpath.com]

People with this condition experience a build up of lipids in the spleen, liver, lungs, bone marrow, and brain. 0003233 Diffuse reticular or finely nodular infiltrations 0002207 Dyspnea Trouble breathing 0002094 Foam cells with lamellar inclusion bodies [rarediseases.info.nih.gov]

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]

Type B patients also have hepatosplenomegaly and pathologic alterations of their lungs, but there are usually no central nervous system signs. [ncbi.nlm.nih.gov]

The disease is characterized by hepatosplenomegaly during infancy and the majority of patients will develop thrombocytopenia due to hypersplenism. [radiopaedia.org]

The degree of splenomegaly correlated with most aspects of disease, including hepatomegaly, growth, lipid profile, hematologic parameters, and pulmonary function. [ncbi.nlm.nih.gov]

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]

272.7 splenomegaly (cerebroside lipidosis) 272.7 Hepatomegaly (see also Hypertrophy, liver) 789.1 Gaucher's 272.7 Histiocytosis (acute) (chronic) (subacute) 277.89 lipid, lipoid (essential) 272.7 Hyperlipidosis 272.7 hereditary 272.7 Lipidosis 272.7 [icd9data.com]

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]

Another study, a systematic analysis of liver biopsies from 17 adult patients with NPD B revealed the presence of liver fibrosis in 15 patients. [ojrd.biomedcentral.com]

The patient presented unusual skin lesions of nummular eczematous dermatitis, signs of delayed puberty and stunted physical development, together with the typical symptoms involving visceral organs and lungs. [ncbi.nlm.nih.gov]

In patients who live long enough, however, neurologic disorders such as nystagmus, psychiatric disease and peripheral neuropathy may occur. [radiopaedia.org]

Type B usually occurs in the pre-teen years, with symptoms that include ataxia and peripheral neuropathy. The brain is generally not affected. Other symptoms include enlarged liver and spleen, and pulmonary difficulties. [my.clevelandclinic.org]

Peripheral neuropathy in type A Niemann-Pick disease. Acta Neuropathol. 63: 66–71 PubMed Google Scholar 21. Labrune, P., Bedossa, P., Huguet, P., Roset, F., Vanier, M. T., and Odièvre, M. 1991. [link.springer.com]

Niemann-Pick type C disease associated with peripheral neuropathy. Pediatr Neurol. 2003; 29 :242–4. [ PubMed : 14629910 ] Zervas M, Somers KL, Thrall MA, Walkley SU. Critical role for glycosphingolipids in Niemann-Pick disease type C. [ncbi.nlm.nih.gov]

neuropathy. 8, 9 Accompanying this marked phenotypic variability among patients with NP-B is a broad range of disease severity. [nature.com]

In patients who live long enough, however, neurologic disorders such as nystagmus, psychiatric disease and peripheral neuropathy may occur. [radiopaedia.org]

Vision in the first year of life is likely normal as infants have normal fixation, pupillary reactions, and following movements with no nystagmus. However, by about 2 years of age visual responsiveness may be lost. [disorders.eyes.arizona.edu]

Onset in infancy or childhood Variable phenotype More common in Ashkenazi Jews Allelic disorder to Niemann-Pick disease type A (MIM.257200) short stature (less common) cherry-red maculae (less common) dyspnea frequent respiratory infections decreased [humpath.com]

bone age Intellectual disabilities Short stature PROGNOSIS Individuals with Niemann-Pick Disease Type A have onset of symptoms such as failing to gain weight and grow appropriately (i.e. failure to thrive) in the first months of life. [evolvegene.com]

They also have short stature and slowed mineralization of bone (delayed bone age). About one-third of affected individuals have the cherry-red spot eye abnormality or neurological impairment. [ghr.nlm.nih.gov]

pattern which usually starts in the lower lobes calcified micronodules skeletal short stature with delayed skeletal maturation osteopenia CT chest smooth interlobular and intralobular septal thickening patchy ground-glass attenuation (can form " crazy [radiopaedia.org]

pattern with thickening of the interlobular septa, ground glass opacities and sometimes millimetric nodules that may be calcified. 2,8,10 Occasionally, the combination of these findings produces an HRCT image known as “crazy paving”, although these findings [archbronconeumol.org]

[…] the combination of blood tests and radiological features below is highly suggestive of this diagnosis: interstitial lung disease hepatosplenomegaly with thrombocytopenia lipid abnormalities in peripheral blood (decreased HDL-c, increased LDL-c, and hypertriglyceridemia [radiopaedia.org]

[…] of lipids in the spleen, liver, lungs, bone marrow, and brain. 0003233 Diffuse reticular or finely nodular infiltrations 0002207 Dyspnea Trouble breathing 0002094 Foam cells with lamellar inclusion bodies 0003609 Hepatomegaly Enlarged liver 0002240 Hypertriglyceridemia [rarediseases.info.nih.gov]