PEDIATRIC NEUROLOGY CLINIC CONSULT_____________________

Patient Name: Grace Pereira PCP: Reed Phillips, MD

Patient ID: 017990 DOB: 06/24/2007 Age: 7 Sex: F

Date of Exam: 05/05/2015

Reason for Visit: Follow-up of behavior, patient accompanied by mother, records are unavailable.

HISTORY: Grace a 7-year-old girl has a history of severe behavioral problems, ADHD, bipolar disorder, borderline mental retardation, and significant past medical history of congenital hydrocephalous associated with myelination defect on MRI. Mother records no new concerns. Mother notes some brief improvements in the patient’s impulsiveness and distractibility after starting Neurontin. However, she feels that it is no longer effective.
Serum amino acids normal. Lactate normal. Pyruvate normal. Acylcarnitine panel normal. Plasma ammonia level slightly elevated at 72 mcg/dL. FISH study for subtelomere screen negative without delusions.

IMPRESSION
1. Encephalopathy stable likely static without evidence of progression based on stable magnetic resonance scan findings.
2. Borderline mental retardation.
3. Attention deficit hyperactivity disorder, ADHD.
4. Bipolar disorder.

(Continued)

PEDIATRIC NEUROLOGY CLINIC CONSULT

Patient Name: Grace Pereira
Patient ID: 017990
Date of Exam: 05/05/2015
Page 3

5. Abnormal white matter on magnetic resonance scan suggestive of stable demyelinating process or leukodystrophy or mitochondrial pseudopathology.

DISCUSSION: Discussed risks and benefits with mother, in depth, regarding treatment options. Mother hesitant to start stimulant therapy for ADHD, at this time, elects to increase dose of Neurontin for mood stabilization. White matter abnormalities of the CNS on MRI of unclear ideology will pursue further laboratory testing.

PLAN
1. Recommend ophthalmology follow-up as well as audiology screening at least yearly.
2. Obtain Wenger panel from Miami University for leukocyte lysosomal enzyme screening.
3. Obtain mitochondrial panel from Dade laboratory.
4. Obtain chromosomal microarray screening.
5. Obtain FISH screening for 22q11 velocardiofacial syndrome defect.
6. Screen arylsulfatase for metachromatic leukodystrophy.
7.