Contributed by Aaron Berg, MD and Steven Dobrowolski, PhD
The patient is a 2.5 month old female who presented with weight loss, stridor, hypertonia, and abnormal visual tracking. She was the result of a full term pregnancy with no complications and unremarkable delivery. Of note, the neurological exam at that time was normal. She regained birth weight quickly but had weight gaining difficulties starting in the second month. There were additional developmental delays such as no social smile, no object tracking, nor engaging with environment. There was back arching noted while feeding.
Family history was significant for a maternal aunt with seizure disorder and a paternal aunt with Gaucher disease type I.
Physical exam showed an increased muscle tone, no tracking, brisk reflexes, mild stridor, mild hepatomegaly, and a small submucosal cleft palate.
Initial laboratory results showed the following:
Additional testing revealed a normal blood amino acid analysis and normal urine organic acids. Karyotype was normal female (46, XX) with a normal female mircoarray analysis.
Lysosomal enzyme analysis:
Analysis of very long chain fatty acids, phytanic acid, and pristanic acid in plasma revealed that values for all species were essentially within normal limits.
Acyl-carnitines in serum or plasma were mildly elevated for C:2 and minimally elevated for C:4-OH. No other elevations of acyl-carnitine species were seen.