Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmityl transferase deficiency
Abstract
Severe rhabdomyolysis following an influenza B infection developed in a previously well 13-year-old girl. There was no history of trauma. Her course was complicated by episodes of severe hyperkalemia, hypocalcemia, hyperphosphatemia, and myoglobinuria. Renal failure, hypertension, and life-threatening arrhythmias developed; she died. Muscle biopsy revealed that this girl had carnitine palmityl transferase deficiency. An asymptomatic sister was demonstrated to have the same disorder. Although carnitine palmityl transferase deficiency is usually associated with mild bouts of rhabdomyolysis that become apparent only in adulthood, severe forms of this disorder may be seen in children. Life-threatening rhabdomyolysis and myoglobinuria may follow any infection associated with decreased intake. If carnitine palmityl transferase deficiency is diagnosed in a proband, other siblings should be evaluated so that proper preventative measures can be undertaken to help prevent the development of symptoms in susceptible individuals who have not been recognized to have the disease.
Integrity signals
Registry
Cites
Statistics
Claims the paper makes
Claims other papers make about this one
Each is checked against this paper’s own text: does it say what the citing paper says it does?
Histological descriptions of influenza B-associated skeletal myopathy are remarkably similar to the cardiac pathology identified in several of the case patients in our series.
“Histological descriptions of influenza B-associated skeletal myopathy are remarkably similar to the cardiac pathology identified in several of the case patients in our series”
From Myocardial Injury and Bacterial Pneumonia Contribute to the Pathogenesis of Fatal Influenza B Virus Infection (2012) · cites this paper as [44]
Histological descriptions of influenza B-associated skeletal myopathy include randomly distributed foci of segmental hyaline degeneration and necrosis of individual fibers, often in the absence of any inflammatory infiltrates.
“include randomly distributed foci of segmental hyaline degeneration and necrosis of individual fibers, often in the absence of any inflammatory infiltrates [43,44]”
From Myocardial Injury and Bacterial Pneumonia Contribute to the Pathogenesis of Fatal Influenza B Virus Infection (2012) · cites this paper as [44]
Cited by
Sorted by citations
Carnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
BONNEFONT, J. (2004) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2004.06.004 · Cited by 637 · see citing works
“The phenotypic expression may be highly variable within a family, with a clinical picture ranging from asymptomatic to lethal (Kelly et al., 1989; Schroder et al., 1990; Handig et al., 1996; Vladutiu et al., 2002a,b).”
BackgroundWarren, J. D., Blumbergs, P. C., & Thompson, P. D. (2002) · Muscle & Nerve · doi:10.1002/mus.10053 · Cited by 428 · see citing works
“physical stresses such as exercise, fasting, or infection, even in adult life.(16,18,39,70,77,87,104,105,114,115,125,139,140,151)”
Carnitine Palmitoyltransferase Deficiencies
Bonnefont, J., Demaugre, F., Prip‐Buus, C., Saudubray, J., Brivet, M., Abadi, N., & Thuillier, L. (1999) · Molecular Genetics and Metabolism · doi:10.1006/mgme.1999.2938 · Cited by 229 · see citing works
Influenza-Associated Myositis in Children
Agyeman, P., Duppenthaler, A., Heininger, U., & Aebi, C. (2004) · Infection · doi:10.1007/s15010-004-4003-2 · Cited by 211 · see citing works
“One patient [23] with familial carnitine palmitoyl-transferase deficiency died.”
BackgroundDemaugre, F., Bonnefont, J., Colonna, M., Cepanec, C., Leroux, J. P., & Saudubray, J. (1991) · Journal of Clinical Investigation · doi:10.1172/jci115090 · Cited by 198 · see citing works
“This hypothesis is supported by the description ofCPTII deficiency in siblings, one asymptomatic and the other with the "classical" form of the disease (37).”
MethodPaddock, C. D., Liu, L., Denison, A. M., Bartlett, J. H., Holman, R. C., DeLeon-Carnes, M., Emery, S. L., Drew, C. P., Shieh, W.-J., Uyeki, T. M., et al. (2012) · The Journal of Infectious Diseases · doi:10.1093/infdis/jir861 · Cited by 171 · see citing works
“Histological descriptions of influenza B–associated skeletal myopathy are remarkably similar to the cardiac pathology identified in several of the case patients in our series and include randomly distributed foci of segmental hyaline degeneration and necrosis of individual fibers, often in the absence of any inflammat…”
BackgroundCarnitine Palmitoyltransferase II Deficiency: A Clinical, Biochemical, and Molecular Review
Sigauke, E., Rakheja, D., Kitson, K., & Bennett, M. J. (2003) · Laboratory Investigation · doi:10.1097/01.lab.0000098428.51765.83 · Cited by 111 · see citing works
“The prognosis is generally favorable, although fatalities have been reported (Kelly et al, 1989).”
BackgroundInfluentialPanagopoulos, I., Lassen, C., Kristoffersson, U., & �man, P. (1999) · Human Mutation · doi:10.1002/(sici)1098-1004(1999)13:3 · Cited by 13 · see citing works
Disorders of Plasma Phosphate and Indications for its Measurement
Crook, M. A., & Swaminathan, R. (1996) · Annals of Clinical Biochemistry International Journal of Laboratory Medicine · doi:10.1177/000456329603300502 · Cited by 54 · see citing works
Antenatal presentation of carnitine palmitoyltransferase II deficiency
Elpeleg, O. N., Hammerman, C., Saada, A., Shaag, A., Golzand, E., Hochner‐Celnikier, D., Berger, I., & Nadjari, M. (2001) · American Journal of Medical Genetics · doi:10.1002/ajmg.1457 · Cited by 55 · see citing works
Fanin, M., Anichini, A., Cassandrini, D., et al. (2011) · Clinical Genetics · doi:10.1111/j.1399-0004.2011.01786.x · Cited by 49 · see citing works
“The existence of symptomatic heterozygous patients, the various degrees of clinical severity, and the large intra-familiar heterogeneity of the phenotype (ranging from asymptomatic to fatal (2, 18, 19, 24)) could be explained by additional factors other then the genotype.”
BackgroundYasuno, T., Osafune, K., Sakurai, H., et al. (2014) · Biochemical and Biophysical Research Communications · doi:10.1016/j.bbrc.2014.04.084 · Cited by 49 · see citing works
Acute Rhabdomyolysis Associated with Ofloxacin/Levofloxacin Therapy
Hsiao, S., Chang, C., Tsao, C., Lee, Y.-Y. J., Hsu, M.-Y., & Wu, T.-J. (2004) · Annals of Pharmacotherapy · doi:10.1345/aph.1e285 · Cited by 47 · see citing works
Carnitine palmitoyl transferase deficiency in malignant hyperthermia
Vladutiu, G. D., Hogan, K. J., Saponara, I., et al. (1993) · Muscle & Nerve · doi:10.1002/mus.880160509 · Cited by 41 · see citing works
Bastin, J. (2013) · Biochimie · doi:10.1016/j.biochi.2013.05.012 · Cited by 35 · see citing works
Magee, H., & Goldman, R. D. (2017) · PubMed · Cited by 31 · see citing works
Influenza-associated myositis: a single-centre, 5-year retrospective study
Kerr, J., Macartney, K. K., & Britton, P. N. (2020) · European Journal of Pediatrics · doi:10.1007/s00431-020-03835-w · Cited by 32 · see citing works
“Occasional severe cases of influenza-associated rhabdomyolysis have shown underlying metabolic disorders of skeletal muscles to be a further possible mechanism of disease [21].”
BackgroundHandig, I., Dams, E., Taroni, F., et al. (1996) · Human Genetics · doi:10.1007/bf02185756 · Cited by 31 · see citing works
“Variability in expression of an identical CPT II defect in siblings has been described before (Kelly et al. 1989).”
BackgroundRhabdomyolysis and acute renal failure in a child with influenza A infection
Dell, K. M., & Schulman, S. L. (1997) · Pediatric Nephrology · doi:10.1007/s004670050299 · Cited by 30 · see citing works
“This disorder may present as a spectrum from mild, clinically insignificant disease in adults, to severe, occasionally fatal rhabdomyolysis in children [7].”
BackgroundMutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency
Yasuno, T., Kaneoka, H., Tokuyasu, T., et al. (2008) · Clinical Genetics · doi:10.1111/j.1399-0004.2008.00986.x · Cited by 26 · see citing works
Gerberding, J. L., Morgan, J. G., Shepard, J.-A. O., & Kradin, R. L. (2004) · New England Journal of Medicine · doi:10.1056/nejmcpc049006 · Cited by 25 · see citing works
Kaneoka, H., Uesugi, N., Moriguchi, A., Hirose, S., Takayanagi, M., Yamaguchi, S., Shigematsu, Y., Yasuno, T., Sasatomi, Y., & Saito, T. (2005) · American Journal of Kidney Diseases · doi:10.1053/j.ajkd.2004.12.006 · Cited by 25 · see citing works
Influenza B‐associated rhabdomyolysis in Taiwanese children
Wu, C., Hsia, S., & Huang, J. (2009) · Acta Paediatrica · doi:10.1111/j.1651-2227.2009.01595.x · Cited by 23 · see citing works
Moundras, J. M., Wattrisse, G., Leroy, B., et al. (2000) · Annales Françaises d Anesthésie et de Réanimation · doi:10.1016/s0750-7658(00)00267-7 · Cited by 18 · see citing works
Rhabdomyolyse und Myoglobinurie
Lindner, A., & Zierz, S. (2003) · Der Nervenarzt · doi:10.1007/s00115-003-1518-1 · Cited by 17 · see citing works
Recurrent reversible rhabdomyolysis associated with hyperthermia and status epilepticus
Sato, T., OTA, M., Matsuo, M., et al. (1995) · Acta Paediatrica · doi:10.1111/j.1651-2227.1995.tb13832.x · Cited by 16 · see citing works
Immunoquantitation of carnitine palmitoyl transferase in skeletal muscle of 31 patients
Vladutiu, G. D., Saponara, I., Conroy, J. M., et al. (1992) · Neuromuscular Disorders · doi:10.1016/0960-8966(92)90057-d · Cited by 15 · see citing works
Ng, Y., & Johnston, H. (2000) · Journal of Paediatrics and Child Health · doi:10.1046/j.1440-1754.2000.00499.x · Cited by 14 · see citing works
Novel Mutation in the CPT II Gene in a Child With Periodic Febrile Myalgia and Myoglobinuria
Bruno, C., Bado, M., Minetti, C., et al. (2000) · Journal of Child Neurology · doi:10.1177/088307380001500607 · Cited by 14 · see citing works
Benign acute childhood myositis in Kuwait
Hassoon, M. M., Qandalji, B. R., Eeg‐Olofsson, O., et al. (1992) · Annals of Tropical Paediatrics · doi:10.1080/02724936.1992.11747590 · Cited by 10 · see citing works
Treatment and Management of Hereditary Metabolic Myopathies
Vorgerd, M., & Deschauer, M. (2010) · Elsevier eBooks · doi:10.1016/b978-1-4377-0372-6.00022-0 · Cited by 10 · see citing works
In vitroStudy of Muscle Aerobic Metabolism in Chronic Fatigue Syndrome
Behan, W. M. H., Holt, I. J., Kay, D. H., et al. (1999) · Journal of Chronic Fatigue Syndrome · doi:10.1300/j092v05n01_02 · Cited by 8 · see citing works
Glezen, W. P. (2009) · Elsevier eBooks · doi:10.1016/b978-1-4160-4044-6.50195-3 · Cited by 6 · see citing works
An unusual cause of acute rhabdomyolysis
Gomes, M., Müller, K., Busch, H.-J., Uhl, M., Kelly, T., Huzly, D., Peter, H. H., & Walker, U. A. (2006) · Rheumatology · doi:10.1093/rheumatology/kel093 · Cited by 6 · see citing works
Carnitine Palmitoyl Transferase Deficiency – Unrecognized Cause of Recurrent Acute Kidney Injury
Alečković-Halilović, M., Mešić, E., Sinanović, O., et al. (2013) · Renal Failure · doi:10.3109/0886022x.2013.780979 · Cited by 5 · see citing works
“Even when we talk about the relatively benign myopathic form of CPT II deficiency, if not recognized and treated, besides poor quality of life and work efficiency, there are potentially serious complications such as AKI, which can be sometimes very confusing on first presentation in apparently healthy individuals afte…”
BackgroundAcute renal failure due to carnitine palmitoyltransferase deficiency
Berkman, N., Meirow, D., Katzir, Z., et al. (1993) · Journal of Internal Medicine · doi:10.1111/j.1365-2796.1993.tb00991.x · Cited by 5 · see citing works
Aktürk, H., Uysalol, M., Salman, N., et al. (2016) · Hong Kong Journal of Emergency Medicine · doi:10.1177/102490791602300309 · Cited by 4 · see citing works
Amato, A. A., & Dumitru, D. (2002) · Elsevier eBooks · doi:10.1016/b978-1-56053-433-4.50036-5 · Cited by 8 · see citing works
Severe periodic febrile myalgia in infancy due to carnitine palmitoyltransferase deficiency
Schiffmann, R., Lahat, E., & Schechter, A. (1992) · Neuromuscular Disorders · doi:10.1016/0960-8966(92)90061-a · Cited by 3 · see citing works
Kim, K. H., Park, H. J., & Kim, D. S. (2009) · Infection and Chemotherapy · doi:10.3947/ic.2010.42.2.76 · Cited by 1 · see citing works
Filho, W. D. O. C., Nicolini, E. A., Auxiliadora‐Martins, M., et al. (2002) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2002000400026 · Cited by 1 · see citing works
Jacobs, J. C. (1993) · Springer eBooks · doi:10.1007/978-1-4757-6150-4_6 · Cited by 1 · see citing works
Influenza A (H1N1) induced-myopathy: an important extrapulmonary complication
Oliveira, A. S. B. (2012) · Arquivos de Neuro-Psiquiatria · doi:10.1590/s0004-282x2012000500002 · Cited by 1 · see citing works
A 10-year-old boy with dark urine and acute kidney injury: answer
Joussain, C., Lamireau, D., Espil‐Taris, C., et al. (2011) · Pediatric Nephrology · doi:10.1007/s00467-011-1767-3
“Life-threatening rhabdomyolysis may be a consequence of any Influenza infection in patients with CPT II deficiency [3].”
BackgroundEnfermedades relacionadas con la nutricion: déficit de carnitina
Pontón, R. A. (2005) · Dialnet (Universidad de la Rioja)
Bonnefont, J., Colonna, M., Cepanec, C., Leroux, J. P., & Saudubray, J. (1991)
Carnitine palmitoyl transferase II deficiency, late onset
Nyhan, W., Hoffmann, G., Barshop, B., et al. (2011) · CRC Press eBooks · doi:10.1201/b13564-42
Treatment and Management of Hereditary Metabolic Myopathies
Vorgerd, M., & Deschauer, M. (2021) · Elsevier eBooks · doi:10.1016/b978-0-323-71317-7.00023-8
Carnitine palmitoyl transferase II deficiency, late onset
Nyhan, W., Hoffmann, G., Barshop, B., et al. (2011) · CRC Press eBooks · doi:10.1201/b15310-42
RHABDOMYOLYSIS AND MULTIORGAN FAILURE CAUSED BY CARNITINE PALMITOYL TRANSFERASE TYPE 2 DEFICIENCY
Nikolovska, L. M., Chadikovski, V., Manoleva, M., et al. (2025) · Macedonian Journal of Anaesthesia · doi:10.55302/mja259366mn
- Authors
- Kelly, K. J., Garland, J. S., Tang, T. T., Shug, A. L., & Chusid, M. J.
- Affiliations
- Children's Hospital of Wisconsin (US)
- ORCID
- Kelly, Kevin J.
- Venue
- PEDIATRICS
- Publisher
- American Academy of Pediatrics (AAP)
- Published
- 1989-08-01
- Volume
- 84
- Issue
- 2
- Pages
- 312-316
- ISSN
- 0031-4005 (ISSN-L)
- 1098-4275
- OpenAlex
- W1497207921
- Cited by
- 49
- References
- 0
- Citations by year
- 2025: 1 · 2021: 1 · 2020: 1 · 2017: 1 · 2016: 1 · 2014: 1 · 2013: 2 · 2012: 2
- FWCI
- 2.89
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- PEDIATRICS (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Health Sciences › Medicine › Surgery › Muscle and Compartmental Disorders
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Methemoglobinemia and Tumor Lysis Syndrome
- Keywords
- rhabdomyolysis, myoglobinuria, hyperkalemia, hypocalcemia, hyperphosphatemia, renal failure, cardiac arrhythmias, childhood onset
- MeSH terms
- Acyltransferases, Adolescent, Carnitine O-Palmitoyltransferase, Female, Humans, Influenza, Human, Muscles, Myoglobinuria, Influenza B virus, Rhabdomyolysis, Acute Kidney Injury
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review