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Patient is Richard Alidon , 40/M from Samar Chief complaint: easy fatigability

Patient is Richard Alidon , 40/M from Samar Chief complaint: easy fatigability. History of Present Illness.

robert-butler
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Patient is Richard Alidon , 40/M from Samar Chief complaint: easy fatigability

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  1. Patient is Richard Alidon, 40/M from Samar • Chief complaint: easy fatigability

  2. History of Present Illness • Patient was apparently normal until 2 y/o when his mother noted muscle weakness. During childhood, he had difficulty walking independently and was noted to frequently fall. Px noted muscle fatigue after walking ~10 meters. As a child, he also had difficulty in running, jumping, walking and playing. Muscle pain is usually noted on the shoulders and back. He thought this was all normal until…

  3. History of Present Illness • At 5 y/o, px’s father demonstrated how he walked. He described it as robot like both in gait and physique. Px and mother consulted various MDs during this time with no definitive management and diagnosis. • At 10 y/o, Px was seen by PGH endo but was lost to follow-up because of financial constraints.

  4. History of Present Illness • 14 yrs PTC: consult at Antipolo because of persistence of easy fatigability. Px is usually able to walk only 5 meters at a time. A> Downs syndrome. Px referred to PGH neuro. X ray was donepulmonary emphysema and dextroscoliosis. Again lost to follow up.

  5. History of Present Illness • 9 years PTC: Px sought check up still with the same chief complaint. Px seen by both pulmo and neuro and was given unrecalled muscle relaxants. This caused stiffening o the muscles and was stopped after 3 days of administration. Lost to follow up.

  6. History of Present Illness • 1 yr PTC: Px consulted at PGH-surgery for painless bleeding/rectum. Referred to IM for colonoscopy. Referred to Rheuma, A> Juvenile Rheumatoid Arthritis. Px was for surgery during that time but was deferred due to possible problems with anethesia. • 4 mon PTC: Px seen by rehab. EMG-NCV done, for psych and PT referral during that time.Px was eventually admitted for rehabilitation and therapy.

  7. Past Medical History • (-) previous hospitalizations and surgery • (+) allergy to coffee and unrecalled muscle relaxant • (+) s/p colonoscopy • (-) DM, BA, HPN, heart, liver, kidney disease

  8. Family Medical History • (-) history of same illness in the family • (+) BA, schizophrenia, leukemia, heart disease • (-) DM, HPN, liver, kidney disease

  9. Personal and Social History • 1st year college undergraduate • Masters in theology graduate • Non smoker, non alcoholic beverage drinker • Denies illicit drug use • Enjoys board games, • Has frequent bible study with colleagues

  10. Occupational and Functional History • Previously worked as a theology teacher • Currently unemployed • Able to do ADLs (cooking, bathing and grooming) • Difficulty in ambulation (5 m then rest then 5 m) • No mobility device • Lives in a 1 storey house with a friend. • Sleeping area-CR distance <5 m

  11. ADL

  12. Physical Examination • General Survey: awake, alert , NICRD • Vital Signs: BP: 120/90 HR: 80 RR: 20 • HEENT:Pinkconjunctivae, anictericsclerae, (-) CLAD, (-) NVE, • Chest/Lungs: Well developedback and chest, equal chest expansion, (-)retractions, clear breath sounds (-) wheezes, (-) crackles; • CVS: Adynamicprecordium, DHS, NRRR, PMI at 5th ICS MCL, (-) thrills, (-) heaves, (-) murmurs • Abdomen: flat well defined abdomen, NABS, soft, non-tender, liver edge non-palpable, traube’s space intact, (-) masses, (-) tenderness • Skin / Extremities: Pink nail beds, full and equal pulses (-) edema, (-) cyanosis

  13. Physical Examination • MMT: deferred; sensory: 100% for all extremities; DTRs: +2 R, +1 L UE, +2 R and L LE (difficult to assess); (-) babinski, clonus; orientated to time, space and person

  14. Range of Motion

  15. Range of Motion Range of Motion

  16. Laboratories • CBC (5/10) WBC 5.75/ hgb 128/hct 0.414/ Plt 117/ lym 0.62/ neut 0.29 (6/1) WBC 4.23/ hgb 127/hct 0.43/ Plt 206/ lym 0.33/ neut 0.57 • Blood chem 2/19 Ca 2.4/Mg 0.72/Na 142/K 5.1/ Cl 107 3/6 CPK 852.15/ CK MB 100.41/CPK MM 752.26 5/11 Na 141/ K 3.9/ Crea 61 5/14 Bun 5.31/ Crea 61 5/18 Glu 4.39/ ALT 66 5/21 Na 140/ K 4.4/ Cl 99 5/22 TSH 1.5/ T4 22.6 6/1 ALT 83

  17. Course in the Wards • 5/10: Px admitted at W5. For repetitive nerve stimulation, PFT and 12-L ECG • 5/11: seen by Immuno. For Food, immunoallergenand sputum AFB. Later deferred because of the misinformation regarding the px’s ADRs. • 5/14: px evaluated by ophtha. A> EOR, presbyopia for his blurring of vision. • 5/20: seen by endo. Reason for referral was: to assess other endocrinologic disorders in a patient with myotoniacongenita. • 5/ 25: Spirometry done: restrictive airway disease. Carbamazipine was initiated as therapeutic agent. • 5/26: Px seen by nephro because of persistent + water balance. A> bilateral renal hypoplasia probably congenital. Chronic restrictive lung disease, t/c multiple ADRs. • 6/1: CBZ stopped due to elevated liver enzymes. Started on anti-toxic liver therapy + vit B complex • 6/2: Seen again by pulmo. Re evaluated the px, A> secondary restrictive ventilatory pattern, not restrictive airway disease. Severe dextroscoliosis. Advised to have genetic studies. Baseline ABG requested • 6/3: baseline ABG: uncompensated respiratory acidosis.

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