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Washington University Experience | PERIPHERAL NEUROPATHY | 18 HEREDITARY DISORDERS | Giant Axonal Neuropathy (GAN) | 1A0 Case 1 History
History (Thanks to Chris Fuller, MD) ---- The patient was a 4 year old male with developmental delay, gait difficulties and an abnormal MRI with bilateral globus pallidus and brain stem lesions with abnormal nerve conduction studies. The patient was born full-term by spontaneous vaginal delivery. His mother received regular prenatal care and had no complications during the pregnancy. There was no history of known perinatal problems, perinatal breathing problems or seizures, and the patient did not require NICU admission for any length of time. At 2 years of age his parents reported that he was mildly developmentally delayed, walking at about 19 months, and had a 20 word vocabulary. His parents were concerned that his feet tended to "toe-in" when he walked, and they were also concerned about scoliosis. There were no problems with staring spells or episodes c/w seizures. At 4 years of age his mother reported he was about the same with respect to his development as at 2 years. His mother again denied any episodes of staring spells, jerking or stiffening spells, loss of consciousness or altered mental status. An MRI showed lesions in his brainstem and basal ganglia; however, the underlying diagnosis was not clear and extensive testing was performed. Testing relative to disorders with concomitant CNS/PNS involvement including Fabry, Krabbe, HIV, Syphilis, Porphyria, Friedreich's ataxia, mitochondrial disorders, Lyme disease and neurofibromatosis which were all negative, except for elevated lactate. A sural nerve biopsy provided the diagnosis of giant axonal neuropathy.
