1043-3155 Pediatr Neurol Briefs pedneurbriefs Pediatr Neurol Briefs Pediatric Neurology Briefs Pediatr Neurol Briefs 2166-6482 1043-3155 2166-3155 Pediatric Neurology Briefs Publishers Chicago, IL, USA PNB-2-60-b 10.15844/pedneurbriefs-2-8-7 Neonatal Seizures Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Infantile Spasms, Hypsarrhythmia, and Adrenoleukodystrophy (ALD) http://orcid.org/0000-0002-0173-7931 Millichap J. Gordon MD 1 2 * Division of Neurology, Children's Memorial Hospital, Chicago, IL Departments of Pediatrics and Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL Correspondence: Dr. J. Gordon Millichap, E-mail: jgmillichap@northwestern.edu 08 1988 01 08 2016 2 8 60 61 Copyright: © 1988 The Author(s) 1988 This work is licensed under the Creative Commons Attribution 4.0 International License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity

An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from the John F. Kennedy Institute, Johns Hopkins University, Baltimore, Maryland.

 Hypsarrhythmia Clinical Diagnosis Biochemical Changes

An 8 1/2 month-old girl with seizures beginning at 5 days, hypsarrhythmia in the EEG, severe retardation, and a clinical diagnosis of infantile spasms was discovered to have biochemical and pathological features of adrenoleukodystrophy, as reported from the John F. Kennedy Institute, Johns Hopkins University, Baltimore, Maryland. Laboratory studies showed elevated plasma levels of very long chain fatty acids, and postmortem examination at 14 months revealed cerebral destructive lesions and adrenal cortex atrophy. Seizure frequency had diminished initially with prednisone 20mg/daily, but improvement was not maintained. The biochemical changes resembled the abnormalities observed in X-linked ALD and differed from those in the neonatal form. Comparison with other known peroxisomal disorders suggested a unique example of this category of disease. [1]

COMMENT. For an excellent review of the various entities now classified as generalized peroxisomal disorders, please refer to Naidu, Moser, [2] (reviewed in Ped Neur Briefs 1988;2:30). Immunopathological factors have been postulated in the pathogenesis of CNS lesions in X-linked adrenoleukodystrophy. Cyclophosphamide administered to 4 boys between 6 and 11 years of age with proven ALD failed to slow the rate of neurological progression. [3] Also, [4].

 Naidu S Hoefler G Watkins PA Chen WW Moser AB Hoefler S Neonatal seizures and retardation in a girl with biochemical features of X-linked adrenoleukodystrophy: a possible new peroxisomal disease entity Neurology 1988 Jul 38 7 1100 1107 10.1212/WNL.38.7.1100 3386829 Naidu S Moser AE Moser HW Phenotypic and genotypic variability of generalized peroxisomal disorders Pediatr Neurol 1988 Jan-Feb 4 1 5 12 10.1016/0887-8994(88)90017-3 3069099 Naidu S Bresnan MJ Griffin D O'Toole S Moser HW Childhood adrenoleukodystrophy. Failure of intensive immunosuppression to arrest neurologic progression Arch Neurol 1988 Aug 45 8 846 848 10.1001/archneur.1988.00520320032011 3293554 Stumpf DA Hayward A Haas R Frost M Schaumburg HH Adrenoleukodystrophy. Failure of immunosuppression to prevent neurological progression Arch Neurol 1981 Jan 38 1 48 49 10.1001/archneur.1981.00510010074014 7458724