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64 Possible Causes for Diffuse Hypomyelination, Splenomegaly

  • Fucosidosis

    […] the symptoms are usually classified as: Type I (also called severe) begins in the first 3-18 months of life coarse facial features enlarged liver (hepatomegaly), spleen (splenomegaly[dermaamin.com] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] […] spasticity manifests coarse facies dwarfism and other muscoskeletal anomalies recurrent respiratory infections angiokeratomas organomegaly : glossomegaly , hepatomegaly , splenomegaly[radiopaedia.org]

  • Cockayne Syndrome

    This is a description of a three-year-old boy with typical features of Cockayne syndrome complicated with tetralogy of Fallot, pneumonia and hepato-splenomegaly.[ncbi.nlm.nih.gov] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[orpha.net] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[ncbi.nlm.nih.gov]

  • Perinatal Lethal Gaucher Disease

    (see Splenomegaly, [[Splenomegaly]]) Epidemiology : most common presenting manifestation Splenic Infarction Epidemiology : occurs rarely Clinical Abdominal Pain (see Abdominal[mdnxs.com] […] with ichthyosiform erythroderma and limb defects childhood apraxia of speech , see FOXP2-related speech and language disorder childhood ataxia with central nervous system hypomyelination[elbiruniblogspotcom.blogspot.com] Norrbottnian type Gaucher disease, perinatal lethal Gaucher disease, collodion type Gaucher disease, juvenile and adult, cerebral GD cerebroside lipidosis syndrome Gaucher splenomegaly[flybase.org]

  • Pyruvate Carboxylase Deficiency

    Hepatomegaly and splenomegaly could be present, while macrocephaly has also been reported.[symptoma.com] Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[ncbi.nlm.nih.gov] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com]

  • Autosomal Recessive Spastic Ataxia with Leukoencephalopathy

    Phosphate Uridylyltransferase Deficiency Utp Hexose-1-Phosphate Uridylyltransferase Deficiency GBA Gaucher Disease Cerebroside Lipidosis Syndrome Gaucher’s Disease Gaucher Splenomegaly[nxgenmdx.com] System Hypomyelination Disease include: Childhood Ataxia with diffuse CNS Hypomyelination (CACH) Childhood Ataxia with diffuse Central Nervous System Hypomyelination Leukodystrophy[australasianleukodystrophyfoundation.com] Other Clinical Names for Vanishing White Matter Disease Other clinical names of Vanishing White Matter Disease include: Childhood Ataxia with diffuse CNS Hypomyelination ([leukodystrophyresourceresearch.org]

  • Ring Chromosome 18

    A 59-year-old female presented with pancytopenia and splenomegaly.[jlc.jst.go.jp] hypomyelination.[ncbi.nlm.nih.gov] Thumb hypoplasia Preaxial polydactyly VACTERL association Pancreas fissum Hypertrophy of the lower limb Long tapering fingers Elongated, thin feet Vascular malformations Splenomegaly[molecularcytogenetics.biomedcentral.com]

  • Sialic Acid Storage Disease, Infantile Form

    Radiographically, hepatomegaly and splenomegaly respond more rapidly than skeletal changes.[radiopaedia.org] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Splenomegaly was associated with hepatomegaly except in case 1.[jmg.bmj.com]

  • Urioste Martinez-Frias Syndrome

    […] synopsis from OMIM: 57 Head And Neck Eyes: hypertelorism downslanting palpebral fissures prominent eyes Head And Neck Neck: short neck redundant nuchal skin Abdomen Spleen: splenomegaly[malacards.org] Diffuse central hypomyelination presenting as 4H syndrome caused by compound heterozygous mutations in POLR3A encoding the catalytic subunit of polymerase III .[journals.sagepub.com] […] synopsis from OMIM: 58 Head And Neck Eyes: hypertelorism downslanting palpebral fissures prominent eyes Head And Neck Neck: short neck redundant nuchal skin Abdomen Spleen: splenomegaly[malacards.org]

  • Autosomal Recessive Deafness 76

    Effects of extensive splenomegaly in patients with myelofibrosis undergoing a reduced intensity allogeneic stem cell transplantation. Br J Haematol. 2008;141:80–3. 5.[42v.posterior.us] Rapid deterioration following head trauma or febrile illness, infantile to adult onset, diffusely abnormal cerebral white matter Leukodystrophy [ 137 , 138 ] L-2-Hydroxyglutaric[cerebellumandataxias.biomedcentral.com] […] acanthocytosis, Friedreich-like ataxia, neonatal onset, absence of cerebellar atrophy Multisystem [ 95 ] Nieman Pick type C NPC1 257220 Vertical supranuclear ophtalmoplegia, ataxia, splenomegaly[cerebellumandataxias.biomedcentral.com]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Splenomegaly. [1] Some cases of inflammation causing appendicitis symptoms, but the appendix is inflamed, not infected. Splenomegaly is common.[autoinflammatory-search.org] […] with Atrophy 519 Hereditary Diffuse Leukoencephalo 526 Cerebral Amyloid Angiopathy 535 Cerebral Autosomal Dominant 541 Cerebral Autosomal Recessive 549 Pigmentary Orthochromatic[books.google.com] Hepatomegaly, splenomegaly or hepatosplenomegaly is common.[autoinflammatory-search.org]

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