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1,774 Possible Causes for Cerebellar Hypoplasia, Seizure

  • Lissencephaly

    It is to consider lissencephaly in the diagnosis of developmental delay with seizure disorder as many patients may be diagnosed as cerebral palsy.[ncbi.nlm.nih.gov] A newborn with a rare type of lissencephaly is reported, characterized by extreme cerebral and cerebellar hypoplasia.[ncbi.nlm.nih.gov] A sibship with a neuronal migration defect, cerebellar hypoplasia and congenital lymphedema. Neuropediatrics 24, 43–46 ( 1993). 15 DeSilva, U. et al.[doi.org]

  • Dandy-Walker Syndrome

    A 19-year-old female was referred with seizures and the Dandy-Walker syndrome. We continued the medical workup and also treated the patient with psychotherapy.[ncbi.nlm.nih.gov] hypoplasia, hydrocephalus, and posterior fossa cyst formation.[medical-dictionary.thefreedictionary.com] A young boy presented with mental retardation and seizures with extensive hairy naevi.[ncbi.nlm.nih.gov]

  • Congenital Muscular Dystrophy

    The aim of our study was to evaluate the incidence of seizure in CMD.[ncbi.nlm.nih.gov] […] atrophy [4] severe cerebellar hypoplasia, poor muscle tone, delayed in motor milestones, lack of coordination in motive skills, difficulty speaking, involuntary movements[en.wikipedia.org] (n   3), epileptiform activity without clinically overt seizures (n   2), dilated cardiomyopathy (n   2), decreased left ventricular systolic function (n   2), congenital[ncbi.nlm.nih.gov]

  • Dysequilibrium Syndrome

    […] been identified in 5 families with a phenotype characterized by moderate-to-profound mental retardation, delayed ambulation, truncal and peripheral ataxia, and occasional seizures[ncbi.nlm.nih.gov] From Wikipedia, the free encyclopedia Jump to navigation Jump to search VLDLR-associated cerebellar hypoplasia Other names Dysequilibrium syndrome, DES ; Nonprogressive cerebellar[en.wikipedia.org] Seizures have not been reported for any of the patients.[doi.org]

  • Kohlschütter-Tönz Syndrome

    We describe an 11-year-old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures, and developmental delay, which are the hallmarks of Kohlschütter-Tönz syndrome[ncbi.nlm.nih.gov] The signs and symptoms of Kohlschütter-Tönz Syndrome may include: Ataxia Cerebellar hypoplasia Cerebral atrophy Epileptic encephalopathy Hypoplasia of dental enamel Hypsarrhythmia[dovemed.com] […] more papers by this author First published: 12 January 2006 Cited by: 11 Abstract We describe an 11‐year‐old boy with hypoplastic amelogenesis imperfecta, yellow teeth, seizures[doi.org]

  • Microcephalic Primordial Dwarfism due to ZNF335 Deficiency

    PCH3 ( OMIM ) is characterized by hypotonia, hyperreflexia, microcephaly, optic atrophy, and seizures.[mendelian.co] hypoplasia Neuronal loss in central nervous system Hypoplasia of the brainstem Congenital contracture Hypoplasia of the pons Infantile encephalopathy Loss of Purkinje cells[mendelian.co] And Cerebral And Cerebellar Atrophy Microcephaly , Seizures , And Developmental Delay Microhydranencephaly Microphthalmia , Syndromic 6 Mitochondrial DNA Depletion Syndrome[familydiagnosis.com]

  • Aprosencephaly and Cerebellar Dysgenesis

    Symbol Name Synonyms Organism MEHMO mental retardation, epileptic seizures, hypogonadism and -genitalism, microcephaly and obesity syndrome Homo sapiens WikiGenes edit this[ihop-net.org] This article is about human cerebellar hypoplasia. For cerebellar hypoplasia in other animals, see cerebellar hypoplasia (non-human).[en.wikipedia.org] (petit mal seizure) generalized seizure characterized by abrupt cessation of ongoing activity with a blank stare and lost or impaired consciousness lasting on average 10-[strokecenter.org]

  • Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

    Butterfly frick appearance on face unclassified epileptic seizure a second seizure before the person has fully regained consciousness from the preceding seizure[quizlet.com] Showing of 14 80%-99% of people have these symptoms Cerebellar hypoplasia Small cerebellum Underdeveloped cerebellum [ more ] 0001321 Dandy-Walker malformation 0001305 Dolichocephaly[rarediseases.info.nih.gov] MELANOSIS, NEUROCUTANEOUS; NCMS Is also known as neuromelanosis;ncm; neurocutaneous melanosis Related symptoms: Intellectual disability Seizures Global developmental delay[mendelian.co]

  • Polymicrogyria

    In both cases, seizures seemingly originated independently in both hemispheres.[ncbi.nlm.nih.gov] Polymicrogyria has been associated with malformations such as schizencephaly, cerebellar hypoplasia, subcortical heterotopia, and periventricular nodular heterotopia.[symptoma.com] hypoplasia and arthrogryposis.[genome.jp]

  • Congenital Merosin-Positive Muscular Dystrophy

    The third patient, a 15-year-old ambulant male with normal intelligence and complex partial seizures, had polymicrogyria of both temporoparietal lobes on brain MRI.[ncbi.nlm.nih.gov] This study will review the magnetic resonance imaging (MRI) changes, determine whether certain brain MRI changes are linked to seizures and define the common seizure treatment[clinicaltrials.gov] Some authors reported many structural encephalic malformations among patients with CMD, such as cortical dysplasia, cerebellar hypoplasia, cerebellar cists and ventriculomegaly4,8[tiptiktak.com]

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