Hepatocellular carcinoma in children associated with Gardner syndrome or familial adenomatous polyposis.

PURPOSE: Gardner syndrome, a variant of familial adenomatous polyposis, is characterized by colonic polyps that undergo malignant change and benign and malignant extracolonic lesions. Tumors frequently associated with Gardner syndrome include carcinoma of the ampulla of Vater, papillary carcinoma of the thyroid, and, in children, hepatoblastoma. The childhood malignancies often precede the appearance of other manifestations by several years. PATIENTS AND METHODS: Two patients are described. Gardner syndrome was diagnosed in a 15-year-old girl with fibrolamellar hepatocellular carcinoma after desmoid tumors and colonic polyposis developed. Classic hepatocellular carcinoma was also diagnosed in a 9 1/2-year-old boy with familial adenomatous polyposis. RESULTS: In patient 1, the diagnosis of fibrolamellar hepatocellular carcinoma preceded the diagnosis of Gardner syndrome by almost 2 years. The diagnosis was confirmed by identifying a germline mutation of the adenomatous polyposis coli (APC) gene. This is the first patient reported with fibrolamellar hepatocellular carcinoma associated with Gardner syndrome. Patient 2 had a strong family history of familial adenomatous polyposis but no manifestations of Gardner syndrome. He was not tested for the APC mutation. The current literature and previously reported cases of hepatocellular carcinoma in patients with Gardner syndrome or familial adenomatous polyposis are reviewed. CONCLUSIONS: Because hepatocellular carcinoma is uncommon in the pediatric and adolescent population, it is important to consider the possibility of Gardner syndrome or familial adenomatous polyposis in these patients.

Primary amoebic meningoencephalitis after swimming in the Rio Grande.

We report a case of fatal primary amoebic meningoencephalitis (PAM) with Naegleria fowleri in a 13-year-old male, and review the clinical course and diagnostic autopsy findings. The boy developed the infection after swimming with relatives in the Rio Grande and in a holding tank containing water pumped from the river. The clinical and neuropathologic features of PAM are presented. The microscopic features of motile unicellular organisms with pathognomonic broad, lobate pseudopodia are diagnostic and, if recognized before death, allow for timely treatment. A public health investigation into this case implicated river water from the Rio Grande polluted with sewage as the infection source. Exposure to polluted river water from some areas of the Rio Grande may represent a risk factor for infection with Naegleria fowerli, because the high levels of coliform bacteria found in sewage and the warm, sluggish water of the river are favorable growth conditions for the amoebae. Because the Rio Grande is an international border, this case illustrates the importance of international cooperation in pollution control in the prevention of a potentially fatal infectious disease.

Hernia uterus inguinale associated with unicornuate uterus.

Hernia uterus inguinale, a condition in which endometrium and myometrium are found in an ectopic location in the inguinal canal, is a rare congenital abnormality in women. A woman with a normal number of chromosomes (46,XX) demonstrated the presence of a uterus, fallopian tube, and ovary in an inguinal hernia associated with a unicornuate uterus. This represents a unique abnormality in the spectrum of lateral fusion defects associated with müllerian ductal development, which normally proceeds as the right and left systems fuse and form the uterus, cervix, and four fifths of the vagina. In this patient, the left müllerian system apparently failed to fuse with the right, instead assuming a location within the patient's inguinal canal.