Recognition and diagnosis of neuro-ichthyotic syndromes.

Abstract:

:The combination of neurologic disease and ichthyosis defines a heterogeneous group of rare inherited disorders that present in infancy through early adulthood. Although affected patients share the cutaneous feature of ichthyosis, there is variability in the nature and severity of neurologic disease. Impaired cognition, spasticity, sensorineural deafness, visual impairment, and/or seizures are the primary neurologic findings. Most of these disorders are caused by genetic defects in lipid metabolism, glycoprotein synthesis, or intracellular vesicle trafficking. The clinical features of some of the neuro-ichthyoses are distinct enough to allow their clinical recognition, but confirmatory biochemical or genetic tests are necessary for accurate diagnosis. Treatment of the ichthyosis is largely symptomatic, and except for Refsum's disease, there are no effective pathogenesis-based therapies for the neurologic disease.

journal_name

Semin Neurol

journal_title

Seminars in neurology

authors

Rizzo WB,Jenkens SM,Boucher P

doi

10.1055/s-0032-1306390

subject

Has Abstract

pub_date

2012-02-01 00:00:00

pages

75-84

issue

1

eissn

0271-8235

issn

1098-9021

journal_volume

32

pub_type

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