Late-onset GM2 gangliosidosis presenting as burning dysesthesias.
Two brothers with a painful neuropathy as a component of late-onset GM2 gangliosidosis of the Sandhoff type are presented. A dramatic response of the severe dysesthesias to amitriptyline and gabapentin is described. Symptomatic sensory neuropathy may be a component of late-onset GM2 gangliosidosis.
Chow
G C
GC
Division of Neurology, University of Toronto and The Hospital for Sick Children, Toronto, Ontario, Canada.
Clarke
J T
JT
Banwell
B L
BL
D000085:Acetates / Q000627:therapeutic use; D000293:Adolescent; D000588:Amines; D000639:Amitriptyline / Q000627:therapeutic use; D000700:Analgesics / Q000627:therapeutic use; D000929:Antidepressive Agents, Tricyclic / Q000627:therapeutic use; D003509:Cyclohexanecarboxylic Acids; D004359:Drug Therapy, Combination; D005073:Evoked Potentials, Somatosensory; D005528:Foot / Q000503:physiopathology; D000077206:Gabapentin; D020143:Gangliosidoses, GM2 / Q000150:complications* / Q000175:diagnosis*; D006801:Humans; D008297:Male; D010292:Paresthesia / Q000188:drug therapy / Q000209:etiology*; D012497:Sandhoff Disease / Q000150:complications* / Q000188:drug therapy; D016896:Treatment Outcome; D005680:gamma-Aminobutyric Acid
D000085:Acetates; D000588:Amines; D000700:Analgesics; D000929:Antidepressive Agents, Tricyclic; D003509:Cyclohexanecarboxylic Acids; D000639:Amitriptyline; D005680:gamma-Aminobutyric Acid; D000077206:Gabapentin