Munchausen syndrome by proxy or metabolic deficit? The diagnosis requires a multidisciplinary approach

AUTORI

Gabriele Napoletano¹, Lina De Paola¹, Enrico Marinelli², Simona Zaami¹
¹Department of Anatomical, Histological, Forensic and Orthopedic Sciences, Sapienza University of Roma, Italy
²Department of Medico-Surgical Sciences and Biotechnologies, Sapienza University of Rome, Latina (Roma), Italy

ABSTRACT

Genetic disorders associated to mitochondrial fatty acid β-oxidation deficiency are rare autosomal recessive disorders that often appear early in childhood. Affected individuals display a wide range of symptoms that may include hypoglycemia, intermittent hemoglobinuria, muscle weakness, liver, neurological disorders and heart abnormalities. These disorders can mimic Munchausen by Proxy (MBP), a form of caregiver-induced disease. Ruling out genetic or metabolic causes is crucial in such cases to avoid misdiagnosis and potential harm to both the child and the caregiver (often the mother). In a forensic context, investigating metabolic and genetic abnormalities can aid in identifying cases of child abuse or poisoning. A case regarding a 3-year-old girl admitted to the hospital with suspected MBP due to benzodiazepines (midazolam) administration is described. The importance of a thorough evaluation is highlighted, considering that genetic testing revealed a familial mitochondrial disorder, excluding MBP as the cause of the child clinical symptoms. This case underscores the need for comprehensive assessments to ensure accurate diagnoses and appropriate interventions, especially when young children are involved.

BIBLIOGRAFIA

1. Sousa Filho D, Kanomata EY, Feldman RJ, Maluf Neto A. Munchausen syndrome and Munchausen syndrome by proxy: a narrative review. Einstein (Sao Paulo) 2017;15:516-21.
2. Pankratz L. Persistent problems with the Munchausen syndrome by proxy label. J Am Acad Psychiatry Law 2006; 34:90-5.
3. Barcelo B, Noce V, Gomila I. Building Bridges between Clinical and Forensic Toxicology Laboratories. Curr Pharm Biotechnol 2018;19:99-112.
4. Gomila, V. López-Corominas, M. Pellegrini, L. Quesada, E. Miravet, S. Pichini, B. Barceló, Alimemazine poisoning as evidence of Munchausen syndrome by proxy: A pediatric case report, Forensic Sci Int 2016;266:e18-22.
5. Bartsch C, Risse M, Schütz H, Weigand N, Weiler G. Munchausen syndrome by proxy (MSBP): an extreme form of child abuse with a special forensic challenge. Forensic Sci Int 2003;137:147-51.
6. Yates G, Bass C. The perpetrators of medical child abuse (Munchausen Syndrome by Proxy) – A systematic review of 796 cases. Child Abuse Negl 2017;72:45-53.
7. Kuhne ACA, Pitta AC, Galassi SC, Gonçalves AMF, Cardoso ACA, Paz JA, et al. Munchausen by proxy syndrome mimicking childhood-onset systemic lupus erythematosus. Lupus 2019;28:249-52.
8. Mahesh VK, Stern HP, Kearns GL, Stroh SE. Application of pharmacokinetics in the diagnosis of chemical abuse in Münchausen syndrome by proxy. Clin Pediatr (Phila) 1988;27:243-6.
9. Vockley J. Rimoin D, Pyeritz R, Korf B. Chapter 97 – Organic acidemias and disorders of fatty acid oxidation. Emery and Rimoin’s Principles and Practice of Medical Genetics. Oxford: Academic Press; 2013. 01–33.
10. Vester ME, Bilo RA, Karst WA, Daams JG, Duijst WL, van Rijn RR. Subdural hematomas: glutaric aciduria type 1 or abusive head trauma? A systematic review. Forensic Sci Med Pathol 2015;11:405-15.
11. Perales-Clemente E, Hewitt AL, Studinski AL, Tillema JM, Laxen WJ, Oglesbee D, et al. Bilateral subdural hematomas and retinal hemorrhages mimicking nonaccidental trauma in a patient with D-2-hydroxyglutaric aciduria. JIMD Rep. 2020;58:21-8.