Abstract
Very recently, two siblings have been described by Poll-The, with clinical manifestations very similar to those of neonatal adrenoleukodystrophy. The parents were first cousins, which makes an autosomal recessive mode of inheritance probable. The disease has its onset in the neonatal period with severe hypotonia and seizures. Hepatomegaly may be present. Progressive sensorineural hearing deficit and visual disturbances develop during the first years of life. Nystagmus is present and eventually bilateral optic atrophy. The psychomotor development is very slow. At the age of about 2 years neurological deterioration begins. The generalized muscular hypotonia gradually develops into hypertonia with pyramidal tract signs and attacks of dystonia. Social contact diminishes; at the end stage of the disease, the patient is in a vegetative state and dies after several years.
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References
Poll-The BT, Roels F, Ogier H, Scotto J (1988) A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 42: 422–434
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© 1989 Springer-Verlag Berlin Heidelberg
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Valk, J., van der Knaap, M.S. (1989). Pseudo-neonatal Adrenoleukodystrophy. In: Magnetic Resonance of Myelin, Myelination, and Myelin Disorders. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-662-02568-0_20
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DOI: https://doi.org/10.1007/978-3-662-02568-0_20
Publisher Name: Springer, Berlin, Heidelberg
Print ISBN: 978-3-662-02570-3
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