Ptosis in late infantile tay-sachs disease

The brief communication describes a 2-year-old child who presented with delayed achievement and regression of milestones, seizures of multiple types, exaggerated response to sound, inability to see and bilateral cherry red spots. In addition to these typical manifestations of the late infantile vari...

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Veröffentlicht in:	Indian journal of pediatrics 2001-05, Vol.68 (5), p.463-465
Hauptverfasser:	DEVIDAYAL, MARWAHA, R. K, SINGH, Paramjit, TREHAN, Amita
Format:	Artikel
Sprache:	eng
Schlagworte:	Basal Ganglia - pathology Biological and medical sciences Blepharoptosis - etiology Child, Preschool Errors of metabolism Humans Lipids (lysosomal enzyme disorders, storage diseases) Magnetic Resonance Imaging Male Medical sciences Metabolic diseases Tay-Sachs Disease - complications Thalamus - pathology Tropical medicine
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Zusammenfassung:	The brief communication describes a 2-year-old child who presented with delayed achievement and regression of milestones, seizures of multiple types, exaggerated response to sound, inability to see and bilateral cherry red spots. In addition to these typical manifestations of the late infantile variety of Tay-sachs disease, unilateral ptosis was present. The magnetic resonance imaging of brain revealed abnormalities consistent with an advanced stage of the disease.
ISSN:	0019-5456 0973-7693
DOI:	10.1007/BF02723030