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Fetal intracranial calcification: Pseudo‐TORCH phenotype and discussion of related phenotypes
Author(s) -
Kulkarni Akhil Muralidhar,
Baskar Shankar,
Kulkarni Muralidhar Laxmanrao,
Kulkarni Abhishek Jayateerth,
Mahuli Amit Vasanth,
Vittalrao Suhasini,
Kulkarni Preethi Muralidar
Publication year - 2010
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.33358
Subject(s) - phenotype , medicine , fetus , pathology , calcification , differential diagnosis , presentation (obstetrics) , radiology , biology , pregnancy , genetics , gene
Fetal intracranial calcification (ICC) noted during antenatal imaging poses a diagnostic challenge. Although this presentation is most commonly associated with intrauterine infection, non‐infectious causes of fetal ICC have been reported and include metabolic, genetic, or hemodynamic conditions. We report on a patient with antenatally detected extensive ICC, in whom postnatal imaging revealed a distinctive band‐like ICC with abnormal gyral pattern and a negative serology for TORCH infections. Such a constellation of findings have been previously described under the terminology of “pseudo‐TORCH phenotype,” and we posit that our patient represents this entity. Our patient had unreported dysmorphic features, which expands the phenotypic spectrum of this recently described heterogenous condition. In addition we report on the progression of the phenotype both clinically and radiologically. In view of the limited information available for the differential diagnosis of fetal ICC, we also review the available literature on this topic. © 2010 Wiley‐Liss, Inc.