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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The case of an infant admitted for evaluation of severe emaciation with intermittent ocular anomalies including strabismus and nystagmus is reported. This case demonstrates the value of magnetic resonance imaging and transfontanellar ultrasonography for the diagnosis of diencephalic syndrome of infancy. The prognosis of this condition is usually grim, in particular because of the severe emaciation which is disproportionate with the tumour spread. Pathophysiologic hypotheses put forward to explain this cachexia are reviewed. Although cytokines such as TNF alpha are currently incriminated in the pathophysiology of cachexia induced by a number of conditions, they have not yet been studied in diencephalic syndrome of infancy. TNF alpha is a potent lipolytic agent. Excessive production of TNF alpha may be involved in the genesis of the emaciation characteristic of diencephalic syndrome. Inappropriate production of TNF alpha may respond to the administration of specific anti-TNF monoclonal antibodies. This approach may be considered as a means for treating emaciation in patients with diencephalic syndrome of infancy.
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PMID:[A case report of Russel's diencephalic cachexia]. 157 Sep 47

Russell diencephalic syndrome is a condition in which infants become emaciated in the setting of a decreased or normal caloric intake as the result of a hypothalamic astrocytoma. The diagnosis may be delayed if providers initially attribute the symptoms to a behavioral disorder. The detection of nystagmus, which is present in many patients, may be a critical diagnostic clue. The authors describe two patients in whom the discovery of nystagmus months after the onset of emaciation led to the diagnosis of Russell diencephalic syndrome. [J Pediatr Ophthalmol Strabismus. 2019;56:e79-e83.].
J Pediatr Ophthalmol Strabismus 2019 Dec 09
PMID:Nystagmus in the Diagnosis of Russell Diencephalic Syndrome. 3182 13