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-4-94-a 10.15844/pedneurbriefs-4-12-8 Developmental Disorders Neurology Pediatrics Nervous System Diseases Child Development Brain Diseases Neurosurgery Child Infant Arthrogryposis Congenita and Hepatorenal Abnormalities 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 12 1990 01 08 2016 4 12 94 94 Copyright: © 1990 The Author(s) 1990 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. Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant

Arthrogryposis multiplex congenita with renal and hepatic abnormalities, demonstrated at autopsy in a two month old child of consanguineous parents, is reported from the Pediatric Hospital, Coimbra, Portugal.

 Arthrogryposis Multiplex Congenita Metabolic Acidosis Electromyography

Arthrogryposis multiplex congenita with renal and hepatic abnormalities, demonstrated at autopsy in a two month old child of consanguineous parents, is reported from the Pediatric Hospital, Coimbra, Portugal. Three brothers and eight first cousins had died within the first month, all with jaundice. The brothers of the proband had limb abnormalities and one had polyuria, glucosuria, and metabolic acidosis. The patient was born with flexed knees and joint limitation, cubital deviation of the hands with clenched fingers, and muscular atrophy. During the second week of life the infant became jaundiced and on day 18 she was admitted with cholestatic jaundice and hepatomegaly. Electromyography and muscle biopsy were compatible with neuropathic muscular atrophy. There was hypercalcemia with increased density of the base of the skull, renal tubular degeneration, and biliary stasis with pigmentary deposits. The family pedigree suggested an autosomal recessive inheritance. [1]

COMMENT. This syndrome was first described by Nezelhof C et al [2] who reported four patients with these findings. As found in this case report, arthrogryposis is most commonly associated with neuropathic muscular atrophy. The underlying lesion may be found in the anterior horn cells of the spinal cord, the peripheral nerves, the neuromyal junction, the muscle, and sometimes in the brain.

 Saraiva JM Lemos C Gonçalves I Carneiro F Mota HC Arthrogryposis multiplex congenita with renal and hepatic abnormalities in a female infant J Pediatr 1990 Nov 117 5 761 3 10.1016/S0022-3476(05)83339-6 2231211 Nezelof C Dupart MC Jaubert F Eliachar E A lethal familial syndrome associating arthrogryposis multiplex congenita, renal dysfunction, and a cholestatic and pigmentary liver disease J Pediatr 1979 Feb 94 2 258 60 10.1016/S0022-3476(79)80839-2 762621