Purpura fulminans néonatal sans sepsis par déficit congénital sévère en protéine C

Diffuse Intracerebral Hemorrhage in an Infant With a Novel Homozygous Variant Leading to Severe Protein C Deficiency

“…4 Other case reports have described infants with this disorder presenting with antenatal hydrocephalus secondary to either cerebral hemorrhage or thrombosis. [8][9][10][11] This condition was also reported in 2 twin sisters with cerebral palsy who suffered periventricular hemorrhages secondary to perinatal cerebral medullary thrombosis. 12 While cerebral thrombosis is a well described manifestation of congenital protein C deficiency, intracranial hemorrhage in the absence of cerebral thrombosis is a less recognized complication and may not alert a provider to suspect a prothrombotic condition which can result in a delay in the diagnosis.…”

“…A retrospective study on 27 infants with severe protein C deficiency found that intracranial thrombosis or hemorrhage occurred in 70% of infants and this preceded the presentation of purpura fulminans in all infants who had both clinical findings 4. Other case reports have described infants with this disorder presenting with antenatal hydrocephalus secondary to either cerebral hemorrhage or thrombosis 8–11. This condition was also reported in 2 twin sisters with cerebral palsy who suffered periventricular hemorrhages secondary to perinatal cerebral medullary thrombosis 12…”

Prise en charge des lésions des parties molles du purpura fulminans chez l’enfant

“…Dans les cas extrêmes, les thromboses peuvent être étendues à l'ensemble des membres. Enfin, le déficit acquis en protéine C aggrave le risque d'ischémie distale [3,13,14].…”

“…La bactérie la plus souvent responsable est le méningocoque (sérogroupe B prédominant), bien que d'autres agents pathogènes puissent être mis en cause comme le pneumocoque. Le PF peut aussi être observé 7 à 10 jours après une varicelle [2] ou être favorisé par un déficit congénital en protéine C [3]. Les jeunes enfants de 0 à 4 ans sont les plus touchés avec un pic d'incidence maximum pour les enfants de moins de 1 an, mais aucune tranche d'âge n'est épargnée.…”

Fatores trombofílicos em mulheres inférteis

“…Os indivíduos heterozigotos apresentam um risco dez vezes maior para trombose (27). Os indivíduos com deficiência grave de PC podem apresentar púrpura neonatal fulminante, caracterizada por microtrombose generalizada, sangramento e necrose tecidual (28).…”