| Summary: | A late preterm female neonate, born to a consanguineously married couple by normal vaginal delivery and unremarkable family history, was admitted to our NICU soon after birth for management of respiratory distress secondary to meconium aspiration syndrome and persistent pulmonary hypertension of newborn. She required intensive ventilatory and hemodynamic support and was encephalopathic since birth but did not fulfill the criteria for therapeutic hypothermia. Extensive metabolic workup revealed no diagnosis, but neuroimaging showed characteristic findings consistent with the diagnosis of leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation. This was supported by the result of whole exome sequence that identified a novel homozygous mutation, c.1191 + 11A>C, for DARS2 gene confirming the diagnosis.
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