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Pompe ’ s Disease

Pompe ’ s Disease. PGY 尤善琦 Clerk 林敬為. Case report. Name: 林 XX Age:1 y/o 6 m/o Sex:male Admission date:93/10/15 Chief complaint:progressive vomiting for 10 days. Past history(I). Birth Hx:G3P1AA2, C/S, BBW:3175gm, GA:39+4 wks, DOIC(-), PROM(-), perinatal insult(-)

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Pompe ’ s Disease

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  1. Pompe’s Disease PGY 尤善琦 Clerk 林敬為

  2. Case report • Name:林XX • Age:1 y/o 6 m/o • Sex:male • Admission date:93/10/15 • Chief complaint:progressive vomiting for 10 days

  3. Past history(I) • Birth Hx:G3P1AA2, C/S, BBW:3175gm, GA:39+4 wks, DOIC(-), PROM(-), perinatal insult(-) • Growth and development: • DMS:general hypotonia • Roll over (+/-), sit without support (-)

  4. Past history(II) • Past history: • 3 admissions due to pneumonia in 門諾,慈濟 • 92/8/9~92/10/3:NTUH for pompe’s disease • 29 courses of enzyme replacement therapy between 92/9/25~93/10/11 • Jejunostomy on 93/3/10 • Repeated aspiration pneumonia and UGI bleeding during the period of ERT

  5. Past history(III) • Maternal history: • No drug/radiation exposure during pregnancy • Denied systemic disease • Family history:denied history of hereditary disease

  6. Present illness(I) • Decrease muscle tone was noted at 2 m/o • Scarf sign(+), heel to ear sign(-), DTR: all limb++, muscular dystrophy • Brain echo, MRI, EKG: no specific finding • GOT/GPT:278/163, CK:893 • Muscle biopsy:PAS positive • 92/8/19, confirm pompe’s dz at NTUH • ERT 29 course during 92/10/3~93/10/11

  7. Present illness(II) • N/V with diarrhea for 10 days after the jejunostomy tube was changed • Shortness of breath and irritability was noted • Admission under the impression of AGE

  8. Physical examination(I) • Consciousness:clear • HEENT:grossly normal,conjunctiva: not pale, sclera: anicteric, pupil:isocoric, light reflex:+/+, eardrum:not injected, thorat:not injected, macroglossia • Neck:supple, JVE(-), LAP(-) • Chest:symmetric expansion, subcostal retraction(+), BS:coarse rhonchi

  9. Physical examination(II) • Heart:RHB, hyperdynamic heart, Gr. II/IV systolic murmur over LSB • Abdomen:soft, tenderness(-), rebound pain(-), normoactive bowel sound, liver: 2 fb below RCM, jejunostomy • Extremites:flaccid, edema(-), cyanosis(-), petechiae(-), DTR(-)

  10. Preoperative condition • Respiratory failure under biPAP • TPN to support nutrition • 10/18 consult pediatric surgeon for fundoplication and pyloroplasty due to recurrent aspiration and mild GER • 10/22 operation performed

  11. Anesthesia record • Propofol, ketamine, Nimbex, SCC • O2, air with sevoflurane • Intubation:smoothly

  12. Pompe’s disease • Glycogen storage disease type II acid maltase deficiency • Deficiency of acid α-glucosidase (GAA) • Lysosomal glycogen accumulation in cardiac, skeletal, smooth muscle cells, liver, and CNS

  13. Subset and incidence • Infantile-onset:< 1 y/o Late-onset:> 1 y/o, juvenile-onset and adult-onset • Combined incidence of all forms:1:40000 • Infantile-onset prominent in Taiwan

  14. Clinical presentation(I) • Gene locus on chromosome 17q25 autosomal recessive • Age of onset, organ involvement, rate of progression—determined by residual GAA activity and environmental influences • Residual GAA activity: infantile-onset:<1% late-onset:children and juveniles:1~10% adults:2~40%

  15. Clinical presentation(II) • Floppy baby appearance, head lag, axial hypotonia, laxity of facial muscles • Moderate hepatomegaly (82% of p’ts) • Macroglossia (62% of p’ts) • Feeding difficulties and poor weight gain • Delayed motor milestones

  16. Clinical presentation(III) • Cardiomegaly and cardiomyopathy (95%) • Thickening of the walls of both ventricles and interventricular septum • Hypertrophic cardiomyopathydilated cardiomyopathy • Obstruction of the left ventricular outflow tract

  17. Clinical presentation(IV) • Myopathy • Rapidly progressive muscle weakness (96%) in the trunk, lower limbs, and diaphragm • Respiratory failure • Respiratory distress or insufficiency with increased work of breathing • Frequent respiratory infections and aspiration • Left lower lobe collapse

  18. Diagnosis(I) • Blood chemistry • CK elevation (as high as 2000 UI/L) • Aspartate aminotransferase, alanine aminotransferase, lactate dehydrogenase • EMG • Myopathic pattern • Pseudomyotonic discharges, fibrillation potenials, positive sharp waves, and excess electrical irritability

  19. Diagnosis(II) • Chest imaging studies • Massive cardiomegaly • EKG • Shorten of PR interval • Broad QRS complexes • Acid α-glucosidase assay • Muscle or skin biopsy

  20. Disease management(I) • Respiratory support: • Mechanical ventilation • Frequent oral or deep nasal suction • Treatment of cardiomyopathy • Beta blockers for outflow tract obstruction • Dietary therapy • Early initiation of tube feeding • Physical therapy

  21. Disease management(II) • Enzyme replacement therapy • Clinical trials phase II • Decrease cardiomegaly • Improve cardiac and skeletal muscle function • Prolong survival

  22. Compared with this patient • Muscle tone ↓ at 2 m/o  infantile-onset • General hypotonia, delayed motor milestone, hepatomegaly, macroglossia • CK level↑(893) • Hypertrophic cardiomyopathy • Repeated aspiration pneumonia, subcostal muscle retractionrespiratory muscle weakness

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