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Mesenchymal Hamartoma of the Liver in an Infant With Beckwith-Wiedemann Syndrome: A Rare Condition Mimicking Hepatoblastoma.

Abrahao-Machado LF, de Macedo FC, Dalence C, Stambo G, Abrahao-Machado EF, Abrahao-Machado EC, Bahrami A, Nascimento AG - ACG Case Rep J (2015)

Bottom Line: Patients with Beckwith-Wiedemann syndrome (BWS) are known to be at an increased risk for childhood malignancies, particularly Wilms tumor and hepatoblastoma.We report a case of genetically confirmed BWS in a 5-month-old girl who presented with a 9.5-cm abdominal mass associated with elevated α-fetoprotein levels.Histologic examination of the surgically excised mass revealed mesenchymal hamartoma of the liver (MHL), a benign hepatic neoplasm.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, Barretos Cancer Hospital, Barretos, São Paulo, Brazil ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

ABSTRACT
Patients with Beckwith-Wiedemann syndrome (BWS) are known to be at an increased risk for childhood malignancies, particularly Wilms tumor and hepatoblastoma. We report a case of genetically confirmed BWS in a 5-month-old girl who presented with a 9.5-cm abdominal mass associated with elevated α-fetoprotein levels. The clinical impression was strongly suggestive of hepatoblastoma. Histologic examination of the surgically excised mass revealed mesenchymal hamartoma of the liver (MHL), a benign hepatic neoplasm.

No MeSH data available.


Related in: MedlinePlus

Abdominal magnetic resonance imaging (T2) demonstrates a large mass in the anterior upper abdomen.
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Figure 1: Abdominal magnetic resonance imaging (T2) demonstrates a large mass in the anterior upper abdomen.

Mentions: A 5-month-old female infant with known Beckwith-Wiedemann syndrome (BWS) was admitted following episodes of diarrhea and the discovery of an abdominal mass. The patient was born through an uneventful spontaneous vaginal delivery at 34 weeks of gestation, with a birth weight of 3,275 g (>97th percentile). Early in the postnatal period, the patient manifested hemihypertrophy, omphalocele, a “dimple” on the right ear lobe, capillary hemangioma, and persistent hypoglycemia; methylation analysis confirmed BWS.4,5 Serum α-fetoprotein (AFP) level was elevated at 814.3 ng/mL. Abdominal ultrasound (US) confirmed a large heterogeneous mass in the upper abdomen, displacing regional structures. Computed tomography (CT) and magnetic resonance imaging (MRI) suggested that the mass originated from the liver, measuring 8.8 x 8.4 x 7.7 cm (Figure 1). These clinical and laboratory findings suggested the mass was a hepatoblastoma.


Mesenchymal Hamartoma of the Liver in an Infant With Beckwith-Wiedemann Syndrome: A Rare Condition Mimicking Hepatoblastoma.

Abrahao-Machado LF, de Macedo FC, Dalence C, Stambo G, Abrahao-Machado EF, Abrahao-Machado EC, Bahrami A, Nascimento AG - ACG Case Rep J (2015)

Abdominal magnetic resonance imaging (T2) demonstrates a large mass in the anterior upper abdomen.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4508960&req=5

Figure 1: Abdominal magnetic resonance imaging (T2) demonstrates a large mass in the anterior upper abdomen.
Mentions: A 5-month-old female infant with known Beckwith-Wiedemann syndrome (BWS) was admitted following episodes of diarrhea and the discovery of an abdominal mass. The patient was born through an uneventful spontaneous vaginal delivery at 34 weeks of gestation, with a birth weight of 3,275 g (>97th percentile). Early in the postnatal period, the patient manifested hemihypertrophy, omphalocele, a “dimple” on the right ear lobe, capillary hemangioma, and persistent hypoglycemia; methylation analysis confirmed BWS.4,5 Serum α-fetoprotein (AFP) level was elevated at 814.3 ng/mL. Abdominal ultrasound (US) confirmed a large heterogeneous mass in the upper abdomen, displacing regional structures. Computed tomography (CT) and magnetic resonance imaging (MRI) suggested that the mass originated from the liver, measuring 8.8 x 8.4 x 7.7 cm (Figure 1). These clinical and laboratory findings suggested the mass was a hepatoblastoma.

Bottom Line: Patients with Beckwith-Wiedemann syndrome (BWS) are known to be at an increased risk for childhood malignancies, particularly Wilms tumor and hepatoblastoma.We report a case of genetically confirmed BWS in a 5-month-old girl who presented with a 9.5-cm abdominal mass associated with elevated α-fetoprotein levels.Histologic examination of the surgically excised mass revealed mesenchymal hamartoma of the liver (MHL), a benign hepatic neoplasm.

View Article: PubMed Central - PubMed

Affiliation: Department of Pathology, Barretos Cancer Hospital, Barretos, São Paulo, Brazil ; Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, MN.

ABSTRACT
Patients with Beckwith-Wiedemann syndrome (BWS) are known to be at an increased risk for childhood malignancies, particularly Wilms tumor and hepatoblastoma. We report a case of genetically confirmed BWS in a 5-month-old girl who presented with a 9.5-cm abdominal mass associated with elevated α-fetoprotein levels. The clinical impression was strongly suggestive of hepatoblastoma. Histologic examination of the surgically excised mass revealed mesenchymal hamartoma of the liver (MHL), a benign hepatic neoplasm.

No MeSH data available.


Related in: MedlinePlus