Symptoma

Perinatal Lethal Gaucher Disease

Collodion-Type Gaucher Disease

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]

Type 2 Gaucher Disease can present with acuities when it presents at birth, but hepatosplenomegaly is common in all forms of type 2 Gaucher Disease. [metabolic.diseases.spot-early-signs.org]

  • Splenomegaly

    Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae ; Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short nose ; Splenomegaly [mousephenotype.org]

    (see Splenomegaly, [[Splenomegaly]]) Epidemiology : most common presenting manifestation Splenic Infarction Epidemiology : occurs rarely Clinical Abdominal Pain (see Abdominal Pain, [[Abdominal Pain]]) Neurologic Manifestations Parkinson’s Disease (see [mdnxs.com]

    0001989 Hepatomegaly Enlarged liver 0002240 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertonia 0001276 Low-set, posteriorly rotated ears 0000368 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Splenomegaly [rarediseases.info.nih.gov]

    The clinical features include weakness, dyspnea, refractory anemia, splenomegaly, periostitis and pains in the bones. Myelofibrosis is observed equally often in the two sexes and has no predilection for [jamanetwork.com]

    […] type IIIa Gaucher disease, type IIIb Gaucher disease, type IIIc Gaucher disease, Norrbottnian type Gaucher disease, perinatal lethal Gaucher disease, collodion type Gaucher disease, juvenile and adult, cerebral GD cerebroside lipidosis syndrome Gaucher splenomegaly [flybase.org]

  • Receding Chin

    […] birth Premature delivery of affected infants Preterm delivery [ more ] 0001622 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia Receding [rarediseases.info.nih.gov]

  • Cardiomegaly

    […] cells were detected in bronchoalveolar lavage fluid (BALF), and suggest that this may be a useful tool for early diagnosis.Case reportAt 36 weeks of gestation, a male infant weighing 2731 g was delivered by cesarean section because of hydrops fetalis, cardiomegaly [deepdyve.com]

    Synonyms GAUCHER DISEASE, COLLODION TYPE Classification genetic, metabolism, skin, sucking/swallowing Phenotypes Akinesia ; Anemia ; Anteverted nares ; Apathy ; Apnea ; Arthrogryposis multiplex congenita ; Ascites ; Autosomal recessive inheritance ; Cardiomegaly [mousephenotype.org]

    […] available through HPO Akinesia 0002304 Anemia Low number of red blood cells or hemoglobin 0001903 Apathy Lack of feeling, emotion, interest 0000741 Apnea 0002104 Ascites Accumulation of fluid in the abdomen 0001541 Autosomal recessive inheritance 0000007 Cardiomegaly [rarediseases.info.nih.gov]

  • Cardiomegaly

    […] cells were detected in bronchoalveolar lavage fluid (BALF), and suggest that this may be a useful tool for early diagnosis.Case reportAt 36 weeks of gestation, a male infant weighing 2731 g was delivered by cesarean section because of hydrops fetalis, cardiomegaly [deepdyve.com]

    Synonyms GAUCHER DISEASE, COLLODION TYPE Classification genetic, metabolism, skin, sucking/swallowing Phenotypes Akinesia ; Anemia ; Anteverted nares ; Apathy ; Apnea ; Arthrogryposis multiplex congenita ; Ascites ; Autosomal recessive inheritance ; Cardiomegaly [mousephenotype.org]

    […] available through HPO Akinesia 0002304 Anemia Low number of red blood cells or hemoglobin 0001903 Apathy Lack of feeling, emotion, interest 0000741 Apnea 0002104 Ascites Accumulation of fluid in the abdomen 0001541 Autosomal recessive inheritance 0000007 Cardiomegaly [rarediseases.info.nih.gov]

  • Low Set Ears

    Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set [mousephenotype.org]

    ears Low set ears Lowset ears [ more ] 0000369 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Micrognathia Little lower jaw Small jaw [rarediseases.info.nih.gov]

  • Low-Set Posteriorly Rotated Ears

    posteriorly rotated ears 0000368 Muscular hypotonia Low or weak muscle tone 0001252 Seizures Seizure 0001250 Splenomegaly Increased spleen size 0001744 Percent of people who have these symptoms is not available through HPO Akinesia 0002304 Anemia Low [rarediseases.info.nih.gov]

  • Petechiae

    […] vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set ears ; Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae [mousephenotype.org]

    0000347 Microtia Small ears Underdeveloped ears [ more ] 0008551 Narrow mouth Small mouth 0000160 Nonimmune hydrops fetalis 0001790 Open mouth Gaped jawed appearance Gaped mouthed appearance Slack jawed appearance [ more ] 0000194 Opisthotonus 0002179 Petechiae [rarediseases.info.nih.gov]

  • Eczema

    […] decubitus ulcers, varicose ulcers and dehiscent wounds; and Kerafoam[TM] Emollient Foam, indicated for softening, smoothing and removing rough scaling ictiosis congenita skin in conditions such as xerosis, ichthyosisskin cracks and fissures, dermatitis, eczema [pdffilesofjennifer.online]

  • Hypertelorism

    […] beta-glucocerebrosidase protein and activity ; Decreased fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism [mousephenotype.org]

    […] lip vermilion Drooping lower lip Outward turned lower lip [ more ] 0000232 Everted upper lip vermilion Outward turned upper lip 0010803 Hepatic failure Liver failure 0001399 Hepatosplenomegaly Enlarged liver and spleen 0001433 Hyperkeratosis 0000962 Hypertelorism [rarediseases.info.nih.gov]

    […] pneumonia Feeding difficulties Paraplegia Acrania Apnea Esotropia Babinski sign Aspiration Cardiac arrest Protuberant abdomen Acute encephalopathy Bulbar signs Abnormal pattern of respiration Abnormality of the periventricular white matter Frequent falls Hypertelorism [mendelian.co]

  • Short Nose

    Microcephaly ; Micrognathia ; Microtia ; Narrow mouth ; Nonimmune hydrops fetalis ; Open mouth ; Opisthotonus ; Petechiae ; Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short [mousephenotype.org]

    0001622 Progressive neurologic deterioration Worsening neurological symptoms 0002344 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short [rarediseases.info.nih.gov]

  • Depressed Nasal Bridge

    nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly ; Hyperkeratosis ; Hypertelorism ; Hypokinesia ; Intrauterine growth retardation ; Low-set ears [mousephenotype.org]

    nasal bridge Depressed bridge of nose Flat bridge of nose Flat nasal bridge Flat, nasal bridge Flattened nasal bridge Low nasal bridge Low nasal root [ more ] 0005280 Ectropion Eyelid turned out 0000656 Fetal akinesia sequence 0001989 Hepatomegaly Enlarged [rarediseases.info.nih.gov]

  • Low Nasal Root

    nasal root [ more ] 0005280 Ectropion Eyelid turned out 0000656 Fetal akinesia sequence 0001989 Hepatomegaly Enlarged liver 0002240 High palate Elevated palate Increased palatal height [ more ] 0000218 Hypertonia 0001276 Low-set, posteriorly rotated [rarediseases.info.nih.gov]

  • Intracranial Hemorrhage

    hemorrhage Bleeding within the skull 0002170 Neonatal death Neonatal lethal 0003811 Pancytopenia Low blood cell count 0001876 Stillbirth Stillborn 0003826 Thrombocytopenia Low platelet count 0001873 30%-79% of people have these symptoms Anteverted nares [rarediseases.info.nih.gov]

    Other symptoms include bleeding within the skull (intracranial hemorrhage), scaling of the skin (non-bullous ichthyosiform erythrodema) with a reddish appearance, and contraction of the joints in fixed, bent position (arthrogryposis multiplex congenita [rarediseases.org]

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

Management and treatment There is no treatment for this severe form of the disease. Last updated: 2/1/2012 This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. [rarediseases.info.nih.gov]

There is no treatment for this severe form of the disease. Also Known As Fetal Gaucher disease Collodion type Gaucher disease [medicbind.com]

He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy. [books.google.com]

[…] dead surface skin cells and is a treatment for several types of wart. [medicine.academic.ru]

Treatment Options SYMPTOMATIC TREATMENT Joint replacement may be required to address joint damage or limited range of motion. Analgesics may be used for pain management. [dermatologyadvisor.com]

Prognosis - Lamellar ichthyosis Not supplied. Treatment - Lamellar ichthyosis Resources - Lamellar ichthyosis Not supplied. [checkorphan.org]

University Hospital, Muenster, and d Department of Dermatology, Electron Microscopy Laboratory, University Hospital, Heidelberg, Germany E s t a b l i s h e d Fa c t s • Type II Gaucher disease (acute neuronopathic form) is a rare neonatal disease with poor prognosis [yumpu.com]

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

Importantly, approaches to presymptomatic or prospective intervention therapies and/or use of therapies with significant risk require accurate risk-benefit analyses based on the prognosis for individual patients. [ommbid.mhmedical.com]

Such distinctions very early in the Gaucher Disease course are clinically very challenging, but are of great importance in eventual prognosis since they impact the choices of therapy. [childrensgaucher.org]

The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed. 2015 Wiley Periodicals, Inc. [ncbi.nlm.nih.gov]

The clinical presentation and etiology of GD and the differential diagnoses for collodion membrane and blueberry muffin lesions are briefly reviewed. [sparrho.com]

Death usually occurs in utero or shortly after birth ( Etiology Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. [rarediseases.info.nih.gov]

Etiology GD is an autosomal recessive disorder caused by mutations in the GBA gene. [dermatologyadvisor.com]

Gaucher disease: New development in treatment and etiology. World Journal of Gastroenterology, 14, 3968–3973. CrossRef PubMed PubMedCentral Google Scholar Huang, W. J., Zhang, X., & Chen, W. W. (2015). [link.springer.com]

Epidemiology Incidence : occurs in 1 in 75k births worldwide Increased incidence in Ashkenazi Jews Physiology Autosomal Recessive Lysosomal Storage Disease : beta-glucocerebrosidase (lysosomal B glucosidase) deficiency with deposition of glucocerebrocides [mdnxs.com]

Epidemiology It is very rare with an incidence of less than 5% of GD cases. Clinical description This form is particularly severe. [rarediseases.info.nih.gov]

[…] deafness with susceptibility to aminoglycoside exposure Perrault syndrome Synonym(s): - Pallidopyramidal syndrome Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

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]

Futerman Tags: Research Letter Source Type: research Epidemiology, environmental risk factors and genetics of Parkinson's disease. [medworm.com]

Pathophysiology Clinical manifestations include hepatosplenomegaly, anemia, thrombocytopenia, and bone disease. Types 2 and 3 GD also exhibit neurologic involvement. [dermatologyadvisor.com]

Pathophysiology Ichthyosis vulgaris is characterized by onset in early childhood, usually between age 3 and 12 months, with fine scales and varying degrees of dryness of the skin. Oliver Hart from Charleston, South Carolina:. [getpdffromjax.club]

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

The pathophysiology of delirium is still poorly understood although several mechanisms have been proposed. [healthdocbox.com]

Skeletal complicationsof Gaucher disease: Pathophysiology, evaluation and treat-ment. Seminars in Hematology, 32(S1), 2027.Pastores, G. M., & Hughes, D. A. (2011). Gaucher disease.GeneReviews. Updated July 21, 2011. Available at: , G. M., Patel, M. [docslide.com.br]

The principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury. [books.google.com]

Moisturizers Prevention of overheating Eye drops (to prevent the eyes from becoming dried out) Systemic Retinoids (Isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. [ipfs.io]

Moisturizers Prevention of overheating Eye drops (to prevent the eyes from becoming dried out) Systemic Retinoids ( isotretinoin and acitretin are very effective, but careful monitoring for toxicity is required. [en.wikipedia.org]

Collaborative Meta-Analysis of Randomised Trials of Antiplatelet Therapy for Prevention of Death, Myocardial Infarction, and Stroke in High Risk Patients. ‎ [books.google.es]

Symptoms - Lamellar ichthyosis Causes - Lamellar ichthyosis Prevention - Lamellar ichthyosis Not supplied. Diagnosis - Lamellar ichthyosis Not supplied. Prognosis - Lamellar ichthyosis Not supplied. [checkorphan.org]