CRS genetic and non-standard lab tests
Tests performed prior to the Lumbar puncture in August:

1) Karaotype FISH study performed to subtelomeric
regions of chromosome arm showed no rearragnmements.

2) Angelman analysis by Southern Blot which revealed
no evidence of 15 Q 11-13 deletion or abnormal
methylation characteristics.

3) Normal Mitochondrial mutations (using the following
mutations:
3243; 3251; 3260; 3271; 4317; 8344; 8356; 8363;
8851; 8993; 9176; 9997; 11778; 14709;14459;15923,
15990, and the 5 KB and 7.4 KB deletions.

4) The 7-dehydrocholesterol was normal.

5) Very Long Chain Fatty Acids were normal.

6) Neogen Screen TMS for organic and amino acids was
normal.

7) Uric acid normal: 4.1

8) Urine adenylosuccinate lyase was normal.

9) EEG previously revealed a 7 Hertz posterior reactive
rhythm. Very early in th eonset of drowsiness he
started to demonstrate bursts lasting 1-8 seconds
of 3 per second spike and sharp wave activity and
sometimes just isolated sharp wave activity, and
sometimes isolated spike activity with the frontal
and vertex predominance.  This is, again, akin
to that which is seen in
Angelman Syndrom.  He had
sleep spindles which were prominent on the left but
almost absent on the right.

10)Normal organic and amino acids

11)Normal
CPK of 210

12)No evidence of Fragile X

13)MRI scan revealed normal myelin and no structural
abnormalities. F/U revealed the following:  No
focal intra-axial lesion identified within the brain.
NAA: creatine ratio of 1.48 within the right cerebral
hemisphere white matter.  This is slightly lower than
two standard deviations below normal controls for our
institution (DHMC) This is suggestive of neuronal
injury but is otherwise non-specific.

14)Normal MRI of the spine

15)Normal MRI of Optic Nerve

16)Normal Optho evaluation.
CSF:
WBC:     1
RBC:     3885
VDRL:    negative
Glucose: 68
Protein: 29

CSF Quantitative Amino Acid:
            Ref Range       Results
Taurine                2.5 - 12.4       12.5
Aspartic Acid          0.4 -  5.2        2.1
Threonine             22.2 - 52.6       25.9
Serine                18.7 - 37.8       43.6
Asparagine           <17.9               4.9
Glutamic Acid        <16.8               5.0
Glutamine            284   - 680       686
Proline              < 3.8               3.0
Glycine                0.7 -  14.7      15.5
Alanine               11.5 -  48.2      28.6
Citrulline           < 6.4               1.2
a-Aminobutyrate      < 7.9               3.4
Valine                 4.5 -  37.7      21.4
Cystine              < 0.8               0.6
Methionine           < 9.3               2.8
Isoleucine             3.4 -  13.4       5.3
Leucine                4.2 -  26.8      14.9
Tyrosine               1.9 -  13.9      11.8
Phenylalanine          2.4 -  19.2       8.0
Ethanolamine           1.4 -  24.2       7.8
Ornithine              1.7 -   9.0       8.9
Lysine                15.1 -  42.9      22.7
Histidine             11.4 -  25.2      23.5
Arginine              13.1 -  35.1      23.2

Minor deviations from reference ranges.  Probably not significnt.
Neopterin Profile, CSF
In Lab
TEST                     
Result       Ref Range
Neopterin (NEOP/N)         13           7 - 65
Tetrahydrobopterin (BH4)   25           9 - 32
Interpretation: within our (DHMC) reference ranges.
Neurotransmitter Metabolites, CSF
In Lab
TEST                                
Result Ref Range
5-Hydroxylindoleacetic Acid (5HIA)   215     67-189
Homovanillic Acid (HVA)              529    167-563
3-O-Methyldopa (3-OMD)                22      0-100
Interpretation: The concentration of 5HIAA was just above our (DHMC)
reference range. This is unlikely to be of any clinical significance because
the other values are normal.  HVA and 3-OMD were within our (DHMC)
reference ranges.
5-Methytetrahydrofolate, CSF
There was no indication for Folinic Acid respsonsive seizure disroder.
In Lab
Test                               Result Ref Range
5-Methytetrahydrofolate              53     40-120
Interpretation: within our (DHMC) reference range
Acylylycine, Urine
In Lab                         Results
                  (ug/mg Cr)   Ref Range
Ethyllmalonic Acid               3.06      0.5 - 20.2
2-Methylsuccinic Acid            0.68      0.4 - 13.8
Glutaric Acid                    0.48      0.6 - 15.2
Isobutyrylglycine                0.22      0.01- 11.0
n-Butyrylglycine                 0.14      0.1 -  2.1
2-Methylbutyrylgcine             0.20      0.3 -  7.5
Isovaleryglycerine               0.76      0.3 - 14.3
n-Hexanoylglycine                0.61      0.2 -  1.9
n-Octanoylglycine                0.18      0.1 -  2.1
3-Phenylpropionylglycine         0.06      0.01 - 1.1
Suberyglycine                    0.66      0.2 - 14.7
Trans-Cinnamoylglycine           0.51      0.2 - 14.7
Dodecanedioic Acid               0.00      0.1 -  1.1
Tetradecanediotic                0.00      0.01 - 1.0
Hexadecanedioic                  0.00      0.01 - 1.0

Interpretation: Normal Acylglcine Profile
Over the past years we have done many tests covering urine, blood, spinal fluid, MRIs, EEGs, Lumbar Punctures... To date they
have all come back normal or negative.  We are still on the quest to find out why Christian has seizures and global developmental
delays.  
Due to the nature of the lab results and sheer quantity of information this page will require you to scroll left, right, up and down.