glycogen storage disease type IV

(redirected from Polyglucosan body disease)

glycogen storage disease type IV

A l glycogen storage disease marked by liver failure, muscular weakness, muscular contractures, and death in the first few years of life.
Synonym: Andersen disease; branching enzyme deficiency
References in periodicals archive ?
Adult polyglucosan body disease is a chronically progressive neurological disease first described in 1980.
Adult polyglucosan body disease is a clinicopathologic entity typically presenting in the fifth to seventh decades with peripheral neuropathy, upper motor neuron signs, neurogenic bladder, and dementia.
Busard and coworkers[4] investigated the value of an axillary skin biopsy for the diagnosis of adult polyglucosan body disease in a 65-year-old woman in whom the diagnosis had been established by sural nerve biopsy.
7] In contrast to adult polyglucosan body disease, in which inclusions are most prominent in myoepithelial cells of the apocrine secretory coil, Lafora disease shows inclusions in apocrine and eccrine duct cells.
The pathogenesis of the adult polyglucosan body disease appears to be heterogeneous.
In summary, adult polyglucosan body disease should be suspected in patients with a late-onset progressive disorder of the peripheral and central nervous system, especially when upper motor neuron signs, dementia, or bladder impairment is present.
A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora's disease and normal aging.
Adult polyglucosan body disease associated with an extrapyramidal syndrome.
Adult polyglucosan body disease in Ashkenazi Jewish patients carrying the [Tyr.