A Case of Menkes Disease First Manifested as Severe Vesicoureteral Reflux Caused by a Novel Mutation in ATP7A Gene

Menkes disease is a rare, neurodegenerative, copper metabolism disorder characterized by mutations in ATP7A gene. Clinical symptoms include epilepsy, growth delay, reduced muscle strength, skin hyperextension, hair deformation and urologic abnormalities. However, since these clinical symptoms occur 2–3 months after birth, early diagnosis of Menkes disease is very difficult for clinicians. We report here the case of a patient who initially presented urinary tract infection followed by neurologic symptoms of Menkes disease; he was accurately diagnosed via ATP7A genetic analysis and found to harbor a novel mutation. Although neurological symptoms are the primary diagnostic feature of Menkes disease, clinicians should take into account urinary abnormalities as well, which may be an important clue to the early diagnosis of these patients.

Anomalías del tracto urinario y microorganismos diferentes a Escherichia coli en la infección urinaria neonatal / Anomalies of the urinary tract and microorganism other than Escherichia coli in the neonatal urinary infection

Objetivo: verificar si existe asociación entre tipo de microorganismo aislado en recién nacidos que inician una infección del tracto urinario y la presencia de anomalías del tracto urinario. Métodos: estudio observacional, prospectivo, desde 1992 hasta 2010, de una cohorte de 427 recién nacidos que ingresaron con la primera infección del tracto urinario, de localización alta, por criterios clínicos, y que se realizaron ultrasonido renal y uretrocistografía miccional. Se analizó la asociación entre la presencia de reflujo vésico-ureteral y otras anomalías del tracto urinario, con el tipo de microorganismo causal de la infección del tracto urinario. Resultados: los aislamientos bacterianos en los urocultivos correspondieron en 402 de los pacientes a microorganismos del género Enterobacteriaceae (94,1 por ciento), liderados por la E. coli en 276 (64,6 por ciento). La prevalencia de anomalías del tracto urinario resultó ser de 23,6 x 100. El problema más prevalente fue el reflujo vésico-ureteral, presente en 82 pacientes (19,2 x 100). Se comprobó que la presencia de reflujo vésico-ureteral tuvo asociación de riesgo estadísticamente significativa con el microorganismo causal diferente a E. coli (RR: 1,56; p< 0,05). De igual manera, se relacionó la presencia de reflujo vésico-ureteral o de otro tipo de anomalía del tracto urinario, con el microorganismo causal de la infección del tracto urinario, y los resultados del análisis fueron similares (RR:1,64; p< 0,01). Conclusiones: aunque la E. coli es el microorganismo causal más frecuente de la infección del tracto urinario neonatal, cuando se obtiene un aislamiento diferente a E. coli es muy probable que el paciente sea portador de una anomalía del tracto urinario, dado que la presencia de reflujo vésico-ureteral y otras anomalías del tracto urinario se asocian significativamente a aquellos diferentes a E. coli

Objective: to confirm whether the type of microorganism isolated in newborns with initial urinary tract infection and the anomalies of the urinary tract are associated or not. Methods: prospective and observational study of a cohort of 427 newborns, who were admitted to the hospital with their first urinary infection in the upper tract based on clinical criteria, and they underwent renal ultrasound and urethrocystography. The relationship between the vesicourethral reflux and other anomalies of the urinary tract with the type of causative microorganism of the urinary tract infection was analyzed. Results: bacterial isolates in uricultures were Enterobacteriaceae genus microorganisms in 402 patients (94.1 percent), led by E. coli in 276 (64.6 percent ). The prevalence of anomalies of the urinary tract was 23.6 x 100. The most prevalent problem was vesicourethral reflux found in 82 patients (19.2 x 100). It was confirmed that the presence of vesicourethral reflux had statistically significant association, in terms of risk, with causative microorganism other than E.coli (RR: 1.56; p< 0.05). Similarly, the presence of vesicourethral reflux or of other type of anomalies in the urinary tract was related to the causative microorganism of the urinary tract infection and the results of the analysis were similar (RR:1.64; p< 0.01). Conclusions: although E.coli is the most frequent causative microorganism of the neonatal urinary tract infection, when an isolate different from E. coli is obtained, it is very likely that the patient carries some anomaly of the urinary tract since the presence of the vesicourethral reflux and other anomalies of the urinary tract are significantly associated to microorganisms other than E.coli