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87 Possible Causes for Diffuse Hypomyelination, Hepatomegaly

  • Fucosidosis

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

  • Cockayne Syndrome

    It also showed hepatomegaly and altered vertebral bodies. The ribs and clavicles were thinned with sclerosis at the margins.[] Brain imaging reveals diffuse hypomyelination of the cerebral white matter, calcifications in the putamen, and vermian atrophy.[] Changes were compatible with diffuse white matter hypomyelination. Basal ganglia calcification was present in both, marked cerebellar atrophy in the older patient.[]

  • Zellweger Syndrome

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

  • Pyruvate Carboxylase Deficiency

    Hepatomegaly and splenomegaly could be present, while macrocephaly has also been reported.[] Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[] 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[]

  • 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[] […] with ichthyosiform erythroderma and limb defects childhood apraxia of speech , see FOXP2-related speech and language disorder childhood ataxia with central nervous system hypomyelination[] […] fetal movement ; Depressed nasal bridge ; Desquamation of skin soon after birth ; Dysphagia ; Everted lower lip vermilion ; Everted upper lip vermilion ; Hepatic failure ; Hepatomegaly[]

  • Polyglucosan Body Myopathy Type 2

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

  • Neonatal Adrenoleukodystrophy

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

  • Propionic Acidemia

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

  • Autosomal Recessive Congenital Cataract 5

    Stunted growth, hepatomegaly, hypoglycemia.[] 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[] 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[]

  • Secondary Myopathy

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

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