Dr.shobika,Dr.Vinayan,Dr.Vyshak(Paed neuro),Dr.C Jayakumar,Dr.Praveena AIMS,KOCHI
Four month old male child presented with complaints of high grade intermittent fever,h/o multiple episodes of non projectile non bilious vomiting of 3 days
On day 4 of illness,the child had refusal of feed and poor sucking,the child was admitted in near hospital
During the hospital stay he had paroxysmal events semiology being jerking of limbs and uprolling of eyeballs was managed with parenteral levetiracetam.
As persistent jerking of limbs and altered sensorium was persisting he was referred to AIMS for further management.
At admission,he had severe alteration of sensorium hypocalcemia (7.21mg/dl),hypomagnesium(1.4mg/dl),metabolic acidosis(Ph-7.358,Pco2-21.9,Hco3-12).Acidosis and electrolyte abnormalities were corrected.
O/E:Cranial nerves -normal,bulk-normal,Tone-hypotonia,power-3/5 in all limbs
Labs-CRP-8.94mg/l,TLC-6.69ku/ml,N/L-59.6/L34.7,
Na-144.2,K-2.8mEq/l,P-6.3mg/dl,Ca-9.72mg/dl,vitamin B12-2000pg/ml,serum homocysteine-2.70umol/L,Ammonia-57.6umol/L,URE-normal.
EEG done here showed mild degree of generalized non specific disturbancesof electrical function.
MRI Brain showed diffusion restriction in bilateral globi pallidi consistent with organic acidemia.
CSF was done to rule out Infection,only lactate was high(2.1)
USG abdomen done showed hepatomegaly.
Tandem mass spectrometry (TMS)and Gas chromatography mass spectrometry (GCMS) sent suggestive of methyl melanic acidemia.
He was kept NPO for 2 days,
Mitochondrial cocktail was started
Tab.Thiamine (100mg) twice daily,
CoQ (30mg)oncedaily,
Syp.carnisure(500mg/5ml)TID,T.
Pyridoxine(100mg)twice daily,
T.biotin(10mg)twice daily,
Riboflavin(10mg) TID,
Vit b12(500mg)twice daily
was started,afterwhich sensorium improved.
He was started on low protein diet at 0.5gm/kg/day.
Dietary consultation was taken,he was given alternate feeds of Cereal powder and metanutrition(AAMD- amino acid metabolism disorder),and the child is adviced on regular follow up.
METHYL MALONIC ACIDEMIA/METHYL MALONIC ACIDURIA:
Is a group of inherited disorders that prevent the body from breaking down proteins and fats properly.
Occurs- Early infancy
Symptoms-Vomiting,Dehydration,hypotonia,lethargy,hepatomegaly, failure to thrive,hyperammonemia,hypoglycemia,metabolic acidosis,respiratory distress.
Differentials considered:
Vitamin B12 deficiency,
Mitochrondrial DNA depletion syndrome.
Labs:Glucose- hypoglycemia,metabolic panel-acidosis,liver enzymes,lipase and amylase-pancreatitis,CBC- cytopenias,Ammonia,urine analysis-ketones.
Complications-feeding problems,chronic Kidney disease,pancreatic insufficiency
Treatment- Dietary modifications,Cobalamin,L carnitine supplements and a low protein diet.