Background: Munchausen syndrome by proxy (MSBP) or factitious disorder imposed on another (FDIA) is a bizarre psychiatric entity, consisting of the fabrication of symptoms and alteration of laboratory tests by a caregiver. It is considered a serious form of child abuse. Alarm signs are frequent medical visits and strange symptoms that are never objectified during hospitalization. Methods: This case sets a bright light on how difficult the diagnosis and management of FDIA is and the severe consequences this disease has on a defenseless child. Results (Case report): A boy who is 3 years 8 months old first presented to our department in October 2022 for prolonged fever. We ruled out infections, malignancies, and autoimmune diseases. The patient kept coming back once every fortnight for the same reason—fever, every time associating it with something in particular and new—from painful joints to hemorrhagic complaints. Interestingly, with every new visit, the patient’s medical history became more complex. The mother also developed an attachment relationship with the medical staff. During a 4-month period of repeated admissions, the child’s symptoms were never objectified throughout hospitalization, and never consistent with the declared symptoms and test results. When the physician’s attitude changed from empathic to distant, she never came back for check-ups. Conclusions: A pediatrician’s work largely depends on good communication with the parents. When there is no medical explanation for declared symptoms, one might question the merit of the story.

Background: According to a WHO global hepatitis report, the global prevalence of hepatitis B in 2022 was 254 million and for hepatitis C it was 50 million. The estimated number of people newly infected by viral hepatitis declined from 3 million in 2019 to 2.2 million in 2022. Of these, 1.2 million are hepatitis B infections and nearly 1.0 million are hepatitis C infections. Regarding vertical transmission, it is estimated that 4 to 5 million children are infected worldwide every year from HBV-positive mothers. The United States declared that hepatitis C is the commonest chronic blood-borne infection, with an increase in HCV birth infections from 1.8 to 4.7 per 1000 births. Objectives: This systematic review focuses on highlighting the most suitable screening methods and maternal interventions to prevent HBV/HCV mother-to-child transmission, as well as the appropriate prophylactic strategies for newborns. Materials and methods: We searched a medical database (PubMed) to find papers regarding mother-to-child transmission of hepatitis B and C. Inclusion criteria were human-based studies, studies with large cohorts of subjects, studies conducted in different parts of the globe and position papers from various international associations. Exclusion criteria were non-human-based studies and non-English publications. To present and synthesize results we made use of thematic analysis and narrative synthesis. Results: We included 103 publications. For hepatitis B, the combination of maternal antiviral therapy during pregnancy and timely administration of HBV vaccine alongside HBIG to the newborn has proven to be highly effective in lowering transmission rates. Hepatitis C vertical transmission lacks an effective vaccine or immuno-prophylaxis, turning prevention strategies into a continuous battle. Conclusions: Vertical transmission of hepatitis B and C continues to be a major contributor to the global burden of chronic viral hepatitis. Strengthening prenatal care programs, improving access to diagnostic and therapeutic resources and enhancing public health policies are essential to curb vertical transmission of both hepatitis B and C.

Background: Acid sphingomyelinase deficiency (ASMD), most commonly known as Niemann–Pick disease (NPD), is a rare progressive genetic disorder regarding lipid storage. Subtypes A and B are inherited in an autosomal recessive fashion and consist of a genetic defect which affects the sphingomyelin phosphodiesterase 1 gene, leading to residual or lack of enzymatic activity of acid sphingomyelinase (ASM). Materials and Methods: This paper provides a brief history and overview to date of the disease and a comprehensive review of the current literature on ASMD in children, conducted on published papers from the past 10 years. Results: We identified 19 original publications (16 individual case reports and three series of cases—30 patients). The male/female ratio was 1.4. The youngest patient at disease onset was a female newborn with NPD-A. The youngest patient was diagnosed at 4 months. The longest timeframe between onset symptoms and diagnostic moment was 5 years 3 months. A total of nine patients exhibited red cherry macular spots. A total of 13 children exhibited associated lung disease, and four NPD-A patients with pulmonary disease died due to respiratory complications. A total of 11 children exhibited associated growth impairment. Genetic assays were performed in 25 cases (15 homozygous; 9 heterozygous). A total of four children (13.3%) received enzyme replacement therapy (ERT). Therapy outcomes included decreased liver and spleen volumes, improved platelet and leukocytes counts, and body mass index and stature improvement. Conclusions: Sometimes, a small child with a big belly hides a huge dilemma; inherited metabolic disorders are here to challenge clinicians and set the record straight, and genetics is the way of the future in terms of diagnosis and novel treatments. NPD must be considered children with persistent and progressive hepatosplenomegaly and growth failure. Diagnosis requires good clinical skills and access to genetic assays. Since 2022, the FDA has given a green light to a revolutionary enzymatic replacement therapy with human recombinant ASM called Olipudase-alfa. Clinical trial outcomes support its reliability and efficacy in the pediatric population.

Munchausen syndrome by proxy (MSBP) or factitious disorder imposed on another (FDIA) is a bizarre psychiatric entity, consisting in fabrication of symptoms and alteration of laboratory tests by a caregiver. It is considered a serious form of child abuse. Alarm signs are frequent medical visits, strange symptoms which are never objectified during hospitalization. 3 years 8 months old boy first presented to our department in October 2022 for prolonged fever. We ruled out infections, malignancies, autoimmune diseases. The patient kept coming back once every fortnight for the same reason – fever, every time associating something particular and new - from painful joints to hemorrhagic complaints. Interestingly, with every new visit, the patient’s medical history became more complex. The mother also developed an attachment relationship with the medical staff. During a 4 months period of repeated admissions, child’s symptoms were never objectified throughout hospitalization, never consistent with the declared symptoms and test results. When the physician’s attitude changed from empathic to distant, she never came back for check-ups. A pediatrician work largely depends on a good communication with the parents. When there is no medical explanation for declared symptoms, one might question the merit of the story. This case sets a bright light on how difficult the diagnosis and management of FDIA is and the severe consequences this disease has on a defenseless child.

Background and Clinical Significance: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders consisting of mutations of hepatocyte transporting-system genes involved in bile formation. The exact prevalence remains unknown but is estimated at 1 in 500.000 for PFIC 3, caused by mutations in the ABCB4 gene. We report three cases of PFIC 3 from the patient’s sister, brother, and cousin, diagnosed in our Pediatric Department in 2022–2023. Case Presentation: Case 1: A 10-year-old girl was admitted for jaundice and abdominal pain. She was diagnosed with severely advanced hepatic cirrhosis and massive cholestasis. Genetic testing showed ABCB4 homozygous mutation. She rapidly developed fulminant liver failure, and a living donor liver transplant was performed. Case 2: A 6-year-old brother was previously diagnosed with cholestatic hepatitis of unknown cause back in 2018 and presented with similar features (generalized jaundice, severe pruritus with generalized scratching lesions); symptoms had progressively developed from the first year of life. He also exhibited particular facial features (big forehead, twisted ear lobe, straight nose). He received cadaveric liver transplantation. Case 3: Nephew of first two children, a 3-year-5-month-old boy, was admitted for failure to thrive and a one-year history of jaundice, pruritus, and splenomegaly. He was tested positive for homozygous ABCB4 mutation. He is currently under medical treatment with stable liver function. Conclusions: The clinical significance of this particular homozygous variant identified in ABCB4 in our series of cases (c.2534G>T (p.Gly845Val)) was uncertain up to this case report. The present data provide convincing evidence as to the correlation between this mutation and the clinical phenotype of PFIC 3.