No abstract

Introduction. Carpenter syndrome is a polymorphic disorder transmitted by autosomal recessive inheritance, caused by mutations in the RAB23 gene [1]. These genetic disorders are reflected on the biogenesis of intracranial structures. This syndrome was described for the first time in 1900 by the British doctor George Carpenter. It may include congenital heart diseases, mental retardation, hypogonadism, obesity, umbilical hernia, developmental 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 infant 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 Neurosurgery in Skopje, Republic of Macedonia. The infant was referred to our Department from the University Pediatric Clinic because of trigonocephaly and polydactyly with two thumbs on his right hand. The infant had already been twice hospitalized at the University Pediatric Clinic for two recurrent lung infections suggestive of Carpenter syndrome. The diagnosis of trigonocephaly 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 anesthesia, 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 transposition rotating the flap for 180 degrees without /touching the orbital rims. Results. The postoperative period was uneventful except for the expected forehead swelling. The infant was discharged from the hospital on the 7th 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.

Introduction. Dandy-Walker syndrome is a congenital brain malformation involving cerebellum with partial and complete vermian agenesis, enlargement of the fourth ventricle and surrounding fluid spaces, cyst formation in posterior cranial fosse pushing tentorium upward [1,2]. Hydrocephalus or an increase in the pressure of the fluid spaces may also be present or other malformation as corpus calosum hypoplasia or agenesia, occipital encephalocele, malformation of the heart, face, limbs fingers and toes [3-5]. The symptoms often occur in early infancy and include slow motor development and progressive enlargement of the skull. The diagnostic is done by ultrasound, CT and MRI [6-11]. The treatment of this syndrome may be complex and sometimes includes various experts such as pediatrician, pediatric neurosurgeon, physiatrist, psychologist, sociologist or others. The treatment consists of treating the associated problems such as hydrocephaly [12-15]. Prognosis of Dandy-Walker syndrome is variable and the morbidity and mortality depends on severity of the syndrome and associated malformations [16]. Aim. The aim of this paper was to demonstrate how severe spontaneous evolution of Dandy-Walker syndrome may be expressed and the problems and dilemmas which may appear related to its treatment. Case report. A six-year-old boy was referred to the neurosurgeon because of the excessive growth of the skull in anteroposterior axis caused by a wide base occipital encephalocele. Although the psychological development was near the low limit of the IQ, the enormous head had not allowed verticalization of the child and further progress of his psychomotor development. The head was so heavy that could not be supported by the child’s neck. Surgical procedure. We performed a cranial skull reduction with primary cranioplasty assisted by a plastic surgeon and Pudentz shunt procedure. Result. The follow-up period lasted two years. The child started to walk, hypotonia and Babinski signs disappeared, communication and his IQ improved. The esthetic results are quite acceptable allowing him better development. Conclusion. The early recognition of anomalies such as Dandy-Walker syndrome with occipital encephalocele using ultrasound may suggest interruption of the pregnancy on time [6-9]. However, the right diagnostic procedure for detecting deformities of the newborn and infant’s head at birth is MRI, and the adequate surgical treatment can prevent abnormal and excessive growth of the skull and disorders in the psychomotor development during child’s growth. A multidisciplinary approach may prevent new disabled individuals in the society.

SummaryThe aim of this study is to show the various possibilities to treat this rare malformation, accentuating the results of the early surgical treatment before complications. material: The authors present 8 cases of patients with subcutaneous arteriovenous malformations, 5 females and 3 males (age of 7, 13, 19, 23, 27, 52 and 58 years) treated in the period of 1999 until 2015 at the Clinic for Neurosurgery and the Clinic for Plastic, Aesthetic and Reconstructive Surgery in Skopje, Republic of Macedonia. This malformation has been observed by the parents in the childhood, around the age of 3 years in all cases. Local red circonscripted nodule, soft, with manually discharging tendency and varicose dilated veins have been observed in all cases, deaf on both sides in one case, while in the older case, a cavernous sinus thrombosis caused unilateral exophthalmia, hyaline indurated ophthalmic vein, vertigo, arrhythmia, heart failure and bradypsychia have been observed. The size of the malformation has been from 2.5 to 7 cm. The diagnostics was done using CT, CT-angiography and digital angiography including external carotid angiography. Endocranial arterials peduncle was present in all cases. results: Six cases underwent surgery, while two cases were treated with several treatments of endovascular embolization. The follow up has been ranged from 2 to 15 years. All surgically treated patients improved without recurrence, the exophthalmia, bradypsychia and the heart problems regressed, while in patients treated with endovascular non-complete occlusion the AVM decreased, but still remained. In conclusion: The Surgical treatment remains a first option if it is possible, and as earlier as possible, while embolization is a useful tool in cases where a complete excision is not possible.