*Lobna M.(MD), **Ekram F.(MD),Mohamed R.(MD),*Hoda M.(MD),***Dina H.(MD),***Lamia T.(MSc)

*Pediatric department, ***Clinical and Chemical pathology ,Cairo University, **Biochemical genetic ,,National Research Center .

Speaker : Prof. Lobna  Mansour (MD)

Neuropediatric  Unit ,Cairo University

Aim of  work:  highlight the clinical and biochemical workup of peroxisomal disorders , diagnosis,management hence screening  for asymptomatic  siblings .

Materials and Methods:35 cases 4 months -15 years(29males &6 females)presenting with e.g. seizures, visual, hearing, defect, delayed milestones, hypotonia , disturbed gait and  acute encephalopathy ,subjected  to MRI brain,(VLCFA), abdominal ultrasound (7 ), skeletal survey (1 ), Adrenal profile (31 ), TMS/MS (10 )  and ABR in 14 .

Results: Dysmorphic features,hypotonia and hepatomegaly   7 , Ataxia 24  .MRI brain :abnormal white matter  signal (ALD) in 19 cases. Fundus examination revealed retinitis pigmentosa 4  & pallor of optic disc (5 ). Adrenal  hypofunction 12 ,  hearing loss in 11,calcific foci in the joints in one . VLCFA :abnormal in all  , increased C24:0,C26,:0  , C24:0/C22:0 ,  C26:0/C22 (23 )  ,increased phytanic acid in one. identified Peroxisomal disorders : Zellweger spectrum : 7 (2 neonatal ALD), chondrdysplasia punctata (1) and XALD (27 :4  presymptomatic siblings ). BMT done for 2 presymptomatic siblings, one  showed normal development& MRI  improved VLCFA  .

Conclusion: Zellweger spectrum considered with generalized hypotonia,dysmorphic features,,hepatomegaly , abnormal VLCFA. Elevated VLCFA is reliable for  XALD. XALD should be considered in  D.D of acute encephalopathy .Early diagnosis of XALD allows for BMT. Screening of siblings is mandatory for asymptomatic cases.