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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.[ncbi.nlm.nih.gov] A 4-year-old male presented with a 2-year history of epilepsy and progressive developmental regression.[ncbi.nlm.nih.gov] A 4-year-old boy presented with intractable epilepsy and developmental regression starting 1 year previously.[ncbi.nlm.nih.gov]

  • Cyclophosphamide

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

  • Ataxia

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

  • Striatonigral Degeneration

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

  • 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,[ncbi.nlm.nih.gov] Symptoms can include seizures, developmental regression or loss of skills a child has achieved, muscle tightness, speech issues, swallowing issues and vomiting.[star2.com]

  • Dyschromatosis symmetrica hereditaria

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

  • Wolcott-Rallison Syndrome

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

  • 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[ncbi.nlm.nih.gov]

  • Infantile Neuroaxonal Dystrophy

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

  • Ocular Albinism

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

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