Genetic counseling is imperative for the success of newborn screening for CF and other congenital diseases. With the completion of the Human Genome Project, more molecular screening for childhood disease is bound to enter the clinical arena. Based on our findings, efforts must be made to ensure that newborn screening programs have the means and the methods to communicate newborn screening results effectively to families. In addition, both the general public and community health providers must be better informed of the implications of all newborn screening results. Additional research is needed to determine whether there are communication styles and approaches that are better suited to counseling parents regarding newborn screening results.
Neuroectodermal melanolysosomal disease, also known as Elejalde syndrome, is a rare syndrome characterized by silvery hair, pigment abnormalities, and profound central nervous system dysfunction. It is similar to the Chediak-Higashi and Griscelli syndromes, although these syndromes are associated with severe immunologic dysfunction. We report on a 12-year-old male with Elejalde syndrome and compare the Elejalde, Chediak-Higashi, and Griscelli syndromes.
The Nager syndrome is the most common form of acrofacial dysostosis. Although autosomal dominant and recessive forms of acrofacial dysostosis have been described the molecular etiology of these disorders is unknown. We report on a child with acrofacial dysostosis, critical aortic stenosis, and a deletion of chromosome 1q involving the heterochromatic block and adjacent euchromatin.
Central diabetes insipidus (CDI) is a rare reported complication of acute myeloid leukemia (AML). The onset of AML-associated CDI often precedes the diagnosis of AML by weeks or months and is considered an adverse prognostic indicator in this setting. The mechanism of AML-associated CDI is not known; however, it is often reported in the setting of cytogenetic events resulting in MDS1 and EVI1 complex locus protein (MECOM) gene overexpression. Here, we describe a case of new onset CDI which preceded a diagnosis of AML by 1 month. We detail the clinical and laboratory evaluation of the patient’s CDI, and we describe the pathological and laboratory workup of their AML, which ultimately yielded a diagnosis of AML with myelodysplasia-related changes. Additional cytogenetic findings included the identification of the t (2;3)(p23;q27), which leads to MECOM gene overexpression and which to our knowledge has not previously been reported in the setting of AML-associated CDI. The patient received induction chemotherapy followed by allogeneic hematopoietic stem cell transplantation but experienced disease relapse and passed away nine months after initial diagnosis. We emphasize that new onset CDI can occur as a rare complication of AML where it portends a poor prognosis and may be related to AML subtypes displaying MECOM gene dysregulation.
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