Indian Pediatrics 2002; 39:878  

Marden-Walker Syndrome

A nine-month-old male child born to non-consanguineous parents presented with severe somatic and psychomotor retardation. On examination his weight was 2.5 kg, height 55 cm and head circumference 43 cm. He had decreased muscle mass, a fixed facial expression with a protruding tongue and semi-open eyes. There were multiple joint contractures, arachnodactyly and bilateral inguinal hernia (Fig.1). There were no clinically apparent renal, cardiovascular or gastrointestinal anomalies. The serum CPK, EMG, mucle biopsy, CT scan of brain and USG of abdomen were normal.

Fig. 1. Bilateral inguinal hernia, blepharophimosis, multiple joint contracture, immobile facies.

Marden Walker Syndrome is an autosomal recessive disorder characterized by failure to thrive, marked motor and mental retardation, multiple malformations in the form of peculiar facies associated with small muscle mass, kyphoscoliosis and arachnodactyly. Peculiar facies is due to blepharophimosis, congenital ptosis, hypoplastic mandible and low set malformed ears. Some time cleft palate, cardiac and renal anomalies are associated with it. Dandy Walker cyst and pulmonary hypoplasia have also been reported. Schwartz-Jample syndrome sometimes simulates this condition, but is differentiated by generalized hypertrophy of muscles and continuous electrical activity in EMG.