Theresa B. Haddy

Hereditary hemochromatosis in children, adolescents, and young adults

Hereditary hemochromatosis is the most common cause of iron overload in adults and is probably the second most common cause of iron overload in children in the United States next to transfusional overload. Serious morbidity from this disorder of iron absorption can occur in early as well as in middle and advanced age, iron overload having been reported in children with hereditary hemochromatosis as early as 2 years of age. Younger persons differ from older persons in that the risk for iron loading in females appears to be equal to the risk for males, in contrast to a preponderance of males among older patients. Also, younger patients frequently demonstrate cardiac and gonadal involvement, with cardiac failure commonly leading to death, whereas older patients are more likely to have liver involvement and diabetes mellitus, with liver failure and hepatoma commonly leading to death. Because early diagnosis and treatment can prevent the toxicities of iron overload, appropriate screening can be lifesaving. Transferrin saturation is the most reliable screening test. Liver biopsy with objective measurement of hepatic iron stores is the most important diagnostic criterion at present, although reliable noninvasive methods for quantitating body iron are being developed. Young individuals who should be screened for iron overload include patients with cardiac myopathies, hypogonadism, amenorrhea, loss of libido, diabetes mellitus, other endocrine disorders, cirrhosis of the liver, and arthritis, as well as the siblings, parents, and children of patients with hereditary hemochromatosis or iron loading of unknown cause.

Testicular involvement in young patients with non-Hodgkin's lymphoma

Because of its rarity, there is a paucity of information in the medical literature about testicular lymphoma in young people. In our series of 99 patients with non-Hodgkins lymphoma, 12% percent of the male patients had one or both testes involved at the time of diagnosis. Of the nine patients with testicular disease, six had Burkitts, one undifferentiated non-Burkitts, one diffuse large cell, and one lymphoblastic lymphoma. The mean age was 17.8 years (range, 2–30 years). Seven patients had unilateral and two had bilateral clinical testicular involvement, and all nine had extensive disease with abdominal involvement. Gallium scan indicated occult disease in the contralateral testis in two patients, bringing the total number with bilateral disease to four. In the patients with nonlymphoblastic lymphoma, the mean duration of survival was 68.3 months for three patients with long-term remissions and 4.4 months for five patients who died. The poor survival probably reflects extensive disease rather than testicular involvement per se. One patient relapsed in the testis, but achieved long-term survival after orchiectomy, scrotal irradiation, and continuation of the same systemic chemotherapy, suggesting that the testis may be a sanctuary site. Local therapy is considered to be an important component of treatment.

Leukocyte response to administration of corticosteroid in healthy black children with neutropenia

After a challenge with corticosteroid, increments in the absolute neutrophil count were > 50% in eight healthy black children with neutropenia, and > 2.0 x 10(9)/L (> 2000/mm3) in all but one child. Decrements in the absolute lymphocyte count mirrored the increments. Stimulation with hydrocortisone may be useful in characterizing ethnic neutropenia.

Hepatic cyst associated with ventriculoperitoneal shunt in a child with brain tumor.

A 12-year-old boy with a thalamic grade IV astrocytoma and ventriculoperitoneal (VP) shunt developed epigastric pain and symptoms of increased intracranial pressure. The SGOT and alkaline phosphatase levels were markedly elevated and the radiological studies showed a cyst in the right lobe of the liver, extending to the porta hepatis. Simple repositioning of the shunt resulted in complete resolution of clinical findings and disappearance of the cyst. Although abdominal pseudocysts associated with VP shunts have been reported, this is the first report of a cyst involving liver and causing hepatic dysfunction.