Neuromuscular Case Vignettes

Case 16: Diagnosis and Discussion

Diagnosis: GBS associated with HIV infection HIV-1 Ab titer was positive HIV RNA was 61,967 copies/mL, CD4 was 189 cells/mL:  Polyneuropathy is the most common neurological manifestation of HIV infection, with prevalence as high as half but up to two thirds of the...

Case 16: Differential diagnosis

The patient presents with a clinical picture consistent with Guillain Barre Syndrome (GBS), considering the fact that the peak of weakness occurred within a period of one month followed by spontaneous improvement. Follow up nerve conduction study (demonstrated below),...

Case 15: Further diagnostic tests, discussion

Diagnosis–Eaton myasthenic syndrome (LEMS)As history and electrodiagnostic tests were suggestive for myasthenic syndrome, he underwent serological testing for that condition: Ca channel P/Q antibody: 2.16 nmol/L (normal < 0.02), Ca channel N antibody: 0.05 nmol/L...

Case 14: Diagnosis and discussion

Diagnosis: familial amyotrophic lateral sclerosis (FALS) Genetic testing for chromosome 9 open reading frame 72 (C9ORF72) showed repeat numbers of >44 and 8 (normal <30). Although FALS constitutes about 10% of  ALS patients (the other 90% are termed sporadic...