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87 Possible Causes for Diffuse Hypomyelination, Hepatomegaly

  • Fucosidosis

    He had a coarse face, hepatomegaly and generalized spasticity.[ncbi.nlm.nih.gov] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] Clinical signs include facial dysmorphism, dysostosis multiplex, moderate hepatomegaly, severe intellectual deficit, deafness, and according to age, angiokeratomas.[uniprot.org]

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[elsevier.es] 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]

  • Zellweger Syndrome

    […] and 9% of control fibroblast dihydroxyacetone phosphate acyltransferase activity, and one with mild facial manifestations, wide sutures, hypotonia, developmental delay, hepatomegaly[ncbi.nlm.nih.gov] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[ncbi.nlm.nih.gov] Liver disease was evident from hepatomegaly and elevated serum liver enzymes and bilirubin.[ncbi.nlm.nih.gov]

  • 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] 813 Aug 16, 2006 - 5:28 PM #5 Hi young_doc, In G6Phospahatase deficiency i.e Von-gierke's disease(glycogen storage disease type 1) -symptoms-severe fasting hypoglycemia,hepatomegaly[prep4usmle.com]

  • Perinatal Lethal Gaucher Disease

    (see Hepatomegaly, [[Hepatomegaly]]) Epidemiology : occurs in all cases Clinical Liver is Usually 2-3x the Normal Liver Size Hepatic Fibrosis (see Hepatic Fibrosis, [[Hepatic[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] […] fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly[mousephenotype.org]

  • Polyglucosan Body Myopathy Type 2

    In the liver, accumulation of polyglucosan bodies causes hepatomegaly.[knowledge.statpearls.com] MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com] Hepatomegaly decreases with age and usually disappears around puberty.[slideshare.net]

  • Neonatal Adrenoleukodystrophy

    All patients had abnormal facial features, moderate to severe hypotonia, hepatomegaly, and retinitis pigmentosa.[ncbi.nlm.nih.gov] (CACH) Childhood Ataxia with Diffuse CNS Hypomyelination (CACH or Vanishing White Matter Disease) Craniometaphysical Dysplasia with Leukoencephalopathy Cystic Leukoencephalopathy[huntershope.org] Some children have polydactyly and hepatomegaly. Psychomotor development is delayed, but children are usually able to walk and say a few words.[rarediseases.info.nih.gov]

  • Propionic Acidemia

    Some patients will develop seizures, coma, hepatomegaly, cardiomyopathy, or cognitive impairment.[visualdx.com] Galactosemia may present with diffuse hypomyelination.[docslide.us] Hyperammonemia, seizures and hepatomegaly may also be present. A small number of patients have only exhibited neurologic signs.[genedx.com]

  • Autosomal Recessive Congenital Cataract 5

    Stunted growth, hepatomegaly, hypoglycemia.[kumc.edu] In the intermediate stage (approximately 2–10 years), the white matter is diffusely abnormal with a background of diffuse hypomyelination ( Fig 2 ), in most patients associated[ajnr.org] The mother noted bilateral leukocoria in the newborn period, and developmental retardation was apparent by several months of age when microcephaly as well as 3-cm hepatomegaly[healio.com]

  • Secondary Myopathy

    Hepatomegaly and hepatic encephalopathy are common in this rare disorder.[annalsofneurosciences.org] MRI shows diffuse cerebral white matter hypomyelination in T2WI and FLAIR signal in the periventricular white matter and frontal U-fibers.[sites.google.com] Diabetes mellitus Cardiac arrhythmias Acid maltase deficiency or glycogen storage disorder type 2 Approximately 1 in 40,000 newborns Proximal girdle weakness Macroglossia, hepatomegaly[clevelandclinicmeded.com]

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