Modified Associating Liver Partition and Portal Vein Ligation for Staged Hepatectomy for Hepatoblastoma in a Small Infant: How Far Can We Push the Envelope?

: For patients with hepatoblastoma, a timely and complete resection of the tumor is critical to the patient's tumor recurrence-free survival. Associating liver partition and portal vein ligation for staged hepatectomy (ALPPS), a 2-stage hepatectomy procedure, has revolutionized the surgical management of large hepatic tumors with insufficient future liver remnant (FLR) at presentation. Although existing data support the utility of ALPPS in adults with primary and metastatic hepatobiliary malignancy, the literature in children is scarce. To our knowledge, this is the first report showing clinical applicability and safety of the modified ALPPS procedure in a small infant (54 days old) with hepatoblastoma who presented with insufficient FLR. Our report suggests the modified ALPPS could potentially expand the surgical treatment alternative for small infants with large hepatoblastoma.

Significant response to oral Etoposide in the treatment of an unresectable cardiac sarcoma.

Primary cardiac sarcomas are rare and carry a poor prognosis. The standard of care is complete resection. Outcomes for patients without complete resection are dismal, and the benefit of adjuvant therapy is uncertain. A 9-year-old girl presented with a large right-sided cardiac mass. After biopsy, the tumor was classified as an undifferentiated sarcoma. Resection was not feasible due to apparent invasion of the right ventricle and atrioventricular groove. Treatment with oral etoposide resulted in a 97% reduction in tumor volume and allowed for complete resection of residual tumor. She is alive with no evidence of disease 25 months from diagnosis.

Marfan syndrome type II: there is more to Marfan syndrome than fibrillin 1.

Marfan syndrome is a well-described autosomal dominant syndrome with widely variable clinical manifestations. Cardiovascular complications include mitral valve prolapse with or without associated mitral valve insufficiency, aortic root dilatation, and most importantly the occasional development of aortic aneurysms or rupture. Given the inconsistent phenotype along with the potentially life-threatening implications, clinicians are increasingly turning to genetic testing for definitive diagnostic confirmation. It has been well established that mutations in the FBN1 gene encoding the structural protein Fibrillin 1 is the molecular etiology of Marfan syndrome. However, there are numerous patients who meet the Ghent clinical diagnostic criteria for Marfan syndrome who do not have identifiable FBN1 mutations. Recently, mutations in TGFBR1 and TGFBR2 (transforming growth factor beta receptors 1 and 2, respectively) have been shown to result in Loeys-Dietz syndrome, a connective tissue disorder with significant phenotypic overlap with Marfan syndrome. Individuals with this Marfanoid disorder lack the ocular findings of Marfan syndrome and often have dysmorphic features such as unusual facies, cleft palate, and contractures. In addition, Loeys-Dietz syndrome patients often present in childhood with significant cardiovascular problems. This article serves to report an illustrative case of Loeys-Dietz syndrome and reviews the phenotypic consequences of FBN1 and TGFBR1 and TGFBR2 gene mutations.

Bilateral lung transplant in Gauchers type-1 disease.

We report a case of a patient who received a bilateral lung transplant for end-stage lung disease secondary to Gauchers type-1 disease with no evidence of recurrence of the disease in the transplanted lung.

Sudden and unexpected fetal death associated with agenesis of the arcuate nucleus in the medulla oblongata.

Abnormalities have been reported in the medullary arcuate nucleus (ARCN) in unexpected late fetal death. They speculated that this developmental anomaly may underlie cardioventilatory abnormalities intrapartum and postpartum. This article describes a case of an unexpected late fetal death associated with absence of the ARCN.