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Objectives: Peroxisomal disorders are a group of genetically heterogeneous metabolic diseases that share some dysfunction of peroxisomes. This study is designed to review different peroxisomal disorders and present our experience at Saad Specialized Hospital (SSH) with 6 different patients presented to our hospital from Feb. 2005 till July 2005.
Methods: Four boys and two girls presented with clinical signs and symptoms of peroxisomal disorders were fully investigated at SSH. They were subjected to full general and neurological examinations, lab investigation including liver functions, kidney functions, plasma VLCFA, plasmalogen and phytanic acid determination, Detailed studies in fibroblasts, including plasmalogen biosynthesis, fatty acid beta-oxidation, phytanic acid and alpha-oxidation, brain CT scan and MRI, ACTH stimulation test and NCV were performed for the four boys.
Results: The two girls presented with dysmorphic features, neonatal hypotonia and failure to thrive. Two boys presented with progressive spasticity of both lower limbs, one boy presented with convulsions, communication disorder and spasticity and the last boy presented with late onset ataxia. Plasma VLCFA levels were high in all patients; abnormal liver and kidney function tests were reported in the two girls. Demyelination of white matter consistent with ALD was detected in MRI study of two patients, and Delayed NCV was detected in 2 patients. Abnormal ACTH stimulation test was reported in one patient, plasmalogen level was low in three patients and phytanic acid was high in one patient.
Conclusion: The clinical heterogeneity of peroxisomal disorders constitutes a diagnostic challenge demanding a high index of suspicion on the clinician's part. In our study the two girls presented with Zellweger phenotype one boy presented with adrenoleucdystrophy, two boys presented with adrenomyeloneuropathy, and one boy presented with Refsum disease. The availability of VLCFA determination give good chance for screening, early and prenatal diagnosis can be done via gene analysis.