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958 Possible Causes for Developmental Regression

  • Neuronal Ceroid Lipofuscinosis

    A patient presented with rapid developmental regression whose MRI findings suggested a leukodystrophy, but nerve, muscle, skin, and bone marrow biopsies were unrevealing.[] A 4-year-old male presented with a 2-year history of epilepsy and progressive developmental regression.[] A 4-year-old boy presented with intractable epilepsy and developmental regression starting 1 year previously.[]

  • Cyclophosphamide

    regression, leading to substantial morbidity and mortality.[] […] hyperphagic weight gain beginning during the preschool period, hypothalamic dysfunction, and central hypoventilation, and is often accompanied by personality changes and developmental[]

  • Ataxia

    Neurological or developmental regression. Multisystem involvement in addition to neurological disease. Presence of a particular neurological sign.[] Symptoms The following features are generally typical, although there is some variation between diseases: Developmental delay.[]

  • Striatonigral Degeneration

    Format Definition An autosomal recessive neurological disorder characterized by sudden childhood onset of developmental regression.[]

  • Alexander Disease

    We present a child who was considered to have an infantile onset mitochondrial disorder due to a combination of neurological symptoms and signs (developmental regression,[] Symptoms can include seizures, developmental regression or loss of skills a child has achieved, muscle tightness, speech issues, swallowing issues and vomiting.[]

  • Dyschromatosis symmetrica hereditaria

    Acral dyschromatosis with developmental regression and dystonia in a seven-year-old child: Dyschromatosis symmetrica hereditaria variant or a new syndrome?.[] Most reported cases of extracutaneous abnormalities are neurological abnormalities such as mental deterioration, dystonia, developmental regression, autistic disorder, depression[] The patient was being evaluated under neurology for progressive regression of developmental milestones, associated with feeble vocalization, difficulty in walking and dystonic[]

  • Wolcott-Rallison Syndrome

    Previously unreported phenotypic features in our patients included developmental regression after episodes of hepatic failure, and pachygyria on brain imaging.[] Many patients have recurrent episodes of hepatitis or frank hepatic failure followed by developmental regression or retardation. read more Next Generation Sequencing NGS/Del[]

  • Lafora Disease

    LD is a member of the family of progressive myoclonic epilepsies, which are a heterogeneous group of disorders characterized by myoclonic epilepsy, developmental regression[]

  • Infantile Neuroaxonal Dystrophy

    In addition, these individuals have developmental regression.[] Classical Infantile neuroaxonal dystrophy presents between 6 months to 3 years with psychomotor delay and developmental regression.[] Eventually they lose previously acquired skills (developmental regression). Children also experience progressive difficulties with movement.[]

  • Ocular Albinism

    We describe a 3-year-old male with severe hypotonia, developmental regression and progressive neurodegeneration, coarse facial features, nystagmus (from ocular albinism),[]

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