Case Reports in Pediatrics

Matusak M., Aljabban J., Wirtz M., Agni R., Spengler E.

Drug-induced liver injury resulting from herbal and dietary supplement use is increasingly common and underrecognized. We report a case of a 34-year-old male recreational bodybuilder who presented with muscle cramping, fatigue, and diffuse itching in the setting of bodybuilding supplement use. Labs showed cholestatic liver injury, and liver biopsy revealed bland cholestasis and sinusoidal dilation. He was diagnosed with anabolic-androgenic steroid-induced liver injury. He was symptomatically managed with plasmapheresis for debilitating pruritus. This case highlights drug-induced liver injury as a complication of bodybuilding supplement use containing unlabeled anabolic-androgenic steroids. Sports medicine providers should inquire on herbal and dietary supplement use and be aware of potential contaminants.

Ghattas S., Al Bitar J., Chahine G., Kamar F., Haddad M., Wakim R.

Primary hepatic neuroendocrine tumors (PHNETs) are extremely rare and account for about 0.3% of all neuroendocrine tumor cases. Resection is usually difficult because they are usually diagnosed in the late stages. We report the case of a patient diagnosed with PHNETs, initially classified as unresectable but then underwent a successful left hepatectomy. PHNETs are rare malignant tumors, and a high index of suspicion is warranted for the diagnosis after excluding the presence of a primary extrahepatic lesion. Radical hepatectomy can be curative when feasible along with a combination of multiple treatments that improve the prognosis.

Haloub K., McNamara E., Yahya R.H.

Turmeric-induced liver injury is a controversial topic, and turmeric is safe to consume during pregnancy in small amounts; however, it might be an uncommon cause of liver injury if consumed in large amounts. We hereby report a case of a pregnant patient who demonstrated atypical signs and symptoms of dietary-induced liver injury during pregnancy. She presented with itching at 23 weeks 4 days of pregnancy and had deranged liver function tests and was diagnosed with dietary-induced liver injury. The patient was managed with a strict diet during the pregnancy which resulted in a significant improvement in the clinical and biochemical findings during the pregnancy.

Stüben B.-., Hoyer D.P., Radunz S., Saner F., Schmidt H., Baba H.A., Treckmann J.W., Mazilescu L.I.

Background. Acute liver injury is a life-threatening condition with disparate aetiology. Swift and adequate interdisciplinary treatment is essential to assure the best possible outcomes in these patients. Investigations to identify the cause of the condition and the implementation of quick and appropriate treatment can be lifesaving. Case Presentation. In October 2022, an otherwise healthy 66-year-old male presented at the University Hospital Essen with acute liver injury following an inclisiran injection for hypercholesterinaemia. Four weeks following admission, the patient fully recovered after initially receiving short-term cortisol therapy and open albumin (OPAL) dialysis, and the indices of liver, kidney, and coagulation function were normal at discharge. Conclusion. This is to our knowledge the first reported acute liver injury due to an inclisiran injection. Cortisol in combination with OPAL dialysis is an effective method for the treatment of acute liver injury caused by inclisiran injury, and in this case, it led to a near-complete reversal of the acute liver injury at the time of discharge.

Singh H., Kimchy A., Boustani C., Umoren M., Rangnekar A., Smith C.

Ectopic varices are an infrequent yet fatal complication resulting from the progression of liver cirrhosis. Duodenal varices pose a significant challenge to clinicians as they are not easily visualized on endoscopy due to their submucosal location and lack of red color signs. Identification of duodenal varices is important given the risk of massive and life-threatening bleeding that is difficult to control. Patients may present in hemorrhagic shock requiring immediate resuscitation; however, confirmation of the bleeding source as variceal or non-variceal is critical in determining the optimal therapeutic intervention. Here, we report an unusual case of a duodenal ulcer that eroded into an ectopic varix resulting in hemorrhagic shock.

Kazemimood R., Eliaszadeh S., Wind K.

Hepatic small vessel neoplasm (HSVN) is a rare vascular hepatic lesion that is usually an asymptomatic incidental finding. Here we present a case of a 66-year-old male with HSVN who was discovered to have a lesion presenting as a small nodule in an explanted liver. HSVN is a recently described hepatic vascular lesion that has been previously underdiagnosed. It has an uncertain long-term malignant potential, so close follow-up is recommended.

Wang P., Kuo Y., Sheu M., Kuo H., Lee W., Kuo Y., Wang S.

Lymphocyte-rich hepatocellular carcinoma (HCC) represents the rarest subtype among the various subgroups of HCC, and limited clinical data are available for this particular subtype. It is commonly observed as a solitary lesion and tends to present at an early stage. Histopathological examination typically reveals tumor cells infiltrated by a lymphocyte-rich background, leading to its designation as lymphoepithelioma-like HCC. Unlike other lymphoepithelioma-like tumors associated with the Epstein–Barr virus (EBV), lymphocyte-rich HCC is predominantly negative for EBV. This subtype is characterized by more favorable clinical outcomes and prognosis compared to conventional HCC. Here, we present a case of lymphocyte-rich hepatocellular carcinoma (HCC) characterized by the presence of bilateral hepatic tumors and concurrent multiple lymphadenopathy. Interestingly, contrary to previous literature, the examination for the Epstein–Barr virus (EBV) revealed a positive result in this particular case.

Youssef M., Mascia K.L., McGuire B., Patel C.R., Al Diffalha S., Dhall D., Lee G.

CALFAN syndrome is an extremely rare disease consisting of recurrent pediatric acute liver failure (PALF), neurodegenerative diseases, and skeletal abnormalities associated with SCYL1 gene mutation. To date, three of 18 patients reported underwent liver transplantation in infancy and early childhood (7–23 months). Here, we report a case of CALFAN syndrome with infantile onset, recurrent jaundice/PALF requiring liver transplantation in early adulthood. At the most recent follow-up, 3 years after transplantation, the patient is doing well.

Pahari H., Sonavane A., Raj A., Agrawal A.K., Sawant A., Gupta D.K., Gharat A., Raut V.

Background. Living donor liver transplantation (LDLT) has revolutionized the field of transplantation without compromising donor safety. Donor safety is of paramount concern to the transplant team. BMI >35 kg/m2 is mostly considered a contraindication to liver donation. Here, we present a successful right donor hepatectomy from a donor with a BMI of 36.5 kg/m2. Case Summary. A 39-year-old wife donated her right lobe of liver to her 43-year-old husband with nonalcoholic steatohepatitis-related chronic liver disease (CLD). His indications were refractory ascites, hepatic encephalopathy, acute kidney injury, recurrent elbow and urine infections leading to cachexia. She was initially rejected due to a high BMI but failed to lose weight over the next 2 months, and the need for a transplant in her husband was imminent. With no other potential living donors, we decided to proceed with donor evaluation as she had no other comorbidity. We were surprised to find normal liver function tests and a good liver attenuation index (LAI) of +16 on a computed tomography (CT) scan. Magnetic resonance (MR) imaging revealed a fat fraction of 3%. Volumetry confirmed a remnant of 37.9% and a potential graft-to-recipient weight ratio of 1.23. V/S ratio on CT scan (visceral fat area/subcutaneous fat area at L4-level) was <0.4 confirming subcutaneous fat obesity. Both surgeries were uneventful and both donor and recipient recovered well except recipient re-exploration on postoperative day (POD)-1 due to surgical bleeding. The donor was discharged on POD-6 and recipient was discharged on POD-15. At 3 weeks of follow-up, the donor’s wound is clean and well-healed, and she is already back to doing her daily life activities without any pain with normal laboratory parameters. Conclusion. Subcutaneous fat obesity should not be considered as a contraindication to liver donation even with a BMI >35 kg/m2. A small percentage of healthy individuals will not have visceral fat obesity and may not have steatotic livers. The CT scan and MR fat fraction estimation can confirm the findings. Biopsy may be avoided if MR fat estimation is <10% in obese donors. Intraoperative visualization in these donors remains the gold standard to decide the need for biopsy. Living donor hepatectomy may be safely performed in a select group of high BMI patients (>35 kg/m2) with pure subcutaneous fat obesity in the absence of other suitable living donors.

Kato T., Schammel C.M., Fenton H., Trocha S.D., Devane A.M.

Background. Ciliated hepatic foregut cyst (CHFC) is a rare, benign cyst of the liver, derived from the embryonic foregut epithelium. Although CHFCs are typically asymptomatic, some present with nonspecific abdominal symptoms. Imaging modalities alone are insufficient for diagnosis, with intrahepatic cholangiocarcinoma included in the differential due to nonspecific imaging features; definitive diagnosis relies on histologic confirmation. These lesions are often benign; however, larger lesions can have malignant transformation into squamous cell carcinoma (SCC), which carries a poor prognosis, thus making a definitive diagnosis, no matter what size, essential. Here, we present a case of CHFC as well as a comprehensive literature review. Given these data, we propose an algorithm for definitive diagnosis.

Losuwarat K., Luvira V., Thanasukarn V., Tipwaratorn T., Ungarreevittaya P.

Inflammatory myo-fibroblastic tumor (IMT) of the gallbladder is an extremely rare condition. Only seven cases have been reported. All of these were presented either with polyp/mass inside the gallbladder or gallbladder wall thickening, involving just one adjacent organ. We herein present a case of IMT of gallbladder presenting with a huge mass replacing the gallbladder with multiple organ involvement, successfully treated by en bloc multivisceral resection. Moreover, we have compared it with the characteristics of all reported cases of IMT of the gallbladder.

Abduljalil R., Ben Turkia H., Fakhroo A., Skrypnyk C.

Mitochondrial depletion syndromes are well established causes of liver failure in infants. Hepatocerebral variant related to MPV17 gene defect is characterized by infantile onset of progressive liver failure, developmental delay, neurological manifestations, lactic acidosis, hypoglycemia, and mtDNA depletion in liver tissue. We report a hepatocerebral variant of mitochondrial DNA depletion syndrome in a neonate who presented with septic shock picture, hypoglycemia, jaundice, hypotonia, and rotatory nystagmus. Family history was significant for consanguinity and a brother who died at the age of 4 months. Investigations showed mild liver function derangement contrasting with severe coagulopathy, hyperlactatemia, and generalized aminoaciduria. The brain MRI was normal. Next generation sequencing (NGS) panel identified a MPV17 gene missense homozygous pathogenic variant. The infant expired at the age of 2 weeks with refractory ascites. This case illustrates a challenging diagnosis causing liver failure and death in neonatal period. Genetic testing of mitochondrial DNA depletion syndromes should be a part of liver failure workup in addition to other treatable disorders presenting with encephalo-hepatopathy in infancy.

Glover Q., Rose W.N.

Wilson’s disease is a rare genetic condition that affects copper metabolism, resulting in tissue copper accumulation and resultant organ damage. We report a case of a young woman who presents with Wilson’s disease complicated by hemolysis, impaired hepatic function, coagulopathy, and acute kidney injury. She was treated with plasmapheresis as a bridge to a liver transplant. Her mental state, renal function, and bilirubin level improved after starting plasmapheresis. She successfully underwent a liver transplant and remained stable post-liver transplant. We share our experience on the use of plasmapheresis in treating Wilson’s disease.

Jiang S.X., Duncan J., Ko H.H.

Fanconi syndrome is a rare disease of generalized proximal tubule dysfunction which can be acquired secondary to certain medications, including tenofovir, a commonly used hepatitis B treatment. Signs and symptoms of ensuing renal wasting can be severe but vague, leading to potentially avoidable invasive investigations and delays in diagnosis. We present a case of a 62-year-old female with chronic hepatitis B on tenofovir treatment who was found to have subacute weakness, anorexia, and weight loss. She underwent extensive investigations including computed tomography (CT) imaging, bronchoscopy, upper and lower endoscopy, and psychiatric evaluation. Finally, persistent electrolyte derangements led to urine studies, which demonstrated acquired Fanconi syndrome secondary to tenofovir. After discontinuing tenofovir disoproxil fumarate and starting tenofovir alafenamide, her symptoms resolved and her renal function recovered. This case illustrates the importance of maintaining clinical suspicion for tenofovir-induced Fanconi syndrome, given the common use of tenofovir as first-line hepatitis B treatment and the availability of less nephrotoxic alternatives.

Salama F., Leyson A.C., Shah M., Galuppo Monticelli R.

Hepatic encephalopathy (HE) is a frequent and serious complication of chronic liver disease. The mechanism of hepatic encephalopathy is not entirely clear. Hepatic encephalopathy is defined as brain dysfunction caused by liver insufficiency and/or portal-systemic blood shunting. It manifests as a wide spectrum of neurological or psychiatric abnormalities, ranging from subclinical alterations, detectable only by neuropsychological or neurophysiological assessment, to coma. Liver transplant (LT) is the definitive treatment for refractory hepatic encephalopathy. In this case, we present a challenging case of refractory hepatic encephalopathy in a postliver transplant patient with portal vein thrombosis and a splenorenal shunt treated with a novel technique to address his complex anatomy.