Shwachman-Diamond syndrome in a Mexican family.

Shwachman-Diamond Syndrome (SDS) is an inherited condition with multisystemic abnormalities including pancreatic exocrine dysfunction, neutropenia, short stature, and skeletal abnormalities. In this report, we describe the case of a 14-year-old female with a history of neutropenia, pancreatic exocrine insufficiency and pancreatic endocrine sufficiency, pancreatic lipomatosis (10), and the development of myeloid leukemia. Postmortem examination revealed a high probability of SDS. We also describe the clinical findings in the patient's six siblings, suggesting this as a familial form of SDS. Because the gene(s) responsible for this syndrome have not yet been identified, genetic confirmation is not yet possible. This is the first report in the literature of a Mexican family with probable SDS.

[Mastocytosis in children. Report of 3 cases]. / Mastocitosis en la edad pediátrica. Comunicación de tres casos.

The mastocytosis is a disease characterized by an increase in mast cell number, and may present in childhood. It is classified as cutaneous or systemic mastocytosis. Cutaneous mastocytosis generally is selected in childhood. It is important to be aware of systemic complications. Systemic mastocytosis is adult-onset and its clinical presentations is caused by histamine, leucotrienes, prostaglandins and other mediators' release. The treatment is directed at symptomatic relief. Several cases are reported at Hospital Infantil de México Federico Gómez. Only 3 cases are presented of these benign child-onset diseases.

[Disseminated histoplasmosis in children]. / Histoplasmosis diseminada en niños.

Disseminated histoplasmosis is a rare and severe form of the infection due to the fungus Histoplasma capsulatum. This form of disease is seen mainly in patients with some sort of immune deficiency either primary or secondary, in children under two years and in elderly people. An autopsy review at the Hospital Infantil de México Federico Gómez disclosed eight cases of lethal disseminated histoplasmosis in an eight year period. All patients were malnourished, one of them also had a primary immunodeficiency an another had acquired immune deficiency syndrome. The age range was from two months to seven years; five patients were males. The organs more frequently affected were lungs, liver and spleen. In seven patients the diagnosis was established at postmortem study. The patients came from Morelos, Veracruz, Guerrero and Chiapas, regions considered endemic for histoplasmosis. A careful analysis of the clinical symptoms together with a detailed information of the living environment of patients, will lead to an accurate diagnosis and management of children with this disease.

[Congenital and neonatal varicella. A report on 9 cases]. / Varicela congénita y neonatal. Presentación de nueve casos.

Varicella infection in the first month of life is rare. Neonates may be infected through the placenta or in the perinatal period. In Mexico, the experience with neonatal varicella infection is limited; on the other hand this disease may be misdiagnosed in the neonate. The purpose of this work is to inform nine patients which presented varicella in the neonatal period; in six cases the disease was observed after the 10th but before the 30th day of life; in the remaining cases, the disease was present before the 10th day. Only one patient was premature. Five patients developed varicella in the hospital; in three cases, the mother presented the disease nine, eight, and one day prior delivery; one patient was exposed to varicella in his home. Four patients died but only in one case the death was attributed to varicella.