RESUMO
Background@#Six-pyruvoyl-tetrahydrobiopterin synthase (6-PTPS) deficiency is an inherited metabolic disorder which results in tetrahydrobiopterin (BH4) deficiency causing hyperphenylalaninemia.@*Objective@#This study aimed to describe the clinical, biochemical, and radiologic profiles, and neurologic and developmental outcomes of patients diagnosed with 6-pyruvoyl tetrahydrobiopterin (PTPS) deficiency through newborn screening and confirmed by BH4 loading test, pterin analysis, and gene sequencing who were following-up with the metabolic team.@*Methods@#The research was a single-center descriptive case series study design that was done at the Philippine General Hospital, a tertiary government hospital. The clinical, biochemical, radiologic profiles and neurodevelopmental evaluation of each patient were described.@*Results@#Nine patients from 1 year 2 months to 14 years 5 months of age were enrolled in the study. Clinical manifestations before treatment were hypotonia, poor suck, and seizure. The most common clinical manifestation even after treatment initiation was seizure. The mean phenylalanine level on newborn screening was 990.68 umol/L, but after treatment was started, mean levels ranged from 75.69 to 385.09 umol/L. Two of the patients had focal atrophy of the posterior lobe on brain imaging. Pathogenic variants on molecular analysis were all missense, with two predominant variants, c.155A>G and c.58T>C. Eight of the nine patients had varying degrees of developmental delay or intellectual disability, while the remaining patient had signs of a learning disorder. @*Conclusion@#Newborn screening has played a crucial role in the early identification and management of patients with hyperphenylalaninemia due to 6-PTPS deficiency. Confirmation of diagnosis through determination of DHPR activity, urine pterins and/or molecular analysis is necessary for appropriate management. However, despite early initiation of treatment, neurodevelopmental findings of patients with 6-PTPS deficiency were still unsatisfactory.
RESUMO
@#<p style="text-align: justify;">Serratia marcescens is a recognized nosocomial opportunistic pathogen but rarely caused central nervous system infection especially in the neonates. Outbreaks have been documented in the neonatal intensive care units (NICU) and a higher incidence among those with surgical procedures. This review aims to describe a neonate with nonleaking lumbosacral myelomeningocele presenting with multiple pyogenic brain abscesses caused by S. marcescens admitted in a NICU. This review also presents a concise literature review discussing the potential risk factor involved, diagnostic measures and therapeutic possibilities. We present a neonate with Chiari II malformation admitted in the NICU developing S. marcescens ventriculitis after a lumbosacral myelomeningocele repair. With an empiric treatment of meropenem for one week, repeat ventricular cerebrospinal fluid analysis worsened and developed cerebral abscess as detected using cranial ultrasound. Ciprofloxacin was added and completed for six weeks with improved neurologic status. On a 6-month follow-up, sensorineural hearing loss, focal epilepsy and developmental delay were documented. A systematic review showed that prematurity and NICU outbreaks were among the most common risk factors for the central nervous system involvement of S. marcescens. Meropenem remains to be the antibiotic of choice adjunct with timely neurosurgical intervention. Brain abscess showed the worst prognosis among the neurologic sequelae.</p>