All issues > Volume 38(11); 1995

Case Report

J Korean Pediatr Soc. 1995;38(11):1577-1582. Published online November 15, 1995.

A Case of Arthrogryposis Multiplex Congenita with Congenital Hypertropic Pyloric Stenosis

Seung Chul SC Yang¹, So Young SY Kim¹, Hyun Hi HH Kim¹, Seung Hoon SH Han¹, Jong In JI Byun¹, Won Bae WB Lee¹

¹Department of Pediatrics, Catholic University Medical College, Seoul, Korea

Abstract

Arthrogryposis multiplex congenita is a congenital syndrome characterized by extreme stiffness and contracture of multiple joints and associated hypoplasia or absence of development of muscle, bone, and soft tissues; and refers to a heterogeneous group of congenital disorders of unknown but probably multiple etiologies. We present a 50 days old male baby who has had mmultiple fixed contractures of joints since birth and frequent projectile vomiting. Internal rotation of bilateral shoulders, flexion contracture of elbows, flexed wrists and fingers, marked scoliosis, flexion and internal rotation of of hips, flexion of knee, equinovarus of feet were noted. Barium swallowing were performed and showed hypertropic pyloric stenosis. Muscle biopsy showed severe size variation of muscle fibers with fibrosis and fatty infiltration. Arthrogryposis multiplex congenita was impressed. Early rehabilitation was arranged. Normal intelligence and normal life span are expected. We have experienced a case of typical arthrogryposis multiplex congenita with hypertropic pyloric stenosis and report with a brief related literature review

Keywords :Arthrogryposis multiplex congenita, Pyloric stenosis