Glycogen storage disease type 1a presenting as gouty arthritis in a young female without hypoglycaemia

BackgroundGlycogen storage disease type I (GSD I) is a rare inherited metabolic disorder caused by deficient glucose-6-phosphatase (G6Pase) activity with a tendency to develop hypoglycaemia with secondary metabolic derangements including hyperlactacidemia, hyperlipidemia and hyperuricemia.Case presentationWe hereby report a rare case of a 23 year old female presenting with features of gouty arthritis attributed to be due to GSD I. The patient was admitted to the General Medicine Department, North Eastern Indira Gandhi Regional Institute of Health and Medical Sciences Hospital, Shillong, Meghalaya. The duration of arthritis was 3 years. Abdominal ultrasonography showed an enlarged liver measuring 20.64 cm with increased echo texture. Intravenous pyelogram showed multiple renal calculi on both kidneys. Fine needle aspiration cytology (FNAC) from the right metatarsophalangeal joint swelling showed abundant needle shaped birefringent crystals. With suspicion of a metabolic abnormality a liver biopsy was performed which showed a picture consistent with GSD. A glucagon stimulation (tolerance) test was performed raising the suggestion of a GSD.ConclusionPrimary gout is relatively rare among young females so secondary gout may be possible and the search for primary underlying disease should be pursued. Furthermore atypical presentations of GSD-1 without apparent hypoglycaemia should also be borne in mind. A high index of clinical suspicion while approaching unusual cases of gouty arthritis may be the only clue for resolution of diagnostic dilemma in such cases and establishment of a proper diagnosis and treatment.