A case of idiopathic normal pressure hydrocephalus with fragile X-associated tremor/ataxia syndrome

Clinical management of patients with fragile X-associated tremor/ataxia syndrome (FXTAS) is a challenge, and there has been not an established treatment for FXTAS, which is now treated symptomatically. Diagnosis of coexistent idiopathic normal pressure hydrocephalus (iNPH) with FXTAS is also hard because clinical and imaging features can overlap between the FXTAS patients coexistent with and without iNPH. We present a 79-year-old male genetically diagnosed with FXTAS who was successfully treated by a shunt surgery and consequently diagnosed with iNPH, and suggest the management of coexistent iNPH with FXTAS when it is clinically suspicious. •FXTAS is one of neurodegenerative disorders with a premutation of the fragile X mental retardation 1 gene.•There has been no report of a case of iNPH with FXTAS successfully treated with a shunt surgery and diagnosed with definite iNPH with improvement of his symptoms.•It is worth considering a shunt treatment for the patient with neurodegenerative disorders when iNPH is clinically suspicious for coexistent iNPH in terms of patient care.