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]

• 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]

• Gaucher Disease

  Fetal Gaucher Disease is the perinatal lethal form of Gaucher disease. Additional Information Gaucher Disease is a condition caused by a deficiency in the lysosomal enzyme glucocerebrosidase. [medicbind.com]

  Abstract Perinatal-lethal Gaucher disease is very rare and is considered a variant of type 2 Gaucher disease that occurs in the neonatal period. [degruyter.com]

  Bronchoalveolar lavage fluid in an infant with perinatal lethal Gaucher disease Adachi, Hiroyuki; Noguchi, Atsuko; Ota, Shozo; Takahashi, Tsutomu; Nanjo, Hiroshi 2017-05-01 00:00:00 Gaucher disease is an autosomal recessive disorder resulting from mutations [deepdyve.com]

  Skip to content Gaucher disease—perinatal lethal Joe Segen 2016-11-25T21:18:39+00:00 METABOLISM Definition A distinct form of Gaucher disease type 2* (OMIM:608013) characterised by fetal onset of hydrops fetalis, neonatal distress, and death in utero. [newmedicalterms.com]

  There is significant genotypic heterogeneity in this rare subset of patients with type 2 Gaucher disease. Gaucher disease should be considered in the differential diagnosis of congenital ichthyosis in the newborn period. [ncbi.nlm.nih.gov]

• Ascites

  Name Gaucher Disease, Perinatal Lethal Synonyms GAUCHER DISEASE, COLLODION TYPE Classification genetic, metabolism, skin, sucking/swallowing Phenotypes Akinesia ; Anemia ; Anteverted nares ; Apathy ; Apnea ; Arthrogryposis multiplex congenita ; Ascites [mousephenotype.org]

  Splenomegaly Increased spleen size 0001744 Percent of people who have these symptoms is not 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 [rarediseases.info.nih.gov]

  […] facial shape Myopathy Skeletal muscle atrophy Cardiomyopathy Renal insufficiency Intellectual disability, mild Pneumonia Elevated serum creatine phosphokinase Rod-cone dystrophy Congenital thrombocytopenia Cataplexy Paralysis Neurofibrillary tangles Ascites [mendelian.co]

  Obstetric ultrasound assessment showed severe fetal hydrops with increased abdominal circumference due to ascites and elevated Middle Cerebral Artery Peak Systolic Velocity. [hindawi.com]

  There was marked fetal hydrops with a pericardial effusion, a small amount of ascites, marked hepatosplenomegaly and an enlarged, dilated, flabby heart weighing 13.8 g (expected weight 7±2.8 g). The placenta was massively enlarged weighing 640 g. [doi.org]

• Respiratory Distress

  distress ; Retrognathia ; Seizures ; Short nose ; Splenomegaly ; Strabismus ; Thoracic hypoplasia ; Thrombocytopenia ; Triangular face ; Ventriculomegaly Associated Genes GBA (Withdrawn symbols: GBA1, GLUC ) Mouse Orthologs Gba Source OMIM:608013 (names [mousephenotype.org]

  distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Strabismus Cross-eyed Squint Squint [rarediseases.info.nih.gov]

  distress Rigidity Dementia Respiratory failure Clonus Abnormality of eye movement Thrombocytopenia Tetraparesis Dysphagia Lactic acidosis Splenomegaly Hepatomegaly Metabolic acidosis Hemolytic anemia Myoclonus Growth delay Rare Symptoms - Less than 30% [mendelian.co]

  Gaucher disease type 2 often progresses to life-threatening complications such as respiratory distress or the entrance of food into the respiratory passages (aspiration pneumonia). [rarediseases.org]

  On physical examination, there was growth failure, respiratory distress, clubbing, hepatosplenomegaly, and occasional rhon... [medworm.com]

• Hepatosplenomegaly

  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]

  Growth failure Hepatosplenomegaly SUBTYPES Perinatal lethal form : Skins changes similar to ichthyosis/ collodion baby, Hepatosplenomegaly, pancytopenia. Cardiovascular form : associated with calcification of the mitral and aortic valves. [genetics4medics.com]

  *An autosomal recessive lysosomal storage disorder due to deficient activity of beta-glucocerebrosidase Clinical findings Hepatosplenomegaly, ichthyosis, arthrogryposis, and facial dysmorphism. [newmedicalterms.com]

  Less common signs of the disease are hepatosplenomegaly, ichthyosis, arthrogryposis and facial dysmorphy. [degruyter.com]

  […] 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, and hepatosplenomegaly [deepdyve.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]

• Thrombosis

  […] disease homozygous for R463H mutation in GBA gene who showed severe neurologic signs in addition to refractory thrombocytopenia, hepatosplenomagaly, direct hyperbilirubinemia, facial dysmorphy and ichthyosiform skin abnormalities in addition to having thrombosis [degruyter.com]

• Strabismus

  (see Strabismus, [[Strabismus]]): earlier onset Supranuclear Gaze Palsy : earlier onset Type 3b General Comments Lifespan : shortened (death by 3rd-4th decade of life) Decreased Intelligence Massive Hepatosplenomegaly (see Hepatomegaly, [[Hepatomegaly [mdnxs.com]

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

  The classic clinical triad that rapidly develops includes strabismus, trismus, and hyperextension of the [jamanetwork.com]

  […] symptoms 0002344 Respiratory distress Breathing difficulties Difficulty breathing [ more ] 0002098 Retrognathia Receding chin Receding lower jaw Weak chin Weak jaw [ more ] 0000278 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Strabismus [rarediseases.info.nih.gov]

  GAUCHER DISEASE, TYPE II Is also known as gd ii, gaucher disease, acute neuronopathic type;acute neuronopathic gaucher disease; infantile cerebral gaucher disease Related symptoms: Autosomal recessive inheritance Seizures Global developmental delay Strabismus [mendelian.co]

• Hydrops Fetalis

  Maladie héréditaire Métabolisme pathologie Système nerveux central pathologie Système nerveux pathologie Keyword (en) Statistical analysis Hydrops fetalis Lethal character Diagnosis Enzymopathy Fetus Human Perinatal Retrospective Gaucher disease Cerebral [pascal-francis.inist.fr]

  Antenatal scan showed hydrops fetalis and growth restriction. Cordocentesis showed severe fetal anemia. [hindawi.com]

  Skip to content Gaucher disease—perinatal lethal Joe Segen 2016-11-25T21:18:39+00:00 METABOLISM Definition A distinct form of Gaucher disease type 2* (OMIM:608013) characterised by fetal onset of hydrops fetalis, neonatal distress, and death in utero. [newmedicalterms.com]

  The most distinct features of perinatal-lethal Gaucher disease are non-immune hydrops fetalis, in utero fetal demise and neonatal distress. [degruyter.com]

  fetalis, cardiomegaly, and hepatosplenomegaly. [deepdyve.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]

• Hyperpigmentation

  […] developmental delay Loss of ability to walk Limb tremor Ankle clonus Freckling Toe walking Leukodystrophy Lower limb spasticity Abnormality of metabolism/homeostasis Cerebellar hypoplasia Sporadic Sparse hair Short telomere length Nail dystrophy Fine hair Hyperpigmentation [mendelian.co]

• Neurologic Manifestation

  In contrast, the E326K+L444P allele did not have sufficient activity to protect against the neurologic manifestations and, in combination with the inactive E233X lesion, resulted in the severe neonatal type 2 variant. [ncbi.nlm.nih.gov]

  Splenic Infarction Epidemiology : occurs rarely Clinical Abdominal Pain (see Abdominal Pain, [[Abdominal Pain]]) Neurologic Manifestations Parkinson’s Disease (see Parkinson’s Disease, [[Parkinsons Disease]]) Peripheral Polyneuropathy (see Peripheral [mdnxs.com]

  Affectedindividuals are living longer, but interventions do not appear to markedly impact the neurological manifestations. [epostersonline.com]

  Newborns with type 2 Gaucher disease glucosyl cerebroside lipidosis may present with ictiosis congenita skin at birth prior ccongenita neurologic manifestations, which could be mistaken for a congenital form of ichthyosis. [getpdffromjax.club]

  manifestations in type 2 and type 3 GD. [els.net]

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

• Pericardial Effusion

  There was marked fetal hydrops with a pericardial effusion, a small amount of ascites, marked hepatosplenomegaly and an enlarged, dilated, flabby heart weighing 13.8 g (expected weight 7±2.8 g). The placenta was massively enlarged weighing 640 g. [doi.org]

  effusion Abnormal heart valve morphology Aseptic necrosis Bipolar affective disorder Esodeviation Abnormal myocardium morphology Aortic valve calcification Vascular calcification Mitral valve calcification Decreased beta-glucocerebrosidase protein and [mendelian.co]

• Liver Biopsy

  A liver biopsy performed at 7 months of age revealed Gaucher's disease. Her clinical course was characterized by progressive spasticity, respiratory difficulties, and feeding problems. [jamanetwork.com]

  A bone marrow or liver biopsy is not necessary to establish the diagnosis. When the specific gene mutation causing Gaucher disease is known in a family, DNA testing can be used to accurately identify carriers. [genome.gov]

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]