Subject(s)
Gene Fusion , Glioma/genetics , Neoplasms, Nerve Tissue/genetics , Proto-Oncogene Proteins B-raf/genetics , Sequence Deletion , Spinal Cord Neoplasms/genetics , Adolescent , Child, Preschool , Female , Follow-Up Studies , Glioma/diagnostic imaging , Glioma/metabolism , Glioma/pathology , Humans , Male , Neoplasm Grading , Neoplasms, Nerve Tissue/diagnostic imaging , Neoplasms, Nerve Tissue/metabolism , Neoplasms, Nerve Tissue/pathology , Spinal Cord/diagnostic imaging , Spinal Cord/metabolism , Spinal Cord/pathology , Spinal Cord Neoplasms/diagnostic imaging , Spinal Cord Neoplasms/metabolism , Spinal Cord Neoplasms/pathology , Young AdultABSTRACT
: 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.
Subject(s)
Hepatectomy/methods , Hepatoblastoma/surgery , Liver Neoplasms/surgery , Portal Vein/surgery , Humans , Infant , Infant, Newborn , Ligation/methods , Male , Treatment OutcomeSubject(s)
Fever , Skin/pathology , Sweet Syndrome/diagnosis , Exanthema/etiology , Humans , Infant , MaleABSTRACT
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.
Subject(s)
Antineoplastic Agents, Phytogenic/administration & dosage , Etoposide/administration & dosage , Heart Neoplasms/drug therapy , Sarcoma/drug therapy , Administration, Oral , Biopsy , Child , Female , Heart Neoplasms/pathology , Humans , Remission Induction , Sarcoma/pathologyABSTRACT
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.
Subject(s)
Marfan Syndrome/genetics , Microfilament Proteins/genetics , Protein Serine-Threonine Kinases/genetics , Receptors, Transforming Growth Factor beta/genetics , Aorta/pathology , Child , Codon, Nonsense , DNA Mutational Analysis , Dilatation, Pathologic , Extracellular Matrix Proteins , Female , Fibrillin-1 , Fibrillins , Humans , Magnetic Resonance Imaging , Marfan Syndrome/diagnosis , Marfan Syndrome/surgery , Mutation , Phenotype , Receptor, Transforming Growth Factor-beta Type I , Receptor, Transforming Growth Factor-beta Type IIABSTRACT
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.
Subject(s)
Gaucher Disease/complications , Lung Diseases, Interstitial/surgery , Lung Transplantation , Comorbidity , Female , Gaucher Disease/classification , Gaucher Disease/epidemiology , Gaucher Disease/physiopathology , Glucosylceramidase/therapeutic use , Humans , Infant , Lung Diseases, Interstitial/epidemiology , Lung Diseases, Interstitial/etiologyABSTRACT
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.