Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0028738 (nystagmus)
 7,431 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

An 11-yr-old captive-raised male woodchuck (Marmota monax) presented with ataxia, poor balance, left-sided weakness, circling to the left and nystagmus with the fast-phase directed towards the left. The clinical signs were compatible with a central vestibular deficit syndrome. Necropsy and histologic findings revealed a meningotheliomatous meningioma centered over the ventrolateral left pons and medulla along with acute bronchopneumonia, chronic glomerulopathy, interstitial nephritis, and phthisis bulbi.
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PMID:Meningioma in a woodchuck exhibiting central vestibular deficits. 319 68

Galloway-Mowat syndrome (GMS) is an autosomal recessive disorder with a poor prognosis that was first defined as a triad of central nervous system involvement, hiatal hernia, and nephrotic syndrome. However, this syndrome is now known to have a heterogeneous clinical presentation. The nephrotic syndrome is steroid resistant and is responsible for the outcome. The combination of collapsing glomerulopathy and GMS is very rare. A 26-month-old boy presented with steroid-resistant nephrotic syndrome associated with neurologic findings, including microcephaly, psychomotor retardation, and nystagmus. Magnetic resonance imaging showed marked cerebral atrophy, optic atrophy, and hypomyelination. A renal biopsy was consistent with collapsing glomerulopathy. If collapsing glomerulopathy is associated with neurological abnormalities, especially with microcephaly, clinicians should consider GMS as a possible underlying cause.
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PMID:Collapsing Glomerulopathy in a Child with Galloway-Mowat Syndrome. 2740 57