P86 – 2820: Clinical and biochemical profile of peroxisomal disorders in infancy and childhood

Abstract

Objective To highlight the clinical and biochemical workup of peroxisomal disorders for proper diagnosis, hence screening for asymptomatic siblings to allow early management. Methods 24 cases whose ages ranged from 4 months to 9 years (21 males & 3 females) presenting with variable neurological manifestation e.g. seizures, visual, hearing, defect, delayed milestones, hypotonia and disturbed gait. They were subjected to history taking and neurological examination, MRI brain, ophthalmologic exam, very long chain fatty acid assay (VLCFA), abdominal ultrasound (4 cases), skeletal survey (1 case), Adrenal profile (19 cases), metabolic screening TMS/MS (4 cases) VEP and ABR in 8 cases. Results Dysmorphic features, hypotonia and hepatomegaly were present in 4 cases and Ataxia (13 cases). MRI brain revealed abnormal white matter signal suggestive of adrenoleukodystrophy (ALD) in 19 cases. Fundus examination revealed retinitis pigmentosa in two cases & pallor of optic disc (2 cases). Adrenal profile showed hypofunction in 8 cases and ABR revealed hearing loss in 6 cases. Skeletal survey showed calcific foci in the joints in one case. VLCFA were abnormal in all casas with increased C24:0, C26:0, ratio, C24:0/C22:0, C26:0/C22 (23 cases) and increased phytanic acid in one case. Accordingly, identified, Peroxisomal disorders were: Zellweger spectrum in 4 cases, chondrdysplasis punctate (1) and ALD (19 cases). Conclusion MRI brain is helpful for detection of white matter diseases. Zellweger spectrum should be considered in cases with generalized hypotonia, dysmorphic features, hepatomegaly (PBD) and associated with abnormal VLCFA. Elevated VLCFA is highly reliable for diagnosis of ALD. Early diagnosis of ALD is very important to allow for BMT. Screening of siblings is mandatory for detection of asymptomatic cases.