CARPENTER SYNDROME - CASE REPORT AND TREATMENT

Abstract

Introduction. Carpenter syndrome is a polymorphic disorder transmitted by autosomal recessive inheritance, caused by mutations in the RAB23 gene [1]. These gene- tic disorders are reflected on the biogenesis of intracra- nial structures. This syndrome was described for the first time in 1900 by the British doctor George Carpenter. It may include congenital heart diseases, mental retarda- tion, hypogonadism, obesity, umbilical hernia, develop- mental disorder, bone anomalies and frequent respiratory infections. Carpenter syndrome has two main features: craniosynostosis and more than five fingers or toes (2-4]. Aim. To present our experience in treatment of an in- fant with Carpenter syndrome including trigonocephaly and polydactyly. Case report. In May 2003, an eleven-month-old male infant with Carpenter syndrome was hospitalized in the Pediatric Department of the University Clinic of Neuro- surgery in Skopje, Republic of Macedonia. The infant was referred to our Department from the University Pediatric Clinic because of trigonocephaly and poly- dactyly with two thumbs on his right hand. The infant had already been twice hospitalized at the University Pediatric Clinic for two recurrent lung infections su- ggestive of Carpenter syndrome. The diagnosis of tri- gonocephaly and polydactyly with two thumbs on the right hand was made by physical examination, X-ray of the right infant's hand and computed tomography of the head. According to Oi and Matsumoto classification from 1986 [5], the infant had a severe form of trigonocephaly. Surgical procedure. Under general endotracheal anesthe- sia, the infant was placed supine on the operating table, a bifrontal skin incision was made and the scalp flap was created. The bifrontal craniotomy was realized into one bony piece succeeded by a modified Di Rocco's "shell" procedure including frontal translation and trans- Correspondence to: Vladimir Mirchevski, University Clinic for Neurosurgery, Clinical Center "Mother Teresa" Skopje, Macedonia, E- mail: neurosurgery skopje @yahoo. position rotating the flap for 180 degrees without /touching the orbital rims. Results. The postoperative period was uneventful ex- cept for the expected forehead swelling. The infant was discharged from the hospital on the 7 postoperative day, neurologically intact. Three months after surgery, the head had excellent esthetic appearance, with regular psychomotor development in line with the age of the patient. Six months after the first surgery the patient underwent a second plastic and reconstructive surgery in order to reduce the number of fingers. Conclusion. The early recognition and multidisciplinary approach could prevent new disabled individuals in the society. Our technique shortens the entire surgical procedure, diminishes the time under anesthesia and its complications, especially in departments where blood saving devices are not available