Table 1, online only.
Summary of Diagnostic Evaluations
| Exam Type | Exam | Result |
|---|---|---|
|
| ||
| Genetics labs | Karyotype (550 bands) | Normal male - 46,XY |
| Array CGH | Normal male–arr(1–22)x2,(XY)x1 | |
| Fragile X | Normal–32 CGG repeats | |
| Prader Willi-Angelman methylation | Normal | |
| 7q11.23 FISH for Williams syndrome | Normal | |
|
| ||
| Biochemical labs | Amino acids, plasma (2012) | Normal |
| Carnitine, plasma (2012) | Total carnitine: 80nmol/mL (nl 36–68), Free carnitine: 71nmol/mL (nl 27–49) | |
| Acylcarnitine (2012) | Normal acylcarnitine profile | |
| Pyruvate (2012) | Slightly elevated: 1.6 (nl 0.7–1.4) | |
| Lactate 2012 | Slightly elevated: 3.3 (nl 0.6–3.2) | |
| Organic acids, urine (2012) | Pattern not consistent with specific IEM | |
| Prolactin (2012) | Normal | |
| Carbohydrate def. transferrin (2013) | Normal | |
| CSF Cell count (2013) | Normal | |
| CSF Glucose (2013) | Normal | |
| CSF Protein (2013) | Low: <10 (nl 15–60 mg/dL) | |
| CSF Neurotransmitters (2013) | Slightly low homovanillic acid: 258 (nl 294-1115nmol/L) | |
| Amino acids, urine (2013) | Normal | |
| Amino acids, plasma (repeat - 2013) | Normal | |
| Creatine, plasma (2013) | High: 119.2 (nl 28–102umol/L) | |
| Guanidinoacetate, plasma (2013) | Elevated: 4.4 (nl 0.3–1.6umol/L); not in the range associated with classic guanidinoacetate methyltransferase deficiency | |
| Oligosaccharides, urine (2013) | Broad light band of material within an intermediate migration. Could be the result of medication. Pattern was observed once in a patient with glycogen storage disease but was not a consistent finding. | |
| Homocysteine (2013) | Normal | |
| Guanidinoacetate, plasma and urine (repeat 2013) | Elevated in plasma: 2.1 (nl 0.3– 1.6umol/L) | |
| Creatine, plasma and urine (2013) | Slight elevation in urine: 913 (nl 20– 900mmole/mole creatine) | |
| Acylcarnitine (2013) | Normal | |
| Carnitine (2013) | Normal | |
| Creatine kinase (2013) | Normal | |
| CSF amino acids | Normal | |
| Free T3 (2016) | Normal | |
| Reverse T3 (2016) | Slightly elevated: 24.5 (nl 8.3– 22.9ng/dL) | |
|
| ||
| Diagnostic Radiology | CT Head (9mo) | Normal |
| MRI Brain (11mo) | Partial agenesis of the anterior corpus callosum; Delayed myelination of frontal lobes for patient's age | |
| MRI Brain (22mo) | Hypoplastic rostrum of the corpus callosum; Incomplete myelination of the subcortical white matter of the bilateral frontal and temporal lobes | |
| MRI Brain (27mo) | Abnormal appearance of the white matter of the cerebral hemispheres most prominently involving the frontal lobes; Prominent perivascular spaces throughout the bilateral cerebral hemispheres; Hypoplastic genu of the corpus callosum. | |
| MR Spectroscopy (27mo) | NAA appears to be below normal for age; creatine is readily observed in all spectra; no evidence for elevated lactate | |
| FL Barium Swallow | Question of one episode of aspiration with solid Consistency (cookie) | |
| FL Upper GI exam | Normal | |
| XR Chest | Normal | |
|
| ||
| Other studies | EEGs, multiple | No epileptiform activity or focal abnormalities |
| Sleep study (36mo) | Mild obstructive sleep apnea | |
| pH probe | Confirmed GERD | |
| Echocardiogram | Normal | |