Download The Rare Health Exchange Boler- Parseghian Center for Rare and

The Rare Health Exchange
Boler- Parseghian Center for
Rare and Neglected Diseases
University of Notre Dame
PATIENT INFORMATION SHEET AND MEDICAL HISTORY
PATIENT NAME: Mr. Green
DOB: 4/14/76
GENDER:
M
DATE OF DIAGNOSIS: 1990
MUTATIONS (IF KNOWN) : NPC 1 or NPC 2
ALLERGIES:
None
FAMILY AND MEDICAL HISTORY
FAMILY HISTORY: Brother died of NPC at age 18 due to epilepticus. Mother has hypothyroidism.
RELEVANT MEDICAL HISTORY: Cardiac murmur diagnosed less than 1 yr old, disappeared. Inguinal hernia
repair 3 and 18 months. Jaundice until end of first month. Normal development. Diagnosed with NPC at age
14 due to his brother’s condition.
DATE
7/24/00
SIGNIFICANT ILLNESSES/CHRONIC
CONDITIONS
NPC
8/6/01
NPC
10/21/02
NPC
HOSPITALIZATIONS/DIAGNOSTIC
TESTS/SURGICAL PROCEDURES/LABS
Blood test; EEG; brain stem auditory
responses; audiologic assessment; speech
assessment; neuro-opthalmology evaluation;
neuropsychiatric evaluation; MRI; physical
examination
Physical examination; neurologic
examination; blood tests; neuropsychiatry;
audiology; rehab; speech and swallow;
neuroopthalmology; photo video; EEG; AVR
Physical examination; Neurological
examination; MRI; audiology study; X-rays;
blood samples; urine samples; swallowing
study; neuropsychology and
neuroopthalmology; EEG; BAER
The Rare Health Exchange
Boler- Parseghian Center for
Rare and Neglected Diseases
University of Notre Dame
8/3/03
NPC
12/15/03
NPC
7/27/04
NPC
12/14/04
NPC
Physical examination; neurological
examination; blood tests; urinalysis; CBC; MRI
(brain and abdomen); EEG; brain stem
auditory response; speech and swallowing;
ophthalmologic examination; auditory
Eye exam
MRI of liver and spleen; opthlmologic exam;
audiolody; brain stem auditory evoked
response; EEG; neuropsychiatric; speech and
swallow; eye exam; audiology assessment
Eye exam
MEDICAL PROVIDERS
PROVIDER/MD/THERAPIST
Raphael Schiffmann, M.D.
SERVICE
Auditory
assessment
ADDRESS
TELEPHONE
David F. Moore, M.D.
General Physical
Examination
Bldg. 10 Rm 3D04
301-496-3285
Haluk Topagolu, M.D.
General Physical
Examination
Bldg. 10 Rm 3D04
301-496-3285
Gustavo Charria-Ortiz,
M.D.
Auditory
assessment
Raymond T. Ferri, M.D.
General Physical
Examination
Bldg. 10 Rm 3D04
301-496-3285
Surya N. Gupta, M.D.
General Physical
Examination
Bldg. 10 Rm 3D03
301-496-1465
Margaret M. Timmons,
M.D.
General Physical
Examination
Bldg. 10 Rm 3D03
301-496-1465
FAX
The Rare Health Exchange
Boler- Parseghian Center for
Rare and Neglected Diseases
University of Notre Dame
Michelle L. McFadden,
M.D.
Auditory
assessment
Chris Zalewski, M.A.
Auditory
assessment
MEDICATIONS AND SUPPLEMENT HISTORY
MEDICATIONS
DOSE
FREQUENCY
ROUTE
ORDER DATE
Folic Acid
Primrose oil, fish oil,
vitamin E
Tinactin
Efalex
OGT-918 (Migustat)
0.5 m
Once daily
Once daily
Oral
Oral
1998
1999
Once Daily
Topical
Oral
Oral
2000
2002
2002
4 pills
D/C DATE
SUMMARY
Patient first came to the NIH in 1997 for an evaluation of his NPC. Patient was diagnosed with NPC at age
fourteen after his brother was diagnosed with the disease. In 1997, patient displayed only symptoms of
mild hearing loss. In 1998, patient displayed symptoms of memory loss, dysarthria, decreased vertical eye
movements, and lack of coordination in ambulation. He also displayed some fine motor issues and his
hearing remained mildly impaired. In 1999, patient displayed increasing severity of disease. Symptoms
included memory issues involving forgetfulness. Patient displayed slight dystonia and imbalance when
fatigued. His speech was slurred and also worsened with fatigue. He is in college two nights a week with
some assistance. At this time there were no complaints involving swallowing and no observed VSGP.
Hearing remained the same. In 2000, patient began to display VSGP and his speech became difficult to
understand. He continued to display dystonia and began to have slow finger tapping. It is reported that the
patient coughs while eating. He continues to have an independent, but awkward, gait, and attend school.
His hearing remains about the same. In 2001, there was a slight increase in swallowing, speaking, and
balance. However, there was no specific reported increase of any symptom. In 2002, patient began to
display difficulty swallowing liquids, and his speech became increasingly difficult to understand. All other
symptoms were either not mentioned or remained the same as the previous year. In 2003, it was reported
that the brain stem response was abnormal. It was also reported that there was a significant decrease in
hearing. The visit in 2004 stated a clear decline in cognition and hearing, but there were no specifics to this
decline mentioned. This is the end of the medical records currently in our possession.