Neonatal macrocephaly: cerebral PNET (Primitive Neuro Ectodermal Tumor) or neuroblastoma as an infrequent cause: a case report and a review of the literature
Notice bibliographique
Résumé
Case presentation: We report a male term newborn with a congenital macrocephaly, 3.5 standard deviation above median noted at birth. The antenatal history, including ultrasonography was reported to be normal. The head circumference was measured between 10th and 50th percentile at 21 weeks 3/ 7 and 30 weeks 5/ 7, respectively. Postnatal adaptation was complicated by poor respiratory effort and the baby had to be intubated at 8 minutes of age. On clinical examination at admission to our unit we noted: A wide and tense anterior fontanel, splayed sutures without external bruising or swelling, a normal inspection of the spine and a provocable gag reflex, bilaterally 3mm wide and isoreactive pupils and general hypotonia with all extremities spontaneously and symmetrically moved were described. Initial imaging investigation was performed with a head ultrasound. There was a large intra- parenchymal mass in the right cerebral hemisphere with a compressed right lateral ventricle and a massively dilated right lateral temporal horn, as well as an enlarged and laterally displaced right frontal horn. All ventricles showed signs of ventriculitis. These findings were investigated further with a CT scan and a MRI. The initial differential diagnosis included teratoma and neuroblastoma with a communicating hydrocephaly. A decompression had to be performed and the histology showed the findings of a Primitive Neuro Ectodermal Tumor (PNET) or neuroblastoma. The cytogenetic analysis showed a previously reported abnormal clone with structural rearrangement involving chromosomes 1 and 15 and tetraploidy with unstable number of chromosomes (ISCN Nomenclature: 92, XXYY,? t (1;15) (p36; q24)/ 46, XY/ 92, XXYY), a mutation previously described. Discussion and review of the literature: The reported incidence of neonatal brain tumors is between 1.4 and 3.6 per 100,000 live births. The most commonly reported findings in a review of 250 cases of previously published congenital brain tumors were macrocephaly (28.7%), hydrocephalus (17.3%), detection by imaging pre- or postnatally (12.2%) and stillbirth (10.4%). Classically reported signs of intracranial hypertension reported in older children are very rarely present. In a previous review of 230 cases, 23 patients had an associated dysmorphic feature of various and nonspecific type. Conclusion: Congenital macrocephaly should be investigated carefully. The most frequent pathologies found, include hydrocephaly and intra- or extracranial hemorrhage. An initial head ultrasound seems to be adequate as a screening method. Should there remain some uncertainty after a CT scan, better imaging results are obtained with a MRI and when a tumour is found, the definite diagnosis will be secured by histopathology.
Récupéré en direct depuis OpenAlex et désinversé. Les résumés ne sont pas conservés dans cette base de données : les index inversés représentent 8,6 Go des 9,3 Go de texte de la base, et le serveur dispose de 13 Go libres.
Comment cette classification a été obtenuedéplier
Prédiction machine sur la base complète
Imitation des enseignantsNi prévalence calibrée, ni vérité terrain. Validation humaine à venir. Le volet Gemma est une étiquette directe du modèle pour chaque travail de la base, lue sur la notice réduite au titre. Le volet Codex est un classifieur appris des 10 348 étiquettes directes de Codex et calibré sur les taux pondérés de l'échantillon; les champs sans appui suffisant ne portent aucun appel Codex. Le mode candidate est l'union des deux volets; le consensus est leur intersection. Ces sorties portent le statut machine_predicted_unvalidated et ne sont pas des étiquettes humaines.
Scores du classifieur distillé par catégorie (deux têtes)
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,000 | 0,001 |
| Méta-épidémiologie (sens strict) | 0,001 | 0,000 |
| Méta-épidémiologie (sens large) | 0,001 | 0,000 |
| Bibliométrie | 0,002 | 0,003 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,001 | 0,001 |
| Science ouverte | 0,001 | 0,000 |
| Intégrité de la recherche | 0,001 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,002 | 0,001 |
Scores machine (provisoires)
Les deux têtes enseignantes du modèle étudiant, lues sur ce travail. Un score ordonne la base pour la relecture; il n'affirme jamais une catégorie, et le statut de validation accompagne chaque rangée tel quel.
Scores de référence d'un modèle non mature (critères de maturité non atteints, 7 itérations). Un score ordonne; il n'affirme jamais une catégorie.
score_only:v0-immature-baseline · tel quel depuis la passe de notation : score_only signifie que le nombre peut ordonner les travaux, et qu'aucune étiquette de catégorie n'en découleClassification
machine, non validéePrédiction automatique; un appel candidat d’une seule source (Gemma direct ou Codex distillé), pas un consensus.
Le détail, modèle par modèle et score par score, se trouve en fin de page sous « Comment cette classification a été obtenue ».