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Gaucher Disease Type 2

Glucocerebrosidase Deficiency 2


Presentation

  • 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]
  • present with nosebleeds, bruising and petechiae (because of thrombocytopenia).[patient.info]
Gaucher Disease
  • 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]
  • 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]
  • 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]
Movement Disorder
  • Physical findings: Individuals 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;[secure.ssa.gov]
  • Major signs include: Seizures Skeletal irregularities Eye movement disorders Cognitive problems Poor coordination Enlarged liver and spleen Respiratory problems Blood disorders Treatment for Gaucher Disease Types 2 and 3 There is currently no effective[gaucherdisease.org]
  • Identifier 918-1 Title Gaucher's Disease Ocular Movements Disorder of Horizontal Saccades; 1. Impaired initiation; 2. Slow velocity; 3. Arcuate trajectory; 4. Absent optokinetic nystagmus; Normal Vertical Gaze; Normal Pursuit Creator Shirley H.[collections.lib.utah.edu]
  • With an increased awareness of the connection with Parkinson disease, Gaucher disease has been diagnosed in some patients in movement disorder clinics at a later age.[emedicine.medscape.com]
Death in Childhood
  • 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]
Recurrent Respiratory Infections
  • respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent Susceptibility to respiratory infections [ more ] 0002205 Respiratory distress Breathing difficulties Difficulty breathing [ more[rarediseases.info.nih.gov]
  • respiratory infections and a variable prognosis. 3) The late-onset form, which can occur at any age starting from childhood, with slow muscular involvement, absence of cardiac involvement and less severe outcome than the classical form [ 90 ].[err.ersjournals.com]
  • Feeding difficulties, vomiting, diarrhea, cholestatic jaundice, and recurrent respiratory infections are also common. A macular cherry red spot can be seen in all infants by 12 months ( 72 ).[ncbi.nlm.nih.gov]
Feeding Difficulties
  • 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]
  • Feeding difficulties, vomiting, diarrhea, cholestatic jaundice, and recurrent respiratory infections are also common. A macular cherry red spot can be seen in all infants by 12 months ( 72 ).[ncbi.nlm.nih.gov]
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]
  • Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dystonia 0001332 Encephalopathy 0001298 Hepatomegaly Enlarged liver 0002240 Ophthalmoplegia Eye muscle paralysis 0000602 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenomegaly[rarediseases.info.nih.gov]
  • People with the cardiovascular form of Gaucher disease may also have eye abnormalities, bone disease, and mild enlargement of the spleen (splenomegaly). Gaucher disease occurs in 1 in 50,000 to 100,000 people in the general population.[ghr.nlm.nih.gov]
Respiratory Distress
  • distress Breathing difficulties Difficulty breathing [ more ] 0002098 5%-29% of people have these symptoms Cardiac arrest Heart stops beating 0001695 Percent of people who have these symptoms is not available through HPO Anemia Low number of red blood[rarediseases.info.nih.gov]
  • There was history of easy fatiguability for the last 6 months and increasing respiratory distress for last 1 month. The child's Motor and Language milestones were also found to be delayed.[ijem.in]
Cough
  • Coughing 0012735 Flexion contracture Flexed joint that cannot be straightened 0001371 Generalized myoclonic seizures 0002123 Recurrent respiratory infections Frequent respiratory infections Multiple respiratory infections respiratory infections, recurrent[rarediseases.info.nih.gov]
  • Pulmonary disease, usually starting in adult life, presents with chronic nonproductive cough, progressive dyspnoea and restrictive pattern [ 64 ].[err.ersjournals.com]
Dyspnea
  • Rodriguez, An unusual presentation of Gaucher disease inan infant with progressive dyspnea, Ochsner J. 13 (2013) 270272.[32] E. Perez-Colon, A. Sanchez-Valle, S. Patel, M.[docslide.us]
Muscle Rigidity
  • 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
  • 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]
  • 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]
  • 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]
Esotropia
  • Percent of people who have these symptoms is not available through HPO Anemia Low number of red blood cells or hemoglobin 0001903 Apnea 0002104 Autosomal recessive inheritance 0000007 Bulbar signs 0002483 Cerebral atrophy Degeneration of cerebrum 0002059 Esotropia[rarediseases.info.nih.gov]
  • Other features in addition to those above include oculomotor apraxia, esotropia, and hearing loss. The somatic problems of Gaucher type I are often present but less severe.[ncbi.nlm.nih.gov]
Flexion Contracture
  • […] paralysis 0000602 Spasticity Involuntary muscle stiffness, contraction, or spasm 0001257 Splenomegaly Increased spleen size 0001744 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 30%-79% of people have these symptoms Cough Coughing 0012735 Flexion[rarediseases.info.nih.gov]
Psychomotor Retardation
  • retardation 0025356 Recurrent aspiration pneumonia 0002100 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[rarediseases.info.nih.gov]
  • In its most common variant, patients are normal up to age one or two years, and then develop progressive peripheral neuropathy, psychomotor retardation, and blindness.[neuropathology-web.org]
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]
Dystonia
  • […] 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. 0002793 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dystonia[rarediseases.info.nih.gov]
  • NPD types C and D, referred to as the chronic neuronopathic form, have a variety of symptoms that may include grand mal seizures, loss of speech, ataxia, myoclonic jerks, dystonia, dementia, and vertical supranuclear gaze palsy.[embryo.asu.edu]
  • Subsequent studies also demonstrated improvement in dystonia, dysmetria, and dysarthria as well as slower rate of disease progression across all age groups ( 82, 83 ).[ncbi.nlm.nih.gov]
Encephalopathy
  • […] and include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and enlargement of the liver and spleen. 0002793 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Dystonia 0001332 Encephalopathy[rarediseases.info.nih.gov]
  • Type I is non-neuronopathic Type 2 is severe infantile form with encephalopathy in addition to other Gaucher clinical features Type 3 is associated with later onset neurologic features in addition to the somatic Gaucher signs and symptoms What are the[massgeneral.org]
  • In addition, although we describe the natural history of the encephalopathy associated with GD3, the patients in this study are not, strictly spoken, ‘untreated’.[journals.plos.org]
Poor Coordination
  • Major signs include: Seizures Skeletal irregularities Eye movement disorders Cognitive problems Poor coordination Enlarged liver and spleen Respiratory problems Blood disorders Treatment for Gaucher Disease Types 2 and 3 There is currently no effective[gaucherdisease.org]
  • In addition to the signs and symptoms of type 1, type 3 may involve: delayed cognitive development seizures dementia convulsions abnormal eye movements muscle twitches poor coordination Norbottnian Gaucher's Disease is a kind of type 3.[medicalnewstoday.com]
Generalized Seizure
  • Stimulus-sensitive myoclonus, generalized seizures, supranuclear gaze palsies, and cerebellar ataxia were the main clinical features.[neurology.org]
  • The other shared clinical finding among these patients was an abnormal EEG, often with generalized seizures.[nature.com]

Workup

Treatment

  • 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]
  • TREATMENT There is no effective treatment for the severe brain damage that may occur in children with GD Type 2.[secure.ssa.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]
  • Future Treatments A Gene therapie is still not developed, but scientists are researching to find a treatment to treat the disease on the gene level.[i12r-studfilesrv.informatik.tu-muenchen.de]

Prognosis

  • […] 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]
  • Surgery for bone and joint problems, or to remove the spleen Blood transfusions Support Groups For more information contact: Children's Gauchers Disease Research Fund: www.childrensgaucher.org National Gaucher Foundation: www.gaucherdisease.org Outlook (Prognosis[ufhealth.org]
  • […] burden (BMB) score may be obtained from MRI images 4 may give a "salt and pepper pattern" due to scattered involvement features of superimposed osteonecrosis metaphyseal notching of humeri pathological fractures Erlenmeyer flask deformity Treatment and prognosis[radiopaedia.org]
  • […] sphingolipids in the liver spleen bone marrow Genetics inheritance pattern autosomal recessive classification Type 1 ( B-glucocerebrosidase deficency) is most common Type 2 Type 3 (with CNS involvement) Classification Classification Type Clinical Features Prognosis[orthobullets.com]

Etiology

  • 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]

Epidemiology

  • 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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • 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]
  • 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 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]
  • […] 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, Prevention[medbullets.com]

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