Dr Mehak Bashin,
DrVinayan Dr Vyshsk(AIMS Neuro)
Dr C Jayakumar
Twelve year old female child with age appropriate milestones, immunised for age developed low grade intermittenr fever of 2 day duration followed generalised tiredness and myalgia.
Mother noticed at that time the child was taking longer than usual to complete daily activities like taking a bath.
After 10 days of onset of fever, she was able to walk for 5 minutes but would have to take rest, sit down and walk again.
She could not run and there is a history of school absence also during this period.
Child was eventually not able to bear weight on her legs or stand without support over the course of these 10 days.
Blood investigations done showed mildly elevated SGOT. Weakness progressed to upper limbs also
There was also history of decreased volume of speech.
Investigations done in the referral hospital showed
CPK 18000 AST 4000 ALT 1000.
Dengue serology, Hepatitis A, B, E, C serology were negative
Ferritin normal
Urine myoglobulin negative
Mantoux, Weil Felix, Scrub Typhus negative
Cold agglutinin, gamma interferon testing normal
Serum B12, Folate, Uric Acid normal
DCT negative
Coagulation profile normal
By Day 14 of illness, her clinical picture worsened. Lower limb weakness is now noted with absent DTRs in the hospital.
NCV done- absent F waves from bilateral ulnar and left median nerve, bilateral peroneal nerves. Lower limb sensory conduction with prolonged peak latency and decreased conduction velocity from bilateral sural nerves.
Bed side echo- mild LV dysfunction
Child was noted to have episodes of multiple episodes of desaturation in the hospital.
She was electively intubated and started on treatment witg IVIG at a dose of400mg/kg for 5 days
MRI Brain- bilateral T2 ans flair hyperintensities in periventricular deep and subcortical white matter of frontal and parietal lobes with diffusion restriction.
MRI Spine- normal
CSF analysis- elevated lactates
MES Panel- negative
There was an episode of unexplained hypotension after intunation and was managed with fluid bolus, adrenaline and albumin infusion.
By Day 16 of illness, she also developed new onset severe abdominal pain.
USG – bulky head of pancreas
Labs- elevated lipase
ECHO- normal.
LKM Antibody IFA- normal
Anti smooth muscle Ab/anti-microbial Ab and ANA-IFA- negative
Free carnitine levels- decreased
Background
Antenatal- uneventful
Natal- Term/Emergency LSCS (Fetal distress)/BW 2.430/CIAB
Post natally- Uneventful
Developmentally-
Isolated gross motor milestones delayed till 15 months.
Sits with support- 1 year old
Sit without support 15 months
She caught up with the rest of milestones 2 years old
Family History-
Type 2 DBM in father
Status post Renal Transplant in 2016 secondary to diabetic nephropathy
History of CAD and Pulmonary TB in 2020. ATT taken for 9 months.
Myelodysplastic syndrome.
History of PVD and BKA (below knee amputation)
Child was brought here on the 17th day if illness while intubated and on mechanical ventilation.
Alert and responding to commands E4VTM6
Vitally stable
Auxology- Grade 1 underweight. BMI less than 3rd centile
Systemic examination revealed generalised thinning with hypotinia reduced power proximal>distal muscles.
DTRs absent in lower limbs. 1+ in upper limbs.
Severe epigastric tenderness with mild hepatomegaly and liver 3cm below the RCM.
VEEG normal
Dengue IgG positive
ECHO normal
Antimyositis ab negative
MRI bilateral thigh- muscle edema suggestive of myositis
Outside MRI re-discussed- myositis in paraspinal muscles in thoracolumbar and cervical area and bilateral renal cysts
Right lung collapse with trace bilateral pleural effusion
Child waa started on methyl prednisolone and found to improve.
She was extubated shifted out of PICU after 7 days and started on PMR ans respiroatory ans showed progressive improvement.
WES- suggestive of Glutaric Academia Type 2C
Child is now ambulating well and able to do daily activities without support. She is on a high carbohydrate, low protein and fat diet.
Multiple Acyl CoA Dehydrogenase Deficiency or Glutaric Acidemia is a result of defect of electron transfer from all of the acyl coa dehydrogenases through their physiologic electron acceptor to coenzyme Q in complex 3 of ETC.
Neonatal onset MADD presents with metabolic crisis, hypotonia, cardiomyopathy, hepatomegaly
Later Onset MADD has a lifelong risk of acute intermittenr episodes of vomiting, dehydration, hypoketotic hypoglycemia, hepatomegaly and lipid storage myopathies.
Treatment plan requires a low protein and low fat diet, avoidance of prolonged fasting, supplementation with carnitine and riboflavin, glycine. Acute decompensations should be treated with IV glucose and carnitine.