A case showing bone symptoms from infancy diagnosed with Gaucher disease after onset of progressive myoclonic epilepsy

Abstract

  Gaucher disease is an inborn error of metabolism that causes hematological abnormalities such as thrombocytopenia, hepatosplenomegaly, and bone symptoms due to decreased activity of glucocerebrosidase (GBA). We reported a case of Gaucher disease, who was diagnosed after the onset of symptoms suggesting PME, in the course bone symptoms from infancy. In the present case, the patients was a 16-year-old male. He was diagnosed with Perthes’disease due to recurring bilateral hip pain in infancy, and valproate was started for epilepsy due to generalized tonic-clonic seizures at the age of 10 years. Myoclonic seizures began at around 12 years of age and his school performance declined. After perampanel were added, generalized tonic-clonic seizures disappeared, but myoclonic seizures were not controlled. Therefore, he was referred to our hospital at the age of 14. The initial examination revealed no ocular motility disorder and no cerebellar ataxia symptoms, but myoclonus of the right upper limb was observed on a daily basis. At the age of 15, onset of cerebellar ataxia symptoms led to diagnosis of PME. GBA activity in lymphocytes was low, and analysis of the GBA gene revealed compound heterozygous mutations of NM_000157.4 (GBA1) :c.680A>G (p.N227S) and NM_000157.4 (GBA1) :c.94C>T (p.Q32*), leading to the diagnosis of Gaucher’s disease. In patients showing neurological symptoms such as epileptic seizures and poor learning performance after recurring bone symptoms, Gaucher disease should be suspected even when there are few characteristic hematological findings such as thrombocytopenia, and detailed investigations should be performed.