Acute hemodialysis therapy in neonates with inborn errors of metabolism.

Background: Inborn errors of metabolism (IEM), including organic acidemias and urea cycle defects, are characterized by systemic accumulation of toxic metabolites with deleterious effect on the developing brain. While hemodialysis (HD) is most efficient in clearing IEM-induced metabolic toxins, data regarding its use during the neonatal period is scarce.

Methods: We retrospectively summarize our experience with HD in 20 neonates with IEM-induced metabolic intoxication (seven with maple syrup urine disease, 13 with primary hyperammonia), over a 16-year period, between 2004 and 2020.

A case of H syndrome showing immunophenotye similarities to Rosai-Dorfman disease.

H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated, hyperpigmented, and hypertrichotic skin and systemic manifestations including hepatosplenomegaly, cardiac anomalies, hearing loss, hypogonadism, low height, hypertriglyceridemia, hallux valgus, and flexion contractures. H syndrome results from mutations in the SLC29A3 gene, which encodes the human equilibrative nucleoside transporter hENT3. The cutaneous histopathology is characterized by a striking mononuclear cell infiltrate in the dermis consisting of CD68+ monocyte-derived cells and CD34+ and factor XIIIa+ dendrocytes.

Anaerobic meningitis after missed penetrating trauma in a 6-year old child.

Anaerobic meningitis may occur alone, but is usually encountered as a complication of a brain abscess. In either case it is rare in a normal host. We present a 6-year old boy with anaerobic meningitis after missed penetrating trauma, stressing the need for a thorough investigation after head trauma.