Expanding the PURA syndrome phenotype with manifestations in a Japanese female patient.

We report on a 15-year-old Japanese female patient with hypotonia and global developmental delay from the neonatal period who was revealed to carry a known pathogenic PURA variant (NM_005859.5:c.697_699del, p.Phe233del) by whole-exome sequencing. She had previously unreported clinical features, including a rectovestibular fistula, extremely short stature, and underweight, expanding the known phenotype of PURA syndrome.

A rare pathogen Raoultella planticola caused urinary tract infection in child with congenital anomalies of kidney and urinary tract: case report.

Raoultella planticola was previously considered an environmental organism in soil, water, and plants. However, several cases of human infection have recently been reported in association with R. planticola, some of which have been life-threatening. Most cases were in adults with reduced immunity, with few cases in children. To our knowledge, there have only been two reported cases of urinary tract infection (UTI) caused by R. planticola in children, including one case of cystitis. Here, we present the first case of UTI caused by R. planticola with congenital anomalies of kidney and urinary tract (CAKUT) in a 4-month-old male infant. The patient presented to the emergency department with fever and was diagnosed with UTI. We started third-generation cephalosporins empirically for gram-negative bacteria in the urine, presuming infection with Escherichia coli. On day 1, the patient's fever resolved immediately. On day 2, urine culture was positive for a rare pathogen, R. planticola, and we narrowed antibiotics to first-generation cephalosporins. The patient's fever did not return and he was discharged on day 7. The patient was seen in the clinic 1 week after discharge, with complete resolution of symptoms. Magnetic resonance urography and dynamic renal scintigraphy performed 2 months after discharge revealed severe bilateral hydronephroureter and obstruction of urine flow in the right kidney. As of 6 months after UTI onset, we have continued low-dose cephalexin (10 mg/kg) to prevent the recurrence of UTI and there has been no recurrence. As in this case, children with UTI caused by R. planticola may be associated with CAKUT; therefore, we should actively screen to detect CAKUT. Patients with CAKUT are at high risk of UTI recurrence, so long-term use of unnecessary broad-spectrum antibiotics should be avoided to prevent antimicrobial resistance. However, R. planticola infection is sometimes life-threatening. Hence, it is also important to use sufficiently strong antibiotics for an appropriate period. Although the optimal management of R. planticola infection in children has not been clearly established, we suggest that we can treat UTI caused by R. planticola mainly using first-generation cephalosporins.