CASE SERIES: DON’T BLINK - 2 SYMPTOMATICALLY SIMILAR CASES OF PANCYCYTOPENIA ON THE SAME DAY – WITH VASTLY DIFERENT AETIOLOGIES
Notice bibliographique
Résumé
Background: We highlight a case series of two symptomatically similar patients representing vastly different aetiologies of pancytopenia. Pancytopaenia can be categorized by its pathological cause – as a result of: decreased production (e.g. autoimmune disorders, HLH, nutritional deficiency, aplastic anaemia, drugs, chemotoxic agents1,2, as well as juvenile pernicious anaemia3 and also viral infections4,5), increased destruction (DIC, infections, Rheumatoid Arthritis1,2) or bone marrow infiltration (leukaemia1,2). It can also be categorized grossly by malignant versus non-malignant causes. Prevalence of causes and appropriate investigations are paramount to a timely, accurate diagnosis. Case Presentation: This case report was completed through retrospective chart analysis. Results: Case 1: A previously well-term baby boy of 5 months, presenting with lethargy and poor feeding. Baby boy (BB) on initial blood work had a megaloblastic anaemia, pancytopenia and accompanying motor and social developmental delay. He also had a poor swallow, aspirating on liquids. Investigations showed that BB was severely B12 deficient due to maternal deficiency, as he was solely breastfed, with no alternate diagnosis found. MRI brain showed no demyelination. BB was treated with B12 injections to become replete, and while he has improved developmentally, he still does not have a safe swallow. Case 2: A previously well-term baby girl of 2 months, presenting with lethargy and poor feeding. On basic bloods, like baby boy, Baby Girl(BG), had a pancytopenia, however she also had a microcytic anaemia with a significant transaminitis. Unfortunately, she quickly deteriorated, with her bloods concerning for HLH (later confirmed on bone marrow biopsy and genetic testing showing perforin deficiency), also requiring ventilator support for ARDS from HMPV infection. She was quickly initiated on methylprednisolone IVIG and cyclosporine to manage her condition. BG is improved and awaiting a haematopoietic stem cell transplant. Discussion: From the current literature, there are few case reports and no comprehensive analysis of the prevalence of specific aetiologies in Western, English speaking countries3,6-8, Table 1. In contrast, in countries such as India and Pakistan, many retrospective studies are published (highest prevalence: nutritional deficiency, leukaemia, aplastic anaemia), where ethnicity and nutrional status play a role in aetiology9-13. We highlight our cases in Ireland to contribute to the data of aetiological prevalence in the Western English speaking countries. Our case of B12 deficiency induced pancytopaenia – secondary to dietary deficiency, is more commonly described as being secondary to malnutrition in impoverished regions10,12. However, here it has occurred as result of dietary preference. We note other similar cases where dietary restriction also led to pancytopaenia and B12 deficiency3,7. Learning Points: As pancytopenia can have vastly different causes, a wide differential1,2, 14, should be considered to correctly diagnose patients. While some articles1,14, book chapters2, and case reports attempt to outline a framework, no guidelines exist with an investigative algorithm published in the USA, UK, Canadian, Australian, European or International Haematology journals/societies. This represents a gap in the literature and such a guideline with an investigative algorithm, formulated in conjunction with haematology colleagues, would greatly benefit the paediatric patient population.
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 | 0,001 | 0,004 |
| Méta-épidémiologie (sens strict) | 0,002 | 0,001 |
| Méta-épidémiologie (sens large) | 0,001 | 0,001 |
| Bibliométrie | 0,003 | 0,003 |
| Études des sciences et des technologies | 0,003 | 0,002 |
| Communication savante | 0,003 | 0,003 |
| Science ouverte | 0,001 | 0,002 |
| Intégrité de la recherche | 0,004 | 0,003 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,005 | 0,002 |
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 ».