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-1-32-a 10.15844/pedneurbriefs-1-5-2 Degenerative and Metabolic Diseases Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Cerebro-Hepato-Renal (Zellweger) Syndrome 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 10 1987 01 08 2016 1 5 32 32 Copyright: © 1987 The Author(s) 1987 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. Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome

Selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus were the neuropathological findings in 3 males with Zellweger syndrome examined at the Medical Unit S Carolina, Charleston, SC, the John F.

 CNS Neurons Fatty Acid Metabolism Neuronal Migration Defects

Selective neuronal lipidosis and neuroaxonal dystrophy of the dorsal nucleus of Clarke and lateral cuneate nucleus were the neuropathological findings in 3 males with Zellweger syndrome examined at the Medical Unit S Carolina, Charleston, SC, the John F. Kennedy Institute, Johns Hopkins Univ, Baltimore, MD, and the Philadelphia Children’s Hosp. Large amounts of abnormal cholesterol esters containing saturated and monosaturated very long-chain fatty acids were demonstrated in the striated neurons of the dorsal thoracic cord. The CNS neurons of these patients manifested the same morphological alteration as adrenocortical cells of adreno-leukodystrophy, and many of the striated neurons were degenerate or necrotic. It is suggested that a more generalized defect in neuronal fatty acid metabolism may explain the neuronal migration defects characteristic of Zellweger syndrome. These consist of pachygyria, micropolygyria and cerebral and cerebellar heterotopia. [1]

COMMENT. CHR (Zellweger) syndrome, transmitted as an autosomal recessive, is invariably fatal within a few months after birth. Prenatal diagnosis may be made by amniocentesis and the production of very-long-chain fatty acids (VLCFA) from cultured amniocytes [2, 3].The determination of VLCFA in the blood permits prompt diagnostic confirmation of CHRS in the infant with dysmorphic facial and skull features, liver enlargement and fibrosis, renal cysts, stippled calcifications of the patellae, Brushfield’s spots, optic atrophy and retinal pigmentation. Zellweger syndrome is a peroxisomal disorder. The lacking peroxisomes are cytoplasmic organelles containing oxidases and catalase and are involved in metabolism of hydrogen peroxide, fatty acids and bile acids.

 Powers JM Tummons RC Moser AB Moser HW Huff DS Kelley RI Neuronal lipidosis and neuroaxonal dystrophy in cerebro-hepato-renal (Zellweger) syndrome Acta Neuropathol 1987 73 4 333 43 3618126 10.1007/BF00688256 Björkhem I Sisfontes L Boström B Kase F Hagenfeldt L Blomstrand R Possibility of prenatal diagnosis of Zellweger syndrome Lancet 1984 Jun 2 1 8388 1234 5 6144940 Moser AE Singh I Brown FR 3rd Solish GI Kelley RI Benke PJ The cerebrohepatorenal (Zellweger) syndrome. Increased levels and impaired degradation of very-long-chain fatty acids and their use in prenatal diagnosis N Engl J Med 1984 May 3 310 18 1141 6 6709009 10.1056/NEJM198405033101802