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737 Possible Causes for Frontotemporal Atrophy, Relative Macrocephaly in Childhood

  • Multiple Congenital Anomalies - Hypotonia - Seizures Type 3

    Brain imaging showed variable abnormalities, including frontotemporal atrophy, cerebellar hypoplasia, and primitive Sylvian fissures, suggesting a possible neuronal migration[] The key elements of the clinical phenotype are absolute or relative macrocephaly with a long narrow face; tall forehead; dolicocephalic head shape; an open mouth; small, simple[] Infantile bilateral striatal necrosis Infantile hypophosphatasia Infantile osteopetrosis with neuroaxonal dysplasia Infantile spasms-psychomotor retardation-progressive brain atrophy-basal[]

  • HIV Infection

    Abstract A 37 year old man presented with progressive dysarthria for 2 weeks. A week later he developed ataxia and bilateral cerebellar signs including intention tremors, dysmetria and dysdiadokokinesia. During evaluation for aetiology of cerebellar dysarthria, MRI brain revealed asymmetric altered signal intensities[…][]

    Missing: Relative Macrocephaly in Childhood
  • Autosomal Recessive Spastic Paraplegia Type 21

    […] dementia, amyotrophic lateral sclerosis, bulbospinal muscular atrophy and spinocerebellar ataxia 3, hereditary spastic paraplegias (HSPs), and so on [ 1 ].[] […] autophagy-lysosomal system, substantially contributes to the pathodynamics of some major neurodegenerative disorders: Alzheimer disease, Parkinson disease, Huntington disease, frontotemporal[]

    Missing: Relative Macrocephaly in Childhood
  • Frontotemporal Dementia

    MRI showed frontotemporal atrophy. He rapidly progressed to severe dementia 3 years after onset.[] MRI and SPECT showed a frontotemporal atrophy and hypofixation, respectively. She died 7 years after onset.[] Frontotemporal atrophy (left). Pick inclusion bodies-tau immunostain (right).[]

    Missing: Relative Macrocephaly in Childhood
  • Glutaric Aciduria

    Cerebral MRI revealed regressive subdural hematoma, but marked frontotemporal atrophy as well.[] The imaging findings consist of basal ganglia changes, frontotemporal atrophy, and retarded myelination.[] On the other hand, in the presence of bilateral frontotemporal atrophy, investigation for GA1 is essential.[]

    Missing: Relative Macrocephaly in Childhood
  • Autosomal Recessive Spastic Paraplegia Type 20

    Myopathy, isolated mitochondrial, autosomal dominant 616209 615903 Autosomal dominant CHCHD10 22q11.23 Frontotemporal dementia and/or amyotrophic lateral sclerosis 2 615911[] Clinical features that may be recognized from birth in the Amish, where the condition occurs at an increased frequency, include low birth weight, relative macrocephaly, triangular[] 615903 Autosomal dominant CHCHD10 22q11.23 Spinal muscular atrophy, Jokela type 615048 615903 Autosomal dominant CHD2 15q26.1 Epileptic encephalopathy, childhood-onset 615369[]

  • Semantic Dementia

    The original diagnosis had been of Pick's disease based on frontotemporal atrophy, but re-examination has revealed ubiquitin-positive but tau-negative inclusions as well as[] […] dementia, with typical symmetrical frontotemporal atrophy.[] All scans showed bilateral frontotemporal lobar atrophy.[]

    Missing: Relative Macrocephaly in Childhood
  • Alzheimer Disease

    Here, we report two patients who present with progressive cognitive impairment, early and prominent behavioral features, and significant frontotemporal lobe atrophy on magnetic[] Posterior cortical atrophy (the "visual variant" of Alzheimer) has predominant visuospatial dysfunction and can be an Alzheimer presentation.[] Symptomatically, frontal variant of AD (fv-AD) presents very similarly to behavioral variant frontotemporal dementia (bvFTD), which creates major challenges for differential[]

    Missing: Relative Macrocephaly in Childhood
  • Primary Lateral Sclerosis

    atrophy, and who died 7 years and 4 months after onset of the disease.[] atrophy.[] It will be important to extend this observation to other diseases that cause cortical atrophy (eg, frontotemporal dementia) and, more importantly, to disease processes that[]

    Missing: Relative Macrocephaly in Childhood
  • Stroke

    For example, a detailed study of a patient with hereditary multiple exostoses and frontotemporal dementia revealed severely impaired affective empathy associated with atrophy[] Other studies of behavioural variant frontotemporal dementia, a relatively focal neurodegenerative disease characterized by impaired social conduct and emotional function,[] […] including empathy, have also reported a role of right temporal pole and/or orbitofrontal atrophy in empathy deficits ( Rankin et al. , 2005 ; Kipps and Hodges, 2006 ; Viskontas[]

    Missing: Relative Macrocephaly in Childhood

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