Neurogenic Bladder: A Rare Autonomic Sign in a Patient With Preserved Speech Variant (Zappella Variant) Rett Syndrome

Abstract

Background: Rett syndrome is characterized by the loss of speech and purposeful hand movements, ambulation problems, and typical hand stereotypies. Preserved speech variant Rett syndrome (Zappella Variant) is a much less common form where speech is relatively preserved, from words to simple sentences. Lower urinary tract dysfunction and neurogenic bladder due to autonomic involvement have been only rarely reported in Rett syndrome. We aimed to emphasize neurogenic bladder due to autonomic dysfunction, which has very rarely been reported in the literature, in a patient with preserved speech variant Rett syndrome, a rare form of the Rett syndrome. Case presentation: A 7-year-old female patient who had been diagnosed with severe vesicoureteral reflux and neurogenic bladder when 11 months old due to the inability to urinate was suspected of suffering from Rett syndrome after intense eye contact and the stereotypic movement of hand wringing were observed. The patient could talk with phrases and walk and had purposeful hand movements. The presence of the c.961C>T (p.Arg321Trp) mutation in the C terminal region of the MECP2 gene was demonstrated with Sanger sequencing. The patient is currently 13 years old and is receiving special education and continues to be monitored for chronic renal disease at the pediatric nephrology department. Conclusion: The presence of hand stereotypies and intense eye pointing could indicate the Zappella variant Rett syndrome in a female patient who has developmental problems, can talk, has purposeful hand skills. Rett syndrome patients can also have lower urinary tract dysfunction although this is less common than cardiac, respiratory and gastrointestinal autonomic involvement. The development of intermittent urinary retention and vesicoureteral reflux may be associated with neurogenic bladder caused by autonomic involvement should be considered in these patients and one must be aware of the complications.