Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin lesions. [ncbi.nlm.nih.gov]

Presented at: World Symposium 2015; February 10-13, 2015; Orlando, FL. Abstract 156. [raredr.com]

present with nosebleeds, bruising and petechiae (because of thrombocytopenia). [patient.info]

Age of presentation depends on the type of Gaucher disease: type I (most common form) age of presentation varies widely, with the mean age of diagnosis being 21 years of age 6 some patients present in childhood while others remain asymptomatic throughout [radiopaedia.org]

• Splenomegaly

  Radiographically, hepatomegaly and splenomegaly respond more rapidly than skeletal changes. Glucosylceramide synthase inhibitors are available for patients with Type 1 GD who cannot receive enzyme replacement therapy 8. [radiopaedia.org]

  — Splenomegaly, Gaucher — Gaucher Syndrome — Syndrome, Gaucher — Gauchers Disease — Disease, Gauchers — Diseases, Gauchers — Gauchers Diseases — Glucocerebrosidosis — Glucocerebrosidoses — Glucosyl Cerebroside Lipidosis — Cerebroside Lipidoses, Glucosyl [mesh.kib.ki.se]

  […] cholesterol 272.7 dystopic (hereditary) 272.7 glycolipid 272.7 hereditary, dystopic 272.7 Lipoid - see also condition histiocytosis 272.7 Lipoidosis (see also Lipidosis) 272.7 Mucolipidosis I, II, III 272.7 Niemann-Pick disease (lipid histiocytosis) (splenomegaly [icd9data.com]

  The clinical manifestations are summarized in Table 1; splenomegaly and hepatomegaly were the main clinical symptoms. [panafrican-med-journal.com]

  People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). [slideshare.net]

• Gaucher Disease

  Unlike Gaucher disease type 1, Gaucher disease types 2 and 3 have early onset brain involvement that gets worse over time. For this reason, Gaucher disease types 2 and 3 are known as neuronopathic Gaucher disease. [gaucherdisease.org]

  Gaucher disease, the most common lysosomal storage disease, is sometimes complicated with gastroesophageal reflux disease (GERD). The present patient was a 136-day-old Japanese boy with Gaucher disease type 2. [ncbi.nlm.nih.gov]

  COMPASSIONATE ALLOWANCE INFORMATION GAUCHER DISEASE (GD) - Type 2 ALTERNATE NAMES Gaucher Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher Disease, Acute Neuronopathic Type; Disease-Type 2; GD2; Gaucher Disease, Infantile Cerebral; Gaucher [secure.ssa.gov]

  Gaucher Disease — Gaucher Disease Type 3 — Gaucher Disease, Neuronopathic — Disease, Neuronopathic Gaucher — Gaucher Disease, Type 1 — Gaucher Disease Type 1 — Gaucher Disease, Chronic — Type 1 Gaucher Disease — Gaucher Disease, Noncerebral Juvenile [mesh.kib.ki.se]

• Developmental Delay

  […] non-CNS effects respond well to enzyme replacement therapy Presentation Symptoms (will depend on the type of Gaucher's disease) Systemic Manifestations fatigue (anemia) prolonged bleeding (thrombocytopenia) fever, chills, sweats (infection) seizure, developmental [orthobullets.com]

  In addition to organomegaly and bony involvement, neurological involvement is present, including developmental delay and abnormal neurological findings - eg, increased tendon reflexes. [patient.info]

  Infants who survive this period have sustained hepatosplenomegaly and may show early signs of neurologic involvement such as hypotonia and developmental delay. [ncbi.nlm.nih.gov]

  delay 0001263 Hyperreflexia Increased reflexes 0001347 Oculomotor apraxia 0000657 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Protuberant abdomen Belly sticks out Extended belly [ more ] 0001538 Psychomotor retardation [rarediseases.info.nih.gov]

• Death in Childhood

  Type 2 (acute neuronopathic): rapidly progressive with death during infancy. Type 3 (subacute neuronopathic): less rapidly progressive neurovisceral involvement, causing death in childhood or early adulthood. [patient.info]

  Various associated clinical courses have been reported, some of which cause death in childhood or early adulthood. [emedicine.medscape.com]

• Poor Feeding

  […] difficulties Feeding problems Poor feeding [ more ] 0011968 Global developmental delay 0001263 Hyperreflexia Increased reflexes 0001347 Oculomotor apraxia 0000657 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Protuberant [rarediseases.info.nih.gov]

• Stridor

  Failure to thrive and stridor (due to laryngospasm) are also common. Rapid neurodegenerative course with extensive visceral involvement and death (usually caused by respiratory problems) within the first two years of life. [patient.info]

  Type 2 (acute neuronopathic) GD patients have hepatosplenomegaly similar to type 1, but develop also neurological manifestations (stridor, strabismus and other oculomotor abnormalities, swallowing difficulty, opisthotonus, spasticity) which cause their [neuropathology-web.org]

  Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease. [emedicine.medscape.com]

  Patients with type 2 GD may present at birth or during infancy with increased tone [ 15 ], seizures [ 16 ], strabismus, swallowing abnormalities [ 17,18 ], failure to thrive, and oculomotor apraxia; stridor due to laryngospasm are typical in infants with [panafrican-med-journal.com]

• Chronic Cough

  Pulmonary disease, usually starting in adult life, presents with chronic nonproductive cough, progressive dyspnoea and restrictive pattern [ 64 ]. [err.ersjournals.com]

• Failure to Thrive

  Failure to thrive and stridor (due to laryngospasm) are also common. Rapid neurodegenerative course with extensive visceral involvement and death (usually caused by respiratory problems) within the first two years of life. [patient.info]

  […] to thrive Faltering weight Weight faltering [ more ] 0001508 Feeding difficulties Feeding problems Poor feeding [ more ] 0011968 Global developmental delay 0001263 Hyperreflexia Increased reflexes 0001347 Oculomotor apraxia 0000657 Progressive neurologic [rarediseases.info.nih.gov]

  The patient was hospitalized for hepatosplenomegaly and failure to thrive. Her ABR showed only waves I and II. [cambridge.org]

  Two infants who presented with bulbar palsy and failure to thrive were enzymatically diagnosed at 8 months with NGD. They were started on high-dose ERT (120 IU/kg every 2 weeks). [link.springer.com]

  Failure to thrive, swallowing abnormalities, oculomotor apraxia, hepatosplenomegaly, and stridor due to laryngospasm are typical in infants with type 2 disease. [emedicine.medscape.com]

• Dysphagia

  Showing of 34 | 80%-99% of people have these symptoms Abnormal pattern of respiration Abnormal respiratory patterns Unusual breathing patterns [ more ] 0002793 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dystonia [rarediseases.info.nih.gov]

  They include: dysphagia, or difficulty swallowing problems with walking seizures These problems get worse and can ultimately be fatal. [medicalnewstoday.com]

  Dysphagia increases the risk of silent and nonsilent aspirations and lung infections [ 23 ]. Although lung involvement in Niemann–Pick disease is frequently reported, its prevalence is unknown. [err.ersjournals.com]

  Ninety one percent of IOPD patients treated with ERT have weakness and hypotonia, 91% have dysarthria, 45% have dysphagia, 36% have feeding tube dependence, 36% require assistive mobility devices, and many need oxygen, BiPAP, or mechanical ventilation [ncbi.nlm.nih.gov]

• Muscle Rigidity

  Muscle rigidity 0002063 Seizures Seizure 0001250 Thrombocytopenia Low platelet count 0001873 Trismus Lockjaw 0000211 Showing of 34 | Last updated: 5/1/2019 The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

• Trismus

  Type 2 is the infantile neuronopathic form, which is characterized by trismus, strabismus, ocular motor apraxia, opisthotonus and death by about two years. Type 3 is a juvenile neuronopathic form with a milder course. [collections.lib.utah.edu]

  0002344 Protuberant abdomen Belly sticks out Extended belly [ more ] 0001538 Psychomotor retardation 0025356 Recurrent aspiration pneumonia 0002100 Rigidity Muscle rigidity 0002063 Seizures Seizure 0001250 Thrombocytopenia Low platelet count 0001873 Trismus [rarediseases.info.nih.gov]

  Symptoms include: difficulties opening the mouth (trismus), a squint (strabismus), severe hyperextension and arching of the head, neck and spine and other symptoms and abnormal reflexes associated with the brain stem. [socialstyrelsen.se]

• Hepatosplenomegaly

  Enzyme replacement therapy and chemical chaperone therapy were successful for the skin disorders, joint contractures, hepatosplenomegaly and thrombocytopenia, but he also had GERD. Accordingly, a Nissen fundoplication with gastrostomy was performed. [ncbi.nlm.nih.gov]

  Snapshot A young boy presents with chronic fatigue and hepatosplenomegaly. Bone marrow aspirate histology is shown at the right. [medbullets.com]

  Major signs and symptoms include enlargement of the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone abnormalities such as [slideshare.net]

  The symptoms of type 1 Gaucher disease result from engorged macrophages that result in hepatosplenomegaly with resultant dysfunction of the liver and spleen. [themedicalbiochemistrypage.org]

• Hepatomegaly

  Radiographically, hepatomegaly and splenomegaly respond more rapidly than skeletal changes. Glucosylceramide synthase inhibitors are available for patients with Type 1 GD who cannot receive enzyme replacement therapy 8. [radiopaedia.org]

  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]

  Beginning in infancy or early childhood, splenomegaly, hepatomegaly, and abnormal bone growth develop. Diagnosis is made through biopsy of the liver, spleen, or bone marrow. [medical-dictionary.thefreedictionary.com]

  His irritability progressed to definite neurologic signs, and marked enlargement of the spleen developed, together with some hepatomegaly. [pediatrics.aappublications.org]

  Hepatomegaly occurs in more than 50% of patients with type 1 GD [ 12, 13 ]. It was present in 100% of our cases. [panafrican-med-journal.com]

• Hydrops Fetalis

  Features of the perinatal lethal form can include extensive swelling caused by fluid accumulation before birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities; hepatosplenomegaly; distinctive facial features; and serious neurological [slideshare.net]

  fetalis ( 9745785 ) Physiopathology As a result, glucocerebroside accumulates principally in the phagocytic cells of the body but in some forms also in the central nervous system. [humpath.com]

  A subset of this type, associated with congenital ichthyosis and hydrops fetalis, is described as neonatal lethal and results in perinatal or in utero death. Type 3 Gaucher disease is often a less rapidly progressive neurovisceral storage disease. [emedicine.medscape.com]

• Strabismus

  Type 2 Gaucher's disease Presents in infancy with increased tone, strabismus, and organomegaly. Failure to thrive and stridor (due to laryngospasm) are also common. [patient.info]

  Type 2 is the infantile neuronopathic form, which is characterized by trismus, strabismus, ocular motor apraxia, opisthotonus and death by about two years. Type 3 is a juvenile neuronopathic form with a milder course. [collections.lib.utah.edu]

  […] more ] 0002015 Dystonia 0001332 Encephalopathy 0001298 Hepatomegaly Enlarged liver 0002240 Ophthalmoplegia Eye muscle paralysis 0000602 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenomegaly Increased spleen size 0001744 Strabismus [rarediseases.info.nih.gov]

  Beside the extensive visceral involvement; neurological features comprised seizures, developmental milestones delay, hypertony and strabismus. GD type 3: this form of GD widely varies and can present in infancy or childhood. [panafrican-med-journal.com]

  Type 2 (acute neuronopathic) GD patients have hepatosplenomegaly similar to type 1, but develop also neurological manifestations (stridor, strabismus and other oculomotor abnormalities, swallowing difficulty, opisthotonus, spasticity) which cause their [neuropathology-web.org]

• Abnormal Eye Movement

  In addition to the signs and symptoms described above, these conditions can cause abnormal eye movements, seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical problems beginning in infancy. [slideshare.net]

  Google Scholar Jacobs M, Harris CM, Shawkat F, Taylor D (1992) The objective assessment of abnormal eye movements in infants and young children. Austr NZ J Ophthalmol 20: 185 - 195. [link.springer.com]

  The minimal neurologic component common to both types is abnormal eye movements in the horizontal plane (oculomotor apraxia). [scientificamerican.com]

  Symptoms usually develop by 3 months of age and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. [1] [2] [3] Many children die by 2 to 4 years of age. [1] [3] Gaucher disease [rarediseases.info.nih.gov]

• Seizure

  Other signs include: Poor development Seizures Spasticity (jerking movements) Poor ability to suck and swallow Enlarged liver and spleen Due to their shortened lifespan, babies with Gaucher disease type 2 do not survive long enough to develop other typical [gaucherdisease.org]

  Seizure 0001250 Thrombocytopenia Low platelet count 0001873 Trismus Lockjaw 0000211 Showing of 34 | Last updated: 5/1/2019 The resources below provide information about treatment options for this condition. [rarediseases.info.nih.gov]

  There are over 200 inherited disorders that are associated with seizures and prompt identification and intervention is crucial for a positive outcome. [books.google.de]

  Call your healthcare provider if you have any of these symptoms: Feeling dizzy Fainting Seizures Trouble breathing Loss of mobility Abnormal bone fractures or bone pain Call your provider if you have new symptoms, such as joint pain or seizures. [cedars-sinai.edu]

  […] skin, anemia ( GeneReviews: Gaucher Disease [Accessed 26 October 2017] ) Type I: nonneuropathic, may be mild Type II (acute infantile neuropathic Gaucher disease): affects infants within a few months of birth, usually fatal within 2 years; may have seizures [pathologyoutlines.com]

• Neurologic Manifestation

  Type 3 (subacute neuronopathic) GD is frequent in Northern Sweden and has hematological and neurological manifestations similar to type 2 but milder and more slowly progressive. GD is the first LSD to be successfully managed by enzyme replacement. [neuropathology-web.org]

  […] had slowing of the saccadic eye movements as their sole neurologic manifestation ( Table 4 ). [nature.com]

  Objectives To determine the role of HSCT in people with Gaucher disease in relation to: mortality risk associated with the procedure; efficacy in modifying the course of the disease; and arrest or regression of neurological manifestations in neuronopathic [cochranelibrary.com]

  Besides organomegaly and bony involvement, individuals with type 3 disease have neurologic involvement. The slowing of the horizontal saccades, an oculomotor finding, is often the sole neurologic manifestation. [panafrican-med-journal.com]

  At that time these patients exhibited bothvisceral and neurological manifestations from childhood to deathwhich commonly occur before they reach adulthood [5], but nowthey respond to ERT with increased well-being [6]. [docslide.us]

• Opisthotonus

  A progressively downhill course ensued, characterized by opisthotonus and respiratory difficulties, and the child died at age 7 months. [pediatrics.aappublications.org]

  Type 2 is the infantile neuronopathic form, which is characterized by trismus, strabismus, ocular motor apraxia, opisthotonus and death by about two years. Type 3 is a juvenile neuronopathic form with a milder course. [collections.lib.utah.edu]

  Type 2 (acute neuronopathic) GD patients have hepatosplenomegaly similar to type 1, but develop also neurological manifestations (stridor, strabismus and other oculomotor abnormalities, swallowing difficulty, opisthotonus, spasticity) which cause their [neuropathology-web.org]

  The neurological symptoms seen in types 2 and 3 include oculomotor apraxia (difficulty moving the eyes), opisthotonus (extreme backward arching of the spine), bulbar signs (problems with breathing, swallowing and talking) and seizures ( Beutler 2001 ; [cochranelibrary.com]

  Gaucher disease type II is characterized by severe developmental delay, cachexia, seizures, horizontal gaze palsy, spasticity, neck retroflexion, opisthotonus, cortical thumbs, and other pyramidal signs. [ncbi.nlm.nih.gov]

• Extrapyramidal Symptoms

  Extrapyramidal symptoms and medication use in Mucopolysaccharidosis type III. J Intellect Dev Disabil 2009; 34 :275-9. 10.1080/13668250903070891 [ PubMed ] [ CrossRef ] [ Google Scholar ] 14. Fraser J, Wraith JE, Delatycki MB. [ncbi.nlm.nih.gov]

• Abnormal Reflex

  Symptoms include: difficulties opening the mouth (trismus), a squint (strabismus), severe hyperextension and arching of the head, neck and spine and other symptoms and abnormal reflexes associated with the brain stem. [socialstyrelsen.se]

See Workup for more detail. [emedicine.medscape.com]

• Cytopenia

  The visceral symptoms included hepatosplenomegaly, cytopenia and growth delay, neurological features comprised seizures in the first case and developmental milestones delay associated with hypertony and squint for the second case. [panafrican-med-journal.com]

  Cytopenias are common, in particular thrombocytopenia, which is seen in >50% of patients ( 72 ). [ncbi.nlm.nih.gov]

treatment for Gaucher disease type 2. [gaucherdisease.org]

If you have questions about which treatment is right for you, talk to your healthcare professional. [rarediseases.info.nih.gov]

Measures of treatment effect In future updates, if we are able to include any trials, for dichotomous outcomes, we plan to estimate treatment effects using the risk ratio (RR). [cochranelibrary.com]

Treatment Symptomatic treatment may include blood transfusions to treat anemia, removal of the enlarged spleen, and joint replacement. [encyclopedia.com]

But treatment can help you control your symptoms. Your treatment will depend on what type of Gaucher disease you have. [cedars-sinai.edu]

[…] with this impairment may have: • Skeletal irregularities; • Delayed growth and physical development; • Eye movement disorders; • Poor ability to suck and swallow; • Enlarged liver and spleen; • Respiratory difficulties; and ICD-9: 272.7 PROGRESSION The prognosis [secure.ssa.gov]

[…] peripheral blood leukocytes Histology bone marrow aspirate shows a giant binucleate storage cell filled with glucocerebrosides which accumulate because of an hereditary deficiency of Beta-glucocerebrosidas Treatment Enzyme substitute Imiglucerase (Cerezyme) Prognosis [medbullets.com]

The prognosis of type 3 Gaucher disease depends on the severity of disease and age of onset of therapy. [emedicine.medscape.com]

Prognosis is dismal: An afflicted child usually does not live past the age of 2 years, due to the severe involvement of the nervous system. [eurogaucher.org]

The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed. [ncbi.nlm.nih.gov]

An etiologic link may exist between the inherited metabolic disorder and associated neuropsychiatric impairment. [jamanetwork.com]

Definition / general Preferable to "Gaucher's disease" Epidemiology Highest risk in Ashkenazi Jews; 1 in 15 are carriers Etiology Lysosomal storage disease caused by an autosomal recessive mutation in the β glucocerebrosidase gene (also called glucosylceramidase [pathologyoutlines.com]

Etiology Genetic disorder Disease/Diagnosis Gaucher's Disease Treatment A major change in the treatment for Gaucher disease is the availability of enzyme replacement therapy (ERT) with macrophage-targeted β-glucosidase (prepared from human placenta) in [collections.lib.utah.edu]

Kyphosismay be considered to be of a central nervous system (CNS) etiology,and hence not seen or expected to reverse with or without ERT.In conclusion, this study describes the neurological natural history ofp.L444P homozygous GD patients who underwent [docslide.us]

Definition / general Preferable to "Gaucher's disease" Epidemiology Highest risk in Ashkenazi Jews; 1 in 15 are carriers Etiology Lysosomal storage disease caused by an autosomal recessive mutation in the β glucocerebrosidase gene (also called glucosylceramidase [pathologyoutlines.com]

Introduction Autosomal recessive deficiency in B -glucocerebrosidase Epidemiology incidence most common lysosomal storage disase incidence of ~1 in 40,000 people in general population demographics more common in Ashkenazi Jewish origin Pathophysiology [orthobullets.com]

This is less rapidly progressive neurovisceral storage disease, causing death in childhood or early adulthood. [ 4 ] Epidemiology All three subtypes are inherited as autosomal recessive traits. [patient.info]

The purpose of this work is to study the epidemiological features of the disease and to highlight the diagnostic difficulties. [panafrican-med-journal.com]

Epidemiology Frequency United States Type 1 Gaucher disease more common among Jewish people of Eastern European origin; the carrier frequency in these individuals is approximately 1 per 15 population, whereas the disease frequency is 1 per 855 population [emedicine.medscape.com]

Introduction Autosomal recessive deficiency in B -glucocerebrosidase Epidemiology incidence most common lysosomal storage disase incidence of ~1 in 40,000 people in general population demographics more common in Ashkenazi Jewish origin Pathophysiology [orthobullets.com]

The pathophysiological feature of Gaucher disease is the presence of Gaucher cells derived from the monocyte‐macrophage system. [cochranelibrary.com]

[…] pulmonary capillary vessels by the Gaucher cells leads to pulmonary hypertension. [7], [8] One more mechanism has been postulated for the pulmonary hypertension in Gaucher's disease i.e. increased levels of angiotensin II. [4], [8] Although the precise Pathophysiology [ijem.in]

Wong K, Sidransky E, Verma A, Mixon T, Sandberg GD, et al. (2004) Neuropathology provides clues to the pathophysiology of Gaucher disease. Mol Genet Metab 82: 192–207. View Article Google Scholar 3. [journals.plos.org]

Pathophysiology Glucosylceramide, the accumulated glycolipid, is primarily derived from the phagocytosis and degradation of senescent leukocytes and erythrocyte membranes. [emedicine.medscape.com]

It is suggested that enzyme therapy, with thus far recommended dose, does not prevent long-term respiratory and central nervous system involvement in severe varients of Gaucher disease. [ncbi.nlm.nih.gov]

These substances prevent cells and organs from working properly. There are 3 main subtypes of Gaucher disease: Type 1 is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). [ufhealth.org]

The buildup of this fatty material within cells prevents the cells and organs from functioning properly. GD is one of several lipid storage diseases. [secure.ssa.gov]

These substances prevent cells and organs from working properly. There are three main subtypes of Gaucher disease: Type 1 is most common. It involves bone disease, anemia, an enlarged spleen and low platelets (thrombocytopenia). [mountsinai.org]