1 / 40

Maple Syrup Urine Disorder (MSUD)

Maple Syrup Urine Disorder (MSUD). UPCM Class 2011 Block 9b Tampo , Tanyu , Tiongson , Torio. This is a case of A.M., a 1 month-old baby boy from Bataan, admitted for the first time in PGH last August 16, 2009

ayla
Download Presentation

Maple Syrup Urine Disorder (MSUD)

An Image/Link below is provided (as is) to download presentation Download Policy: Content on the Website is provided to you AS IS for your information and personal use and may not be sold / licensed / shared on other websites without getting consent from its author. Content is provided to you AS IS for your information and personal use only. Download presentation by click this link. While downloading, if for some reason you are not able to download a presentation, the publisher may have deleted the file from their server. During download, if you can't get a presentation, the file might be deleted by the publisher.

E N D

Presentation Transcript

  1. Maple Syrup Urine Disorder (MSUD) UPCM Class 2011 Block 9b Tampo, Tanyu, Tiongson, Torio

  2. This is a case of A.M., a 1 month-old baby boy from Bataan, admitted for the first time in PGH last August 16, 2009 With a chief complaint of poor suck

  3. Clinical history

  4. Birth and Maternal History • Born full term to a 24 yo G2P1 (1001) mother, • via NSVD at a local hospital in Bataan • Was said to have good activity and good cry • Claimed to have 3 PNCU at a health center • Denied comorbid conditions except UTI-8mos • Treated with Cefalexin x 7 days • Only 1 UTZ done, result was unrecalled

  5. History of Present Illness • Apparently well until 1st week of life • Noted to have no eye opening and was said to have stiffening of the upper and lower ex • Consult at local hospital  admitted x 7 days • Septic work-up was done, treated and discharged with a diagnosis of neonatal sepsis

  6. Patient was well until 1 week PTA • Noted to have decreased milk intake with poor sucking reflex and an episode of apparent apnea • Consult done and noted bulging fontanelle, admitted at a different hospital for 7 days • Antibiotics (amikacin, gentamycin) was given

  7. Cranial CT was done revealing a demyelinating disorder • Lumbar tap done, results unrecalled. • Was referred to PGH

  8. Family History • (+) DM: maternal side, grandmother • (-) HPN, (-)BA, (-)PTB, (-) goiter, (-) cancer • (-) heart, liver, lung diseases • (-) similar conditions in the family

  9. Immunization / Nutritional • No vaccines received yet • Purely breastfed while the baby is well

  10. Summary

  11. PHYSICAL EXAMINATION

  12. Sytemic PE • Normocephalic, open ant/posterior fontanelle, no bulging fontanelle • Warm skin, slightly pale, (-) rashes, CRT <2secs, good turgor • Non bulging eyes, still unable to open eyes, slightly swelled lids • (-) ear discharge, supple neck • ECE, (-) retractions, CBS] • AP, RR, (-) murmur • Globular, NABS, soft, (-) organomegaly, liver edge palpable 1 fingerbreadth below costal margin • (-) phimosis, descended testis (bilateral) • Grossly normal extremities

  13. Neurologic Exam • Asleep, cries to painful stimuli but no eye opening • (-) neck rigidity, (+) babinski • CN: no facial assymetry • Motor: moves all extremity spontaneously • Sensory: withdraws to pain • DTR: 2+ uppers and lowers • Reflex: (+) grasp, moro, rooting

  14. COURSE IN THE HOSPITAL

  15. Day 1 (8/16/09) • Patient was admitted at Pedia ER on August 16, 2009 • S/O> • 2.4 kg, febrile, (+) sweet odor of urine, • (+) 2 ketones in urine • A> • neonatal sepsis, hospital acquired • t/c inborn error of metabolism (MSUD) • P> • NPO, IVF (FM) 240cc/hr, O2 support done • Dx: • CBC, BT, electrolytes, Blood CS, CXR PAL, UA with ketones • Tx: • meropenem (120) 96 mg IV q8 • Amikacin (15) 40 mg IV OD

  16. Day 2 (8/17/09) • Seen by Neuro due to seizures • A> • Hospital acquired sepsis • t/c IEM (MSUD) • P> • Continue meds • IVF • 1) D12.5IMB • 2) start intralipid 20% solution (2g/kg/day) • Seen by Genetics • Leucine level 4300, facilitate PD • Referrals • PediaSurg: for Catheter insertion for PD • Renal: for Catheter insertion

  17. Day 2 (8/17/09) • Admitted at Ward 9 Bed 9 • TFI 175 [1] D12.5IMB (FM) , [2] intralipid (1) • For FFP transfusion • Plt 14.8 • PT 12.2 / 22.0 / 0.40 / 2.10 • PTT 34.6 / 72.3 • t/s vitamin K

  18. Day 3 (8/18/09) • s/p Tenckhoff Catheter insertion, Right EJ cutdown • Tx: meropenem, amikacin, vit K • IVF: D12.5IMB, intralipid via face mask • O2 support via via face mask

  19. PROBLEM LIST

  20. Fluids • S/O> patient on OGT, probable acute phase of MSUD • A> maintain appropriate hydration and caloric intake • P> continue IVF • 1] D12.5IMB • 2] intralipid

  21. Others • S/O> still unable to spontaneously open eyes, slight swelling or upper lids, (-) discharge, (-) redness • A> swollen lids • P> referral to Ophthalmology

  22. Respiratory • S/O> s/p catheter insertion • A> supportive oxygen administration • P> • continue O2 support via face mask • To watch out for respiratory distress

  23. Infection • S/O> blood culture (+) Enterobacter • A> Hospital Acquired sepsis • P> continue meds • Meropenem • Amikacin

  24. Cardiac • S/O> AP, regular rhythm, HR 102, (-) murmurs • A> no cardiac disorder at the moment • P> none for now

  25. Hematologic • S/O> • Plt 14.8 • PT 12.2 / 22.0 / 0.40 / 2.10 • PTT 34.6 / 72.3 • A> thrombocytopenia • P> • Continue vit K • Repeat CBC, PT/PTT

  26. Metabolic • S/O> (+) sweet urine odor, (+) urine ketones • A> t/c MSUD • P> continue PD

  27. Neurologic • S/O> (+) episodes of seizure-like activity • A> seizure prob 2 to MSUD,or hypoglycemia • P> • standby diazepam at bedside • Monitor Hgt

  28. Developmental • S/O> (+) MSUD • A> mental and neurologic deficits are common sequelae • P> • regular follow-up at a Pediatric clinic • Watch out for infection

  29. MAPLE SYRUP URINE DISEASE

  30. Branched Chain Amino Acids Isoleucine Valine Leucine

  31. Catabolism • Transamination • Oxidative Decarboxylation* • Dehydrogenation • End products * Enzyme responsible: Branched-chain α-ketoaciddehydrogenase

  32. Branched-chain α-ketoaciddehydrogenase • A complex enzyme system using tyrosine pyrophosphate (Vit B1) as coenzyme • A mitochondrial enzyme consisting of four subunits E1α,E1β, E2,E3 • Deficiency of this ensyme causes Maple Syrup Urine Disease (MSUD)

  33. MSUD • Named after sweet odor of maple syrup found in body fluids, esp. urine • 5 phenotypes have been identified based on clinical findings and response to thiamine • 1. Classic MSUD • 2. Intermittent MSUD • 3. Mild (Intermediate) MSUD • 4. Thiamine-responsive MSUD • 5. MSUD due to deficiency in E3 subunit

  34. Classic MSUD • Clinical: • 1st week: poor feeding and vomiting  lethargy coma • Convulsions occur in most infants • Labs: metabolic acidosis

  35. Classic MSUD • Diagnosis: • Definitive: Amino acid analysis shows ↑ leucine, isoleucine, valine • Peculiar odor of maple syrup in urine, sweat, and cerumen • Urine: (+) amino acids and their respective ketoacids • Qualitative test: • Add 2,4-dinitrophenylhydrazine reagent (0.1% in 0.1 N HCl) to urine • Formation of a yellow precipitate (2,4-dihydrophenylhydrazone) yields a positive test • Hypomyelination may be seen in neuroimaging

  36. Classic MSUD • Treatment: • In acute phase: • Adequate hydration • Quick removal of metabolites via Peritoneal Dialysis • Response: significant ↓plasma levels w/n 24 hrs • May develop cerebral edema, treated with mannitol • After acute phase: • Diet low on branched chain amino acids • Remain on diet for the rest of their lives • Liver transplant shows promising results

  37. Classic MSUD • Prognosis: • Prognosis remains guarded • May develop the following in stressful conditions (infection/surgery) • Severe ketoacidosis, cerebral edema, death • Mental and neurologic deficits are common sequelae

  38. Genetics of MSUD • Autosomal recessive • Prevalence of 1 / 185,000 • Classic form is more prevalent

  39. LABORATORIES

  40. CBC • Hgb: 99 • Hct: 0.282 • WBC: 3.99 • Segmenters: 0.46 • Monocytes: 0.15 • Eosinophils: 0.003 • Lypmhocytes: 0.003 • Basophils: 0.374 • Plt: 14.8

More Related