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Washington University Experience | PERIPHERAL NEUROPATHY | 1 NORMAL NERVE ANATOMY | 6 Infant Peripheral Nerve | 3A0 Case 3 History
Case 3 History (0wk effective age) ---- The patient was a 4-week-old female infant, who was born at 36-and-4/7-week estimated gestational age to a 35-year-old mother with a history of stage I melanoma and hypothyroidism. The delivery was via spontaneous vaginal birth at an OSH on September 10 with Apgar scores 8 and 8 at 1 and 5 minutes. The pregnancy was significant for preterm labor, known fetal cleft lip and palate demonstrated on prenatal ultrasound with maternal hypothyroidism. At birth, she had increased respiratory effort that required initial CPAP for increased work of breathing. Initial blood glucose was 20. Due to concerns for bilateral cleft lip and palate and hypoglycemia, she was transferred to the NICU at SLCH. On September 11 screening head and abdominal ultrasounds, and chest and abdominal x-rays were unremarkable. On September 12, although the hypoglycemia and respiratory distress were improving, she developed hyperbilirubinemia (bilirubin = 14.1), requiring phototherapy due to polycythemia. By September 16 the patient’s respiratory distress had resolved. A screening echocardiogram showed a structurally normal heart. Brain MRI was unremarkable. A CMAN karyotype was sent September 20 which returned positive for trisomy 13. On September 30 she had bloody stool, likely from perianal excoriation, bradycardia and desaturation episodes. She experienced increasing episodes of apnea and bradycardia which required significant intervention. Some episodes were noted to be central in origin and others were obstructive. On the morning of her death, she was noted to have significant more severe and frequent episodes which required positive pressure ventilation and prolonged bagging. At that time, the parents declined further intervention, opted to redirect her care and she expired on October 6, approximately one month after birth. The sural nerve was biopsied.
