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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.