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Pathological Case of the Month

Khodayar Rais-Bahrami, MD; Dena M. Selby, MD
Arch Pediatr Adolesc Med. 1996;150(6):647-648. doi:10.1001/archpedi.1996.02170310081016.
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A MALE INFANT weighed 2295 g at 37 weeks' gestation and was born by pitocin-induced vaginal delivery to a 23-year-old, gravida 4, para 3, aborta 1, mother. The pregnancy was complicated by late-onset, pregnancy-induced hypertension and polyhydramnios. The baby was severely hypotonic with poor respiratory effort and an Apgar score of 3/6 at 1 and 5 minutes. He was resuscitated, intubated, and maintained on mechanical ventilatory support. Physical examination revealed generalized hypotonia, pectus excavatum, mild facial dysmorphism including downslanting of palpebral fissures, high-arched palate, low-set ears, and long-tapering fingers. Metabolic evaluation, long-chain fatty acids, creatine phosphokinase, and skeletal survey were nonsignificant. Chromosome karyotype was 46,XY. Electroencephalographic findings were consistent with mild diffuse encephalopathy with slow background in the left temporal area. A cranial computed tomographic scan and magnetic resonance imaging revealed evidence of intraventricular hemorrhage with moderate ventriculomegaly. The infant's male sibling died at 4 months of an unknown neuromuscular


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