Objective: To report a rate case of Juvenile xanthogranuloma in a newborn infant. Case description: We present the case of a 31-week preterm newborn with multiple skin lesions whose clinical, histological and immunohistochemical findings allowed the diagnosis of juvenile xanthogranuloma. Currently, the patient has nine months-old, and there is no aggravation of the skin lesions or evidence of extra-cutaneous involvement, particularly ophthalmic. Comments: Juvenile xanthogranuloma is a rare and benign condition, included in the vast group of non-Langerhans histiocytosis. It typically occurs in the pediatric age and may have a neonatal presentation. It affects predominantly the skin, in the form of papules or yellow and/or erythematous nodules and could be asymptomatic, multiple or solitary. Extra-cutaneous involvement, is more common in toddlers and when multiple lesions are present. The eye is the most affected site. We highlight this clinical case by its presentation in the neonatal period and in the form of multiple lesions, which bestows an increased risk of extra-cutaneous involvement, although this has not yet been verified.
Congenital central hypoventilation syndrome (CCHS) is an uncommon genetic disease characterised by an autonomic nervous system dysfunction that affects ventilatory homeostasis. Involvement of other systems is also described, mainly cardiovascular, gastrointestinal and central nervous systems. We describe a rare case of CCHS diagnosed in a term newborn who presented with persistent apnoea in the first hours of life. After an exhaustive aetiological study excluding primary pulmonary, cardiac, metabolic and neurological diseases, this diagnosis was confirmed by a paired-like homeobox 2B gene sequence analysis. During hospitalisation, ventilation was optimised and multidisciplinary follow-up was initiated, including genetic counselling. At 2 months old, the child was discharged under non-invasive ventilation during sleep. This case illustrates the importance of early diagnosis, including genetic study and advances in home ventilation. These factors allow early hospital discharge and timely multidisciplinary intervention, which is crucial for patients’ quality of life and outcome optimisation.
SummaryBloody nipple discharge (BND) in infancy is an exceptionally rare finding. We report the cases of two children who are 9 and 29 months old. The first case presented with 1 month of bilateral intermittent blood-stained nipple discharge with no other symptoms. The second case presented with 15 days of intermittent right BND and a small palpable mass, without obvious signs of inflammation. The coagulation and hormonal tests were within the age-appropriate reference ranges. Ultrasound examination was normal. Cytological evaluation of nipple discharge showed no malignant cells. Both patients had spontaneous symptoms resolution. BND in paediatric age is usually benign and self-limited and often related to mammary duct ectasia. Unnecessary invasive procedures or treatments should be avoided.
BACKGROUND
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