engleski

Marden–Walker Syndrome

INTRODUCTION: This study presents a case of a twelve year old girl with Marden–Walker syndrome. Marden–Walker syndrome (MWS) is a rare autosomal recessive congenital disorder. Although it affects both males and females, it is marginally more common in boys. There have been 30 cases of Marden-Walker Syndrome reported in the world medical literature. The syndrome is characterized by typical face malformations, blepharophimosis, microcephaly, micrognathia, multiple joint contractures and delayed motor development. It is often associated with cystic dysplastic kidneys, dextrocardia, and eyes abnormality. The exact genetic malfunction is not yet established, and therefore there is no possibility of prenatal genetic diagnosis. Most of the signs of MWS are present during the neonatal period. Differential diagnosis includes trisomy 13 and 18, infantile spinal muscular atrophy, Freeman-Sheldon syndrome, Schwartz-Jampel syndrome and similar diseases. The treatment of MWS is symptomatic and dependent upon the specific symptoms present in each patient. MATERIALS AND METHODS/RESULTS: A twelve year old girl reported in this study, was first presented to the hospital at the age of three months when she experienced frequent respiratory and urogenital infections. Her symptoms also included: vesicoureteral reflux, splenomegaly, epilepsy, psychomotor retardation, dysmorphic head, micrognathia and muscular hypotonia. The girl was very early involved in a complex rehabilitation program that incorporated: neurodevelopmental stimulation, conventional medical gymnastic with Vojta’s and Bobath’s therapeutic concepts and varieties of psychomotor-stimulation programs. In addition to these therapeutic methods, parents’ education and support revealed to be very important in providing domicile stimulation to the child development from a very early age. CONCLUSION: In conclusion, multidisciplinary management with particularly extensive neurodevelopmental stimulation from early childhood helps with developmental problems and shows to be a vital factor in managing the complex conditions associated with Marden–Walker syndrome.

Marden–Walker Syndrome; rehabilitation

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