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1,026 Possible Causes for Hypomyelination, Psychomotor Retardation

  • Pelizaeus-Merzbacher Disease

    Hypomyelinating leukoencephalopathy is a heterogeneous disorder caused by mutations in several-different genes.[ncbi.nlm.nih.gov] Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive disorder with severe psychomotor retardation and neurological symptoms due to an inborn abnormality of proteolipid[ncbi.nlm.nih.gov] The typical clinical manifestations of PMD include psychomotor retardation, nystagmus, abnormal muscle tone, seizures, and cognitive impairment.[ncbi.nlm.nih.gov]

  • Pyruvate Carboxylase Deficiency

    Anatomic-pathologic studies revealed periventricular cysts and diffuse hypomyelination. Prenatal diagnosis of a further sibling was performed.[ncbi.nlm.nih.gov] The most severe form (form B) is characterized by neonatal lethal lactic acidosis, whereas patients with form A suffer chronic lactic acidosis with psychomotor retardation[ncbi.nlm.nih.gov] Hypomyelination, cystic lesions, and gliosis of the cortex or cerebellum with gray matter degeneration or necrotizing encephalopathy occur in some infants.[emedicine.medscape.com]

  • Fucosidosis

    Cranial MRI at 16 months revealed severe global hypomyelination of both supra- and infratentorial white matter but no involvement of basal ganglia or thalamus.[ncbi.nlm.nih.gov] In type 2, patients have angiokeratoma, milder psychomotor retardation and neurologic signs, longer survival, and normal salinity in the sweat.[ncbi.nlm.nih.gov] Keywords: Dysostosis multiplex, fucosidosis, hypomyelination, neuroregression, stem cell transplantation How to cite this article: Muthusamy K, Thomas MM, George RE, Alexander[pediatricneurosciences.com]

  • Cerebro-Oculo-Facio-Skeletal Syndrome Type 1

    This cell death and malfunctioning likely contributes to the symptoms of Cockayne Syndrome such as premature aging and hypomyelination of neurons. [7] DNA repair [ edit ][en.wikipedia.org] They also exhibit a predominantly postnatal growth failure, a severe psychomotor retardation, with axial hypotonia and peripheral hypertonia and neonatal feeding difficulties[ncbi.nlm.nih.gov] , severe psychomotor retardation, cerebral and cerebellar degeneration with calcification in basal ganglia and white matter, progressive joint contractures and wasting, and[medlink.com]

  • Lissencephaly

    […] describe an 11-year-old male with severe mental retardation, hypotonia, and arthrogryposis, with both type I lissencephaly and a congenital peripheral neuropathy, probably hypomyelinating[ncbi.nlm.nih.gov] Symptoms of the disorder may include unusual facial appearance, difficulty swallowing, failure to thrive, muscle spasms, seizures, and severe psychomotor retardation.[ninds.nih.gov] In general additional features encountered include 5 : hypomyelination of white matter hydrocephalus posterior cephalocele abnormal brainstem fused colliculi small pons dysmorphic[radiopaedia.org]

  • Autosomal Recessive Primary Microcephaly Type 10

    Cataract Syndrome Leukodystrophy , Hypomyelinating, 5 Madras Motor Neuron Disease Mast Syndrome Microcephalic Primordial Dwarfism Due To Znf335 Deficiency Orofaciodigital[familydiagnosis.com] Syndrome 2 Hypoparathyroidism-Retardation-Dysmorphism Syndrome Hypotonia , Infantile, With Psychomotor Retardation And Characteristic Facies 3 IFAP Syndrome With Or Without[familydiagnosis.com] Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hypomyelinating leukodystrophy characterized by infantile or childhood onset of motor developmental[pubfacts.com]

  • Alexander Disease

    It can be considered, in large part, as a deficiency of normal myelination or hypomyelination, rather than demyelination.[medifitbiologicals.com] Symptomatically, AD is associated with leukoencephalopathy with macrocephaly, seizures, and psychomotor retardation in infants, and usually leads to death within the first[ncbi.nlm.nih.gov] However, growth, psychomotor retardation, and seizures are common features of all three groups. The diagnosis is made by MRI and genetic testing.[symptoma.com]

  • Leigh's Disease

    The findings suggest that there is hypomyelination of peripheral nerves leading eventually to demyelination.[ncbi.nlm.nih.gov] A 4 1/2-month-old girl suffered from psychomotor retardation, generalized hypotonia, poor feeding, hyperreflexia, nystagmus, optical atrophy and choreoathetosis from the age[ncbi.nlm.nih.gov] A two-and-a-half-year-old male child presented with recurrent attacks of intractable vomiting, psychomotor retardation since 14 months of age.[ncbi.nlm.nih.gov]

  • West Syndrome

    All patients had striking hypomyelination of cerebrum, reduced volume of white matter and cortical atrophy on MRI.[ncbi.nlm.nih.gov] It is characterized by intractable seizures occurring almost daily, severe psychomotor retardation, poor prognosis and EEG abnormalities, known as hypsarrhythmia.[ncbi.nlm.nih.gov] retardation or deterioration.[ncbi.nlm.nih.gov]

  • Aromatic L-Amino Acid Decarboxylase Deficiency

    Of 15 MR examinations, the major changes included 6 (40%) with diffusely prominent bilateral frontal sulci, 10 (67%) with prominent frontal horns, and 12 (80%) with hypomyelination[ncbi.nlm.nih.gov] These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since[ncbi.nlm.nih.gov] These findings suggested that the severe dystonic features were caused by abnormal function of bilateral basal ganglia and severe psychomotor retardation could be due to abnormalities[ncbi.nlm.nih.gov]

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