Candida albicans meningitis in an infant with noonan syndrome

Abstract

Noonan syndrome is a rare disorder, characterized by several malformations such as dysplasia and stenosis of the pulmonary valve, atrial septal defect and a typical pattern of hypertrophic cardiomyopathy. We describe here a 1-month old girl, who was referred to our center with seizure and apnea. She had wide anterior fontanel, head circumference and sunset eye. Intaventricular hemorrhage by sonography and atrial septal defect and hypertrophy cardiomyopathy by echocardiography were detected. Clinical and laboratory findings of the patient were compatible with a diagnosis of Noonan syndrome, which was also confirmed by molecular analysis. Candida albicans was grown in the blood and cerebrospinal fluid cultures. Treatment with Amphotrycine B was started for the patient and she responded well to this therapy. Early diagnosis and appropriate diagnosis of a rare condition in the patient with such rare disease are the main keys to avoid further complications and even death of patient.

Antifungal agents and therapy for infants and children with invasive fungal infections: a pharmacological perspective

“…There are several considerations relevant for the use of amphotericin B in this patient population: (i) all amphotericin B formulations penetrate the CNS (but not the CSF), which is important for the treatment of haematogenous Candida meningoencephalitis (HCME) . A preclinical model of HCME suggests that all formulations have fungicidal activity in the CNS , which is also supported by at least some clinical data , (ii) amphotericin B does not achieve effective urinary concentrations, and may, therefore be ineffective for treatment of candiduria and renal fungal balls and (iii) the pharmacokinetics of amphotericin B deoxycholate are exceedingly variable in neonates, and this may lead to unexpected treatment failure or toxicity .…”