Alycia Shilton-Lloyd

Case Overview — by Administrator — last modified Feb 07, 2010 10:38 PM

DL Motor skill delay (fine and gross) Array CGH NEGATIVE. No copy number variations of clinical significance were found using Agilent 44K whole genome microarray Slightly small stature vs. familial norm. Significant tooth decay, 5 cavities just filled at 33 months Family Neurologist thinks possible ataxic CP MRI and EEG at 14 months normal. White Blood Cell Differential, CBC, Fatty Acids Profile, Amino Acid Screen (Multiple) and Organic Acid Screen Urine, Blood Urea Nitrogen (Serum) and Creatinin, Serum, with GFR NORMAL at 37 months. Vitamin B12 >1000 Folage >24.0 at 37 months. TSH and Carbohydrate Deficient Transferrin Normal at 42 months. Pyruvate (1.63) and Lactate Ser/Plas (3.9) high BUT Dylan fought a great deal during the blood draw. Biopsy shows moderate abnormalities: Type 2 fiber atrophy, no re- or degenerative change. (Congenital type 2 fiber atrophy) but neurologist does not feel explains the entirety of his symptoms.

Case Overview — by Alycia Shilton-Lloyd — last modified Oct 18, 2007 06:15 AM

Includes relevant history up to 22 months. Does not include actual lab results.

profile_21_month — by Alycia Shilton-Lloyd — last modified Oct 18, 2007 02:30 AM

DL profile at 21 months, showing convex nose and eyelash length

Eye_21_month — by Alycia Shilton-Lloyd — last modified Oct 10, 2007 05:38 PM

Close up of the right eye, showing ring around iris, at 21 months

Eye 5 month — by Alycia Shilton-Lloyd — last modified Oct 10, 2007 05:39 PM

Close up of left eye at five months, showing ring around iris