Late-onset GM2 gangliosidosis presenting as burning dysesthesias

Pediatr Neurol. 2001 Jul;25(1):59-61. doi: 10.1016/s0887-8994(01)00280-6.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Acetates / therapeutic use
  • Adolescent
  • Amines*
  • Amitriptyline / therapeutic use
  • Analgesics / therapeutic use
  • Antidepressive Agents, Tricyclic / therapeutic use
  • Cyclohexanecarboxylic Acids*
  • Drug Therapy, Combination
  • Evoked Potentials, Somatosensory
  • Foot / physiopathology
  • Gabapentin
  • Gangliosidoses, GM2 / complications*
  • Gangliosidoses, GM2 / diagnosis*
  • Humans
  • Male
  • Paresthesia / drug therapy
  • Paresthesia / etiology*
  • Sandhoff Disease / complications*
  • Sandhoff Disease / drug therapy
  • Treatment Outcome
  • gamma-Aminobutyric Acid*

Substances

  • Acetates
  • Amines
  • Analgesics
  • Antidepressive Agents, Tricyclic
  • Cyclohexanecarboxylic Acids
  • Amitriptyline
  • gamma-Aminobutyric Acid
  • Gabapentin