Dados do Trabalho

Título

MARDEN-WALKER SYNDROME AND EPILEPSY: A CASE REPORT

Apresentação do caso

We report a 24-year-old male with psychomotor retardation, blepharophimosis, micrognathia, brachycephaly, small mouth, and immobile face. High arched palate, single palmar crease, kyphoscoliosis, bilateral pes planus, inguinal hernia, pyloric stenosis, recurrent infections, bilateral camptodactyly, wide set eyes, decreased muscle mass, hypotonia, convergent strabismus and ptosis in the left eye, growth retardation, multiple congenital contractures and a lack of spontaneous or provoked motor activity were also noticed. Contractures improved with aging but mental retardation remained severe. He also presented epilepsy, outbursts of laughter, and auto-aggressiveness.

Discussão

The subject is probably the third adult reported with Marden-Walker syndrome until now. He is also the first adult to be described with epilepsy. Seizures were described at the age of 13 days, 3 months, and 10 months. Only in one of these studies, they were of difficult control. Multiple congenital contractures, blepharophimosis, high arched or cleft palate, immobile face, chest deformities, low-set ears, small mouth, camptodactyly, micrognathia, and decreased muscular bulk are generally present since birth. Cerebral, renal and cardiac abnormalities, pyloric stenosis, inguinal hernia, and cryptorchidism may also be present. Though some mutations in the PIEZO 2 gene have been identified in a few Marden-Walker patients, the cause of the disease is not known. The inheritance is thought to be autosomal recessive and the clinical characteristics of this disease seem to be part of a spectrum rather than of a single condition, and phenotypic features overlap with those of many other syndromes.

Comentários finais

As is typical of the disease course, in our patient the joint contractures were not progressive and improved with physiotherapy and age, though mental retardation, especially speech delay, remained severe. The change in behavior in puberty and adulthood, with hyperactivity, restlessness, and auto and hetero aggressiveness seen in this individual were already described in previous studies. The outbursts of laughter, skin lesions with carbamazepine, and secondary parkinsonism were still not reported in a Marden-Walker case.

Palavras-Chave

Marden-Walker, epilepsy, adulthood