Early-onset hereditary spastic paraplegia: case report
نویسندگان
چکیده
Case presentation: Girl, 5 years old, she had not gestational and neonatal complications her parents is consanguineous. She neuropsychomotor developmental delay (NDD) dysphagia for solids at 6 months. At 2 cognitive impairment, motor with axial ataxia, appendicular hypotonia dysmetria. Her symptoms progressively worsening associated pyramidal signs. Cerebellar atrophy increased arachnoid space in the posterior fossa were identified on neuroimaging. whole genome sequencing a pathogenic variant c.395A>C,p.(Asp132Ala) EXOSC3 gene homozygosity.
منابع مشابه
Hereditary spastic paraplegia.
Hereditary spastic paraplegia (HSP) or Strümpell-Lorrain syndrome is a heterogeneous group of inherited disorders, with prevalence ranged from 4.3 to 9.6 cases per 100,000 population. A common feature of these disorders is the slowly progressive and often severe spasticity, noticeably especially in the low limbs. Conventionally, HSP is divided into two clinical groups, uncomplicated (pure spast...
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111 families, and Paskind and Stone (1933) also summarized the literature with accounts of another 36 reports from 40 families. Since then about 50 further reports have appeared, covering some 60 families, bringing the total so far to 176 reports of 215 families. Of these the majority have originated in Germany or elsewhere in Europe, but with a substantial number from the Americas. In Britain,...
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The hereditary spastic paraplegias are a group of heterogeneous disorders characterised by lower limb spasticity. Although most cases represent a ‘pure’ form, variants with additional ‘complicating’ features have been documented [1]. We report a patient with hereditary spastic paraplegia (HSP) having a demyelinating form of polyneuropathy which has not been previously associated with this condi...
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S.T. de Bot, MD B.P.C. van de Warrenburg, MD, PhD H.P.H. Kremer, MD, PhD M.A.A.P. Willemsen, MD, PhD Because the medical literature on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of HSP. The differential diagnosis of progressive spastic paraplegia strongly depends on the age ...
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ژورنال
عنوان ژورنال: Arquivos De Neuro-psiquiatria
سال: 2023
ISSN: ['1678-4227', '0004-282X']
DOI: https://doi.org/10.1055/s-0043-1774578