ABSTRACT
Biotinidase defciency (BD) is an autosomal recessive disorder caused by bi-allelic mutation in the BTD gene. Clinical manifestations in BD mainly depends on residual biotinidase enzyme activity, although there are some exceptions. Broadly BD disorders are classifed as profound BD and partial BD. Further profound BD can be early onset, late onset, and sometimes may be asymptomatic. Clinically late-onset profound BD can present with spectrum of manifestations ranging from single organ to multiple organ involvement, typically afecting function of brain, eye, ear, and skin. Here, a frst-born child to consanguineous parents with late-onset profound BD presenting with hyperventilation secondary to lactic acidosis, hypotonia, evolving spasticity, and abnormal neuroimaging fndings caused by novel homozygous variant, c.466-3T>G in the BTD gene is reported.
ABSTRACT
Objectives: To report efficacy and outcome of mechanical thrombectomy for treatment ofpediatric acute ischemic stroke with large vessel occlusion using stent retrievers. Methods:Retrospective record review of institutional database for patients <18 years of age. Results:Five boys aged between 6 to 17 years received reperfusion therapy using mechanicalthrombectomy for acute ischemic stroke with large vessel occlusion (2 basilar, 2 middlecerebral and 1 internal carotid artery). Pediatric National Institute of Health Stroke Scale(PedNIHSS) at onset ranged from 12 to 21. Complete recanalization as defined by themodified Treatment In Cerebral Infarction scale (mTICI 3 or 2b) was achieved in all, usingstent retreivers. Favorable outcome as per the modified Rankin scale (mRS 0-1) wasachieved in all with no peri-procedural complications. Conclusions: Mechanicalthrombectomy using retrievable stents is a safe and effective therapy for pediatric ischemicstroke due to large vessel occlusion, and may be offered in carefully selected patients.