Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency
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SCIENTIFIC LETTER
Recurrent Stroke Like Episodes Secondary to Ornithine Transcarbamylase Deficiency Vykuntaraju K. Gowda 1
&
Priya Gupta 1 & Sanjay K. Shivappa 2 & Naveen Benakappa 2
Received: 23 November 2019 / Accepted: 9 January 2020 # Dr. K C Chaudhuri Foundation 2020
To the Editor: Stroke like episodes (SLEs) are episodic events that mimic stroke [1]. SLEs should be differentiated from strokes as they require specific treatment. SLEs do not follow vascular territory on imaging [2]. Many inborn errors of metabolism (IEM) can present as SLEs like organic aciduria, mitochondrial encephalopathies and urea cycle disorders [3]. We are reporting a case of SLEs due to Ornithine Transcarbamylase (OTC) deficiency with novel mutation. An 18-mo-old boy, born to non-consanguineously married couple presented with left sided weakness, seizures, vomiting, and drowsiness following febrile illness of two days duration. There was a past history of fever, vomiting, seizures, left sided weakness and encephalopathy at 14 mo of age, and recovered over two-weeks. Following first episode of illness, child recovered sensorium, hemiparesis improved partially and was gaining milestones. On examination, vitals were stable. Child was undernourished [weight: 8.3 kg (−2.53 SD)], short statured [height: 76 cm (−2.43 SD)] and normal head circumference [45 cm (−1.83 SD)]. On neurological examination, left sided hemiparesis without meningeal signs of irritation was found. Complete hemogram, renal function tests and liver function tests all were normal. Serum ammonia was 304 μg/ dl (N: 10–45). Serum lactate was 32 mg/dl (N: 3.6–18). Acid blood gas report was showing mixed respiratory alkalosis with metabolic acidosis. Tandem mass spectrometry was normal. MRI of brain showed high signal intensity in diffusionweighted images and low intensity in ADC mapping in right temporal, parietal and bilateral frontal lobe. Initially possibility of viral infection was kept but routine CSF analysis and
* Vykuntaraju K. Gowda [email protected] 1
Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka 560029, India
2
Department of Pediatrics, Indira Gandhi Institute of Child Health, Bengaluru, Karnataka, India
herpes simplex virus PCR were negative. Child improved clinically and repeat ammonia was 49 μg/dl after treating with sodium benzoate. Clinical exome by next generation sequencing for IEM showed, a pathogenic hemizygous missense variation in exon 4 of the OTC gene (c.386G > A) that results in the amino acid substitution of Histidine for Arginine at codon 129 (p.Arg129His). The p.Arg129His variant has not been reported in the 1000 genomes and ExAC databases and has a minor allele frequency of 0.003% in the internal database lab tested. The in silico predictions# of the variant are probably damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species. Confirmation was done by Sanger sequencing for index child and was negative in both parents. Dur
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