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]

Perinatal presentation is often with non-immune hydrops fetalis, in utero fetal demise or neonatal cardiorespiratory distress. [hindawi.com]

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]

Traditionally, the clinical presentation is considered to be stereotypic; however it can range from hydrops fetalis to the collodion baby phenotype to infants presenting after 6 months of life. [epostersonline.com]

• Asymptomatic

  Bones : manifestations can range from asymptomatic osteopenia to focal lytic or sclerotic lesions and osteonecrosis. [genetics4medics.com]

  Publisher for Academic and Scientific Resources) www.saspublisher.com More information Current Status in Latin America WHO International Consultation 15 to 17 October 2014 Munich, Germany JUSTIFICATION OF THE USE OF CT FOR INDIVIDUAL HEALTH ASSESSMENT OF ASYMPTOMATIC [healthdocbox.com]

  Some individuals develop few or no symptoms (asymptomatic); others may have serious complications. [rarediseases.org]

  Patients may be asymptomatic and still have osteopenia or osteoporosis. Growth retardation can be seen in symptomatic children with GD. [dermatologyadvisor.com]

  Gaucher Disease Type 2 (Acute) The presence of asymptomatic enlargement of the spleen with early neurologic involvement is a hallmark of Type 2 Gaucher Disease. [childrensgaucher.org]

• Pathologist

  George Kenneth Mallory was an American pathologist chiefly remembered for describing the Mallory–Weiss tear (or Mallory–Weiss syndrome). Edwin H. [pinterest.co.uk]

• Splenomegaly

  (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]

  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]

  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]

  Splenomegaly is commonly seen in GD patients and the spleen can be significantly enlarged. Massive splenomegaly may result in abdominal discomfort or fullness. Hepatomegaly is commonly seen, although cirrhosis or liver failure is rare. [dermatologyadvisor.com]

• 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]

• Fracture

  Clinical Vertebral Compression Fracture (see Vertebral Compression Fracture, [[Vertebral Compression Fracture]]) Type 2 (GD2) General Comments Acute Neuronopathic Variant of Gaucher Disease Early Onset : typically in the first year of life Lifespan : [mdnxs.com]

  Such skeletal abnormalities result in an increased susceptibility to fractures. In rare cases, affected individuals may also experience involvement of the lungs and/or kidneys. [rarediseases.org]

  Gaucher disease affects bone quality, leaving patients vulnerable to fractures which can occur after low impacts that would not damage the bone in a person without the disease. [www1.actelion.com]

  Bone disease (bone pain and fractures). Other symptoms depending on the type of Gaucher disease include heart, lung and nervous system problems. [genome.gov]

  They may also have chronic fatigue, hepatomegaly (with or without abnormal liver function test findings), bone pain, or pathologic fractures and may bruise easily because of thrombocytopenia. [emedicine.medscape.com]

• 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]

• Withdrawn

  Polyhydramnios ; Premature birth ; Progressive neurologic deterioration ; Respiratory distress ; Retrognathia ; Seizures ; Short nose ; Splenomegaly ; Strabismus ; Thoracic hypoplasia ; Thrombocytopenia ; Triangular face ; Ventriculomegaly Associated Genes GBA (Withdrawn [mousephenotype.org]

  Therefore, Ceredase has been withdrawn from the market due to similar drugs being made without having bioavailability issues from human derived cells and the transfer of diseases. [rarediseases.org]

• Cesarean Section

  section because of hydrops fetalis, cardiomegaly, and hepatosplenomegaly. [deepdyve.com]

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]

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]

Food and Drug Administration (FDA) in 1991 for the treatment of Gaucher disease type 1. It was the first ERT proven effective for the treatment of Gaucher disease type 1. [rarediseases.org]

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

The data generated will be essential in the design of any future interventional protocols, helping to identify goals of treatment and milestones to determine efficacy. [epostersonline.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]

[…] 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 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]

Hopwood, “Epidemiology of lysosomal storage diseases: an overview,” in Fabry Disease: Perspectives from 5 Years of FOS, A. Mehta, M. Beck, and G. Sunder-Plassmann, Eds., Oxford PharmaGenesis, Oxford, UK, 2006. View at: Google Scholar N. Gupta, I. M. [hindawi.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]

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. [docslide.com.br]

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]

A Randomized Study of the Prevention of Sudden Death in Patients With Coronary Artery Disease AJAD - Characterization of Verbal Operants in Patients With Alzheimers Disease Analysis of the Glucocerebrosidase (GBA) and GTP Cyclohydrolase-1 (GCH1) genes [documents.mx]