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Perinatal distress in 1p36 deletion syndrome can mimic hypoxic ischemic encephalopathy
Author(s) -
Carter Lauren B.,
Battaglia Agatino,
Cherry Athena,
Manning Melanie A.,
Ruzhnikov Maura RZ,
Bird Lynne M.,
Dowsett Leah,
Graham John M.,
Alkuraya Fowzan S.,
Hashem Mais,
Dinulos Mary Beth,
Vallee Stephanie,
Adam Margaret P.,
Glass Ian,
Beck Anita E.,
Stevens Cathy A.,
Zackai Elaine,
McDougall Carey,
Keena Beth,
Peron Angela,
Vignoli Aglaia,
Seaver Laurie H.,
Slavin Thomas P.,
Hudgins Louanne
Publication year - 2019
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61266
Subject(s) - hypoxic ischemic encephalopathy , distress , encephalopathy , medicine , fetal distress , hypoxia (environmental) , biology , pregnancy , fetus , clinical psychology , chemistry , genetics , organic chemistry , oxygen
1p36 deletion syndrome is a well‐described condition with a recognizable phenotype, including cognitive impairment, seizures, and structural brain anomalies such as periventricular leukomalacia (PVL). In a large series of these individuals by Battaglia et al., “birth history was notable in 50% of the cases for varying degrees of perinatal distress.” Given the potential for perinatal distress, seizures and PVL, we questioned if this disorder has clinical overlap with hypoxic ischemic encephalopathy (HIE). We reviewed the medical records of 69 individuals with 1p36 deletion to clarify the perinatal phenotype of this disorder and determine if there is evidence of perinatal distress and/or hypoxic injury. Our data provides evidence that these babies have signs of perinatal distress. The majority (59% term; 75% preterm) needed resuscitation and approximately 18% had cardiac arrest. Most had abnormal brain imaging (84% term; 73% preterm) with abnormal white matter findings in over half of patients. PVL or suggestion of “hypoxic insult” was present in 18% of term and 45% of preterm patients. In conclusion, individuals with 1p36 deletion have evidence of perinatal distress, white matter changes, and seizures, which can mimic HIE but are likely related to their underlying chromosome disorder.