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2017 Case 9

Case 9

A.F. Gao1, D. Chitayat2, L.N. Hazrati1

1Department of Pediatric Laboratory Medicine and 2Division of Clinical and Metabolic Genetics, Hospital for Sick Children, Toronto, ON, Canada

Case History:

A term infant girl was born to a healthy 32-year-old G1P0 woman following an uncomplicated pregnancy. There was no relevant family history or consanguinity. After birth, the infant was admitted to the neonatal intensive care unit for seizures (myoclonus and clonic seizures), hypertonia (rigidity), and poor feeding. Seizure activity was resistant to multiple anti-seizure medications. Recurrent episodes of apnea required intubation and ventilation. MRI of the brain showed microcephaly and prominence of the frontoparietal peri-cerebral CSF spaces.

Additional investigations revealed changes consistent with aspiration pneumonia. Bloodwork showed normal quantitative amino acids, acylcarnitines, carnitines, lactate, and liver enzymes.

The infant’s clinical condition continued to deteriorate and she expired at 2 months of age. The general autopsy showed normal growth parameters and hypertelorism. There was microcephaly, with head circumference <3rd percentile and brain weight was 350 g (expected 578 +/- 65 g).

Materials submitted: One representative H&E/LFB stained section, scanned

Questions: Diagnosis?

Genetic abnormality?