A Case of Multiple Pterygium Syndrome Associated with Chronic Idiopathic Intestinal Pseudo‐Obstruction Syndrome

Abstract

Multiple pterygium syndrome (MPS) is a rare condition characterized by pterygia of the neck, finger, antecubital, popliteal, and intercrural areas. The present case study describes a male patient afflicted with this condition. This case has two unique features 1) the patient exhibited both mental and physical retardation at 2 years of age, a rare symptom of this disorder, and 2) the patient also had chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS). Although the pathogenesis of both MPS and CIIPS is unclear, some features of the present case suggest a possible pathogenic mechanism.Key words: multiple pterygium syndrome, chronic idiopathic intestinal pseudo-obstruction syndrome Multiple pterygium syndrome (MPS) is a rare condition characterized by pterygia of several joints such as the neck, finger, antecubital, popliteal, and intercrural areas. , Escobar et al. (1978 defined MPS as a syndrome characterized by pterygia of multiple joints, flexion contractures of joints, genital anomalies, cleft palate, and growth retardation. This syndrome is thought to be inherited in an autosomal recessive manner (Escobar et al., 1978). The present case report describes a patient with this syndrome who also exhibited chronic idiopathic intestinal pseudo-obstruction syndrome (CIIPS). A possible pathogenic mechanism for MPS is proposed. CASE REPORTThe subject in this case was a male born in 1990. The child was delivered vaginally from a 37-year-old mother following a full-term pregnancy. The father was 41 years old and not related to the mother. Both Abbreviations used in this paper: CIIPS, chronic idiopathic intestinal pseudo-obstruction syndrome; MPS, multiple pterygium syndrome; TPN, total parenteral nutrition.