3-Methylcrotonyl-CoA carboxylase deficiency. A long-term outcome
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Notice bibliographique
Résumé
We are describing the long-term follow up of a 6 and half-year old patient from Saudi Arabia with Biotin-Resistant 3-Methylcrotonyl-coenzyme-A carboxylase (MCC) deficiency. She presented with acidosis, lower respiratory tract infection, vomiting, diarrhea and failure to thrive at 3 months of age. The diagnosis initially reached by tandem metabolic stroke (MS) and then confirmed by enzyme analysis. She was placed on appropriate therapy. During the next 6 years, she had no recurrence of the disease except she had a thrombocytopenic episode at 18 months. This case illustrates that isolated MCC deficiency of early onset shows a severe clinical course. However, the clinical symptoms and signs can be reversed with suitable therapy. The patient at present is a 6 and half-year-old girl who came to the service at the age of 2.5 months from a peripheral hospital. She was the product of full term spontaneous vaginal delivery and was discharged home at 2 days. She came back to the hospital with a chest infection at 8 days of age. The mother attributed tachypnea at 35 days of age, which was attributed to bronchiolitis. She was found to have gastro-esophageal reflux, diarrhea and acidosis. At that time, a blood sample sent for tandem MS revealed the MCC deficiency. Parents are first-degree cousins. The mother had 2 miscarriages and 3 normal children (one boy, and 2 girls). Physical examination at the time of first encounter at 2 months of age was unremarkable. There were no organomegaly and no neurological findings. She had a nappy rash with satellite lesions. She was placed on maple syrup urine disease formula with additional isoleucine and valine. She was prescribed Polycose, Polycitra 1 ml/kg / tid, Carnitine 200 mg/kg/day and Glycine 500 mg/kg/day. Nystatin ointment was given for the nappy rash. When seen again at 3 months, the mother gave a history of loose motions. She was otherwise, unremarkable. She was normal at 4, 6, 8, 12 and 14 months of age. At 17 months: following a severe respiratory tract infection, she developed a repeat episode of mild acidosis and was found to have thrombocytopenia, 13.000/ml. A bone marrow examination showed increased megakaryopoiesis, but normal erythropoiesis and normal granulocyte
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Scores Codex et Gemma par catégorie
| Catégorie | Codex | Gemma |
|---|---|---|
| Métarecherche | 0,001 | 0,000 |
| Méta-épidémiologie (sens strict) | 0,000 | 0,000 |
| Méta-épidémiologie (sens large) | 0,000 | 0,000 |
| Bibliométrie | 0,000 | 0,000 |
| Études des sciences et des technologies | 0,000 | 0,000 |
| Communication savante | 0,000 | 0,000 |
| Science ouverte | 0,000 | 0,000 |
| Intégrité de la recherche | 0,000 | 0,000 |
| Charge utile insuffisante (le modèle a refusé de juger) | 0,001 | 0,000 |
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 découle