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411 Possible Causes for Developmental Regression, Progressive Loss of Vision

  • 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] Most childhood forms of NCL are clinically characterized by progressive loss of vision as well as mental and motor deterioration, epileptic seizures, and premature death,[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]

  • Neuronal Ceroid Lipofuscinosis 7

    regression (the loss of previously acquired skills).[rarediseases.info.nih.gov] She had progressive motor and mental deterioration since the age of 2,5 years. Later she developed progressive vision loss, stereotypies, action myoclonus and epilepsy.[ncbi.nlm.nih.gov] […] average age 5 years) and may include loss of muscle coordination ( ataxia ), seizures that do not respond to medications, muscle twitches (myoclonus), visual impairment, and developmental[rarediseases.info.nih.gov]

  • Neuronal Ceroid Lipofuscinosis 4

    regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Neurological speech impairment Speech disorder Speech impairment Speech impediment[rarediseases.info.nih.gov] JB disease first manifests as ataxia, progressive developmental milestone losses, epilepsy, and posterior vision losses in children of 2-4 years of age.[scielo.br] Abnormality of metabolism/homeostasis Laboratory abnormality Metabolism abnormality [ more ] 0001939 Abnormality of movement Movement disorder Unusual movement [ more ] 0100022 Developmental[rarediseases.info.nih.gov]

  • Infantile Neuroaxonal Dystrophy 1

    Eventually they lose previously acquired skills (developmental regression).[inadcure.org] loss of vision and of physical and mental skills.[onlymyhealth.com] Other clinical symptoms include developmental regression, ataxia and ocular signs.[breathepsychology.wordpress.com]

  • Neuronal Ceroid Lipofuscinosis 9

    regression (the loss of previously acquired skills).[malacards.org] […] inability to walk 0002505 Progressive visual loss Progressive loss of vision Progressive vision loss Progressive visual impairment Slowly progressive visual loss Vision loss[rarediseases.info.nih.gov] regression (the loss of previously acquired skills) The underlying genetic cause of CLN9-NCL is unknown but it appears to be inherited in an autosomal recessive manner Treatment[dovemed.com]

  • Infantile Neuroaxonal Dystrophy

    In addition, these individuals have developmental regression.[ivami.com] The nerve endings responsible for carrying message to other parts of body are affected causing a progressive loss of vision and of physical and mental skills.[symptoma.com] Eventually they lose previously acquired skills (developmental regression).[ghr.nlm.nih.gov]

  • Neuronal Ceroid Lipofuscinosis 3

    As the disease progresses, children experience the loss of previously acquired skills (developmental regression).[marketwired.com] Like the other neuronal ceroid-lipofuscinoses, it is characterized by progressive loss of vision, seizures, and loss of cognitive and motor functions, leading to premature[ingentaconnect.com] The initial features usually include recurrent seizures (epilepsy) and the loss of previously acquired skills (developmental regression).[icdlist.com]

  • Alpers Syndrome

    All patients manifested developmental delay or regression, refractory epilepsy, and biochemical liver dysfunction.[ncbi.nlm.nih.gov] , called visual acuity Decrease in colour vision Progressive loss of central vision, eventually resulting in complete blindness Other symptoms Developing neurological features[lhsc.on.ca] Seizures may be difficult to control and unrelenting seizures can cause developmental regression as well.[ninds.nih.gov]

  • Neuronal Ceroid Lipofuscinosis 8

    The first symptoms typically appear between age two and four years, usually starting with epilepsy, followed by regression of developmental milestones, myoclonic ataxia, and[ncbi.nlm.nih.gov] JB disease first manifests as ataxia, progressive developmental milestone losses, epilepsy, and posterior vision losses in children of 2-4 years of age.[scielo.br] As the disease progresses, infants develop seizures, vision and hearing loss, mental retardation, and paralysis.[dictionnaire.sensagent.leparisien.fr]

  • Familial Infantile Bilateral Striatal Necrosis

    Clinical manifestations are developmental regression, choreoathetosis, dystonia, dysphagia, and mental retardation.[pediatricneurologybriefs.com] […] and reversed vision loss in all but one of the five consecutively treated patients with LHON. 74 EPI-743 is an analogue of coenzyme Q10 and is thought to help increase intracellular[dovepress.com] Clinical features include choreoathetosis, dystonia, rigidity, spasticity, dysphagia, optic atrophy, intellectual deficit, developmental regression of motor and verbal skills[orpha.net]

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