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Washington University Experience | DEVELOPMENTAL MALFORMATIONS | Hydromyelia | 1A0 Case 1 History
Case 1 History The patient was a 22 month old girl with a history of mosaic trisomy 13q, chronic otitis media, chronic rhinitis, developmental delay, hearing loss, hypotonia, microcephaly, blindness, syrinx, tethered spinal cord, microphthalmia, grey matter heterotopia, and Chiari 1 malformation. There is no history of prior seizures. The patient was born to a 30 year-old G2 P2 mother and 34-year-old father. Pregnancy was complicated by hypertension, preeclampsia, prenatal diagnosis of fetal microcephaly, Chiari I malformation, microphthalmia and syrinx. Postnatal CMA revealed mosaic partial trisomy 13q which was not detected prenatally. There is no known family history of seizures, early childhood death, frequent miscarriages, or developmental delay.
