RESUMEN
A male neonate was born at 34 weeks due to spontaneous labor with associated fetal distress and meconium-stained amniotic fluid. The neonate presented with septic shock and congenital pneumonia shortly after birth and later neurological symptoms. Listeria monocytogenes was identified in blood samples, but with negative urine and cerebrospinal fluid cultures. The neonate required assisted ventilation for a period of 10 days and received high-dose and long-term antibiotic therapy. Despite the fact that the mother denied an infectious risk for listeriosis infection, she developed mild respiratory symptoms. Her microbiological investigation was negative, although it did not include placental samples. Vertical transmission in this case was presumed but not confirmed. The newborn was discharged asymptomatic at day 26 of life and has presented normal developmental evolution until present, at eight months old. Listeria monocytogenes is a classic but relatively rare cause of neonatal sepsis and meningitis. This case describes a clinically successfully managed case with no possible epidemiological link and illustrates the challenges in managing cases of a public health disease. In neonatal listeriosis, communication between Neonatology and Obstetrics departments, as well as with public health, is vital, and long-term follow-up is crucial to identify possible neurological sequelae.
RESUMEN
Deficiency of adenosine deaminase 2 (DADA2), first reported in 2014, is a disease with great phenotypic variability, which has been increasingly reported. Therapeutic response depends on the phenotype. We present a case of an adolescent with recurrent fever, oral aphthous ulcers, and lymphadenopathy from 8 to 12 years of age and subsequently presented with symptomatic neutropenia. After the diagnosis of DADA2, therapy with infliximab was started, but after the second dose, she developed leukocytoclastic vasculitis and showed symptoms of myopericarditis. Infliximab was switched to etanercept, with no relapses. Despite the safety of tumor necrosis factor alpha inhibitors (TNFi), paradoxical adverse effects have been increasingly reported. The differential diagnosis between disease new-onset manifestations of DADA2 and side effects of TNFi can be challenging and warrants further clarification.
RESUMEN
The normal development of puberty depends on the specific pulsatility of gonadorelin, which is finely regulated by genetic and environmental factors. In the published literature, eating disorders figure as a cause of pubertal delay/arrest in females but are rarely considered in males with disordered puberty. A 16.7-year-old male was referred to the Department of Pediatrics with arrested puberty due to severe malnutrition in the context of food restriction. Past medical history was relevant for asthma. Generalized cachexia, facial lanugo hair, cutaneous xerosis, and Russell's sign were noted; he had a height of 155.5 cm (-2.5 SD; target height: 168 cm, -1.1 SD) and a BMI of 12.4 kg/m2 (-6.8 SD); left and right testicular volumes were 8 mL and 10 mL, respectively. He had a twin brother who had normal auxological/pubertal development (height: 167 cm, -1.05 SD; testicular volumes: 20 mL). Anorexia nervosa was diagnosed, and he was enrolled in a personalized treatment and surveillance program. "Nonthyroid illness" resembling secondary hypothyroidism was noted, as was low bone mineral density. Clinical and biochemical follow-up showed significant improvements in BMI (16.2 kg/m2, -2.55 SD), completion of puberty (testicular volumes: 25 mL), and reversion of main neuroendocrine abnormalities. Herein, we present an adolescent male with arrested puberty in the context of anorexia nervosa. The recognition of this rare condition in males allows a personalized approach to disordered puberty, with resumption of normal function of the hypothalamic-pituitary-gonadal axis and achievement of pubertal milestones.