ABSTRACT
The authors report a male infant born at 35 weeks gestational age with an atypical presentation of homozygous alpha-thalassemia. The live-born infant displayed abnormalities of the upper limbs and genitalia, which are vascular-type disruptive defects associated with this disease. Cardiomegaly and placentomegaly were the only evidence of fetal hydrops. Postnatal karyotype revealed mosaicism for trisomy 7, yet another rare finding in a live-born. The authors discuss their institutional experience with each of these rare conditions and the potential contribution of each to the overall unusual clinical presentation in this patient. This is the first report of these simultaneous diagnoses.
Subject(s)
Abnormalities, Multiple/genetics , Chromosomes, Human, Pair 7/genetics , Mosaicism , Trisomy/genetics , alpha-Thalassemia/genetics , Adult , Fatal Outcome , Female , Homozygote , Humans , Hydrops Fetalis/genetics , Infant , Male , Pregnancy , Ultrasonography, PrenatalABSTRACT
We describe a newborn infant who was born with a purpuric rash and subcutaneous nodules. Skin biopsies demonstrated acute myeloid leukemia. Cytogenetic studies revealed an 11q23 rearrangement. Initial bone marrow and cerebrospinal fluid examination did not demonstrate medullary or meningeal disease. Chemotherapy was initiated on the basis of the abnormal cytogenetic findings in the skin biopsy. Intensive chemotherapy was, given but the infant's leukemia progressed. The patient died of refractory leukemia and secondary fungal disease. This case report supports the observation that leukemia cutis with an 11q23 rearrangement should be treated aggressively.
