Abstract
We present the nutritional and pharmacological management of a 2-year-old girl with a severe form of propionic acidaemia and a genitourinary embryonal rhabdomyosarcoma. This association has not been described before, nor the utilization of chemotherapy in patients with propionic acidaemia.
The patient is a girl with neonatal onset of propionic acidaemia, homozygous for the c.2041-2924del3889 mutation in PCCA gene. At 23 months of age she was diagnosed with genitourinary embryonal rhabdomyosarcoma. Conservative surgery, brachytherapy and nine cycles of chemotherapy with iphosphamide, vincristine and actinomycin were recommended by oncologists. Due to the possibility that the child could present decompensations, we elaborated three different courses of treatment: when the patient was stable (treatment 1), intermittent bolus feeding through gastrostomy, containing 70 kcal/kg/day and 1.4 g/kg/day of total protein (0.6 g/kg/day of natural protein and 0.8 g/kg/day of amino acid-based formula) was prescribed; on the chemotherapy-days (treatment 2), diet consisted on continuous feeding, with the same energy and amino acid-based formula but half of natural protein intake; in case of decompensation (treatment 3), we increased by 10% the energy intake, and completely stopped natural protein in the diet but maintaining the amino acid-based formula. On chemotherapy- days carnitine was increased from 100 mg/kg/day to 150 mg/kg/day, and N-carbamylglutamate was added.
Through the 7 months with chemotherapy the patient did not suffer decompensations, while she maintained good nutritional status.
Enteral continuous feeding by gastrostomy, amino acid-based formula, and preventive use of N-carbamylglutamate during chemotherapy-days are the principal measures we propose in these situations.
Competing interests: None declared
Sentence Summary
This article describes, for the first time, the management of a patient with propionic acidaemia through 7 months with chemotherapy. Enteral continuous feeding, amino acid-based formula, and preventive use of N-carbamylglutamate during the days of chemotherapy are the principal measures we propose in these situations.
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Abbreviations
- CEF:
-
Continuous enteral feeding
- EPSSG:
-
European Pediatric Soft Tissue Sarcoma Study Group
- IVA:
-
Iphosphamide, vincristine, actinomycin
- NCG:
-
N-carbamylglutamate
- OLCFA:
-
Odd-numbered long-chain fatty acids
- PA:
-
Propionic acidaemia
- PCC:
-
Propionyl CoA carboxylase
- RMS:
-
Rhabdomyosarcoma
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Acknowledgements
We would like to thank the patient’s family for their confidence and continuous collaboration in the treatment of the girl.
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Communicated by: Daniela Karall
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Details of the Contribution of Individual Authors
Martín-Hernández E, Quijada Fraile P and García-Silva MT are the specialists in metabolic diseases in charge of the patient. They participated in the conception and design of the study.
Oliveros Leal L, is the dietician in charge of nutritional management of the patient. She participated in the conception and design of the study.
Baro M, Pérez-Alonso V and Vivanco JL are the oncologists in charge of the patient. They participated in the conception and design of the article.
Pérez-Cerdá C, specialist in biochemistry, has provided scientific data for the present manuscript.
Martín-Hernández E has written the article
All of them have critically read the contents of the manuscript
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Martín-Hernández Elena
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All authors declare that the answer to all questions on the JIMD competing interest are “No”, and therefore they have nothing to declare
Ethics approval was not required
Consent for publication was obtained from the parents of the patient
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Martín-Hernández, E. et al. (2012). Nutritional and Pharmacological Management during Chemotherapy in a Patient with Propionic Acidaemia and Rhabdomyosarcoma Botryoides. In: JIMD Reports - Case and Research Reports, 2012/3. JIMD Reports, vol 6. Springer, Berlin, Heidelberg. https://doi.org/10.1007/8904_2012_137
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DOI: https://doi.org/10.1007/8904_2012_137
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