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129 Possible Causes for Diffuse Hypomyelination, Failure to Thrive

  • Pyruvate Carboxylase Deficiency

    Diagnosis PC deficiency is suspected in individuals with failure to thrive, developmental delay, recurrent seizures, and metabolic acidosis.[rarediseases.org] 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]

  • Cockayne Syndrome

    Of these, failure to thrive, photosensitivity, and intellectual disability (language delays) developed before 2 or 3 years of age, whereas deafness, sunken eyes, and basal[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]

  • Hypomyelinating Leukodystrophy Type 5

    Failure to thrive and microcephaly are common.[clinicalgate.com] Brain magnetic resonance imaging show the combination of a diffuse hypomyelination with superimposed periventricular white matter signal abnormalities. this study describes[ncbi.nlm.nih.gov] 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]

  • Neonatal Adrenoleukodystrophy

    Abnormal clinical features in neonatal adrenoleukodystrophy are generally present at birth, and include muscle hypotonia, severe psychomotor retardation, and failure to thrive[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] […] to thrive and severely delayed psychomotor development.[orpha.net]

  • Zellweger Syndrome

    A 7-month-old infant with failure to thrive and malnutrition developed a corneal ulcer. Fortified antibiotic eye drops were administered without improvement.[ncbi.nlm.nih.gov] Neuroanatomical sequelae include impaired neuronal migration, diffuse hypomyelination, and sensorineural degeneration.[ncbi.nlm.nih.gov] It is characterized by severe hypotonia, failure to thrive, psychomotor retardation, liver dysfunction, and sensorineural hearing impairment.[ncbi.nlm.nih.gov]

  • Propionic Acidemia

    A 15-month-old girl with propionic acidemia presented a failure to thrive and muscular hypotonia, who had been treated with diets low in leucine, valine, isoleucine, threonine[ncbi.nlm.nih.gov] Galactosemia may present with diffuse hypomyelination.[docslide.us] In the chronic progressive form, the disease presents as failure to thrive, chronic vomiting, psychomotor delay, hypotonia, seizures and movement disorders.[orpha.net]

  • Pelizaeus-Merzbacher Disease

    Magnetic resonance imaging (MRI) of the brain revealed diffuse hypomyelination [Figure 1].[annalsofian.org] Magnetic resonance imaging (MRI) of the brain had classical features of diffuse hypomyelination which is characteristic of PMD for this age group.[jpma.org.pk] A repeat brain MRI at 33 months of age confirmed the diffuse hypomyelinating pattern of the supratentorial cerebral white matter ( Figure 1B ).[omicsonline.org]

  • Severe Neonatal-Onset Encephalopathy with Microcephaly

    Failure to thrive MedGen UID: 115900 • Concept ID: C0231246 • Finding Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.[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] Abdominal pain, diarrhea, failure to thrive. Hypogonadism. [69] [70] Lymphadenopathy.[autoinflammatory-search.org]

  • Fucosidosis

    A 7-year-old female patient was admitted to our outpatient clinic with complaints of failure to thrive, loss of acquired motor skills, and generalized dystonia.[annalsofian.org] MRI showed diffuse hypomyelination and auditory brainstem responses and somatic-sensorial evoked potentials were altered.[ncbi.nlm.nih.gov] . • Typical MRI features combine bilateral globi pallidi hyperintensity on T1-weighted images that are hypointense on T2-weighted images with diffuse hypomyelination. • Proton[medlink.com]

  • Multiple Carboxylase Deficiency

    […] to thrive, seizure, coma, developmental delay, foul smelling urine, lactic acidosis, and high levels of ketones and ammonia in the blood.[en.wikipedia.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] […] to thrive, seizure, coma, developmental delay, foul smelling urine, metabolic acidosis, ketosis and hyperammonemia.[ipfs.io]

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