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- W1998310062 abstract "Objectives: The Cystic Fibrosis (CF) gene is associated with abnormal production and function of the cystic fibrosis transmembrane conductance regulator (CFTR). Despite the widespread expression of CFTR in the brain, neurological complications and malformations of the central nervous system (CNS) are rare. We report two cases of Chiari malformations in adults with CF. Methods: Case records were reviewed. Diagnoses were confirmed by brain MRI scan and neurological assessment. Results: Since 2006, 440 patients ( 17 years) have been followed up in the adult unit. Two patients were diagnosed as having Chiari Type 1 malformation. The first case involved a 26 years old female who presented with secondary amenorrhea due to hypogonadotrophic hypogonadism. Brain MRI demonstrated Chiari type I malformation with hydrocephalus requiring a third ventriculostomy and decompression of foramen magnum. The second patient was a 23 year old male who presented with type II respiratory failure and persistent headache which failed to respond to non invasive ventilation. Brain MRI confirmed Chiari I malformation without evidence of hydrocephalus. Conclusion: Chiari type I malformation is characterized by herniation of the cerebellar tonsils through the foramen magnum and can be either asymptomatic or present with a wide spectrum of neurological symptoms. Although rare (1:1000 births), Chiari type I malformation may be more frequent in patients with CF [1]. The diagnosis should be considering in patients presenting with neurological symptoms." @default.
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- W1998310062 date "2014-06-01" @default.
- W1998310062 modified "2023-09-27" @default.
- W1998310062 title "299 Chiari type I malformation in two adult patients with cystic fibrosis" @default.
- W1998310062 doi "https://doi.org/10.1016/s1569-1993(14)60434-3" @default.
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