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.