Dr.Rithwik Sunil, Dr. Sajith Kesavan(Intensivistand Paed pulmonologist,, Dr. Greeshma Issac(Intensivist), Dr. C Jayakumar
AIMS KOCHI
Fifteen year old male child , developmentally normal, immunized presented with hematuria of 3 days duration . Child had gone for a trek following which he had severe pain and blood in the urine. Child also had complaints of lower limb pain.
No other symptoms pointing to other system
Past History:
History of similar episodes 1 month back (unevaluated)
Family history: Elder sibling (25yr old) had similar complaint’s in the past and had undergone dialysis
Auxology revealed normal growth parameters.
On examination, child was sick with fever of 101F with other vitals stable.
Systemic examination was within normal limits.
Differential Diagnosis
Urinary tract infection
Glomrulonephritis(?RPGN)
Autoimmune condition (?SLE)
Renal calculi
Metabolic disorders (Acute rhabdomyolysis)
Malignancy of kidney, ureter or bladder
Inherited disorders(? Alport, ?Fabry)
Investigations:
CBC: TC:8.79ku/ml, N:67%, L:20%
ESR:7mm/hr ,CRP:18mg/L
CPK:169300U/L, Urine myoglobin :positive
Urea :18mg/dl, Creatinine0.61mg/dl
Na: 134.9meq/L, K:4mEq/L
Coagulation markers: Normal
Routine Urine examination: Normal
ECG: normal
Bedside USG Abdomen : Grade 1 fatty liver
Treatment:
Child was treated as a case of acute rhabdomyolysis
Child was monitored in PICU and started on oral/IV fluids rehydration.
Serial monitoring of CPK levels and RFT was done and decreasing trend was noted following treatment(79186U/L->11105U/L–>4030U/L–>2292U/L).Child was discharged once biochemical markers were stabilized.
Last CPK on follow up wax165 only
Considering family history and repeated episodes, sample was sent for WES
WES showed homozygous mutation in ACADVL gene suggestive of VLCAD deficiency
Child is currently under follow up .He has been advised to avoid fasting and over exertion, to avoid red meat and to consume meals rich in carbohydrates
Parents also following same advises in regard to elder brother.
Discussion
VLCAD deficiency
Very-long-chain acyl-CoA dehydrogenase (VLCAD ) deficiency is the second most commonly diagnosed disorder of fatty acid oxidation
Patients with VLCAD deficiency have no ability to oxidize physiologic long-chain fatty acids and are usually more severely affected than those with MCAD deficiency, who have a milder oxidative defect.
CLINICAL FEATURES: Dilated cardiomyopathy, arrhythmias, hypoglycemia, and hepatic steatosis. Late- onset, stress-induced rhabdomyolysis, episodic myopathy.
VLCAD deficiency presents earlier in infancy and has more chronic problems with muscle weakness or episodes of muscle pain and rhabdomyolysis
Diagnosis : mutational analysis of the VLCAD gene.Prenatal and newborn screening diagnosis possible.
Treatment is based primarily on avoidance of fasts for >10-12 hr. Continuous intragastric feeding is useful in some patients.
Trigger of rhabdomyolysis: fasting , infections, fever, prolonger exercise
Take home message
Reaching a proper diagnosis and adhering to life style modification is the best way to control the disease