The aim of this study was to compare cranial Magnetic Resonance (MR) imaging findings in cerebral palsy (CP) patients with clinical findings and evaluate damage ascribed to prenatal, natal and postnatal reasons by preterm, term or postterm characteristics. One thousand, one hundred CP patients registered at Dr. Ayten Bozkaya State Hospital of Cerebral Palsy Children and Rehabilitation Center from 2007 to 2010 were included in the study retrospectively. Cranial MR images studied in Bursa State Hospital Radiology Unit were evaluated by "a single senior MRI radiologist".The most common abnormality was cerebral atrophy (80.2%) followed by periventricular leukomalacia (PVL) (49.9%). The most common type was spastic tetraplegia (67.9%), and the second most common type was hypotonic CP (15.6%). The percentage of congenital central nervous system (CNS) abnormality was 14.09%. The most common abnormality was corpus callosum (CC) agenesis and colpocephaly (2.3%). The least common conditions were cortical dysplasia, heterotopia and rhombencephalosynapsis. The percentage of cases born to consanguineous parents was 19.2%. In Hypoxic Ischemic Encephalopathy (HIE) patients born to consanguineous parents, PVL was cystic and moderate. Consanguineous marriage was statistically significant in the patients with cortical dysplasia and heterotopia (p<0.04), delay in myelination (p<0.001) and thalamus involvement (p< 0.008). Consanguineous marriage was also statistically significant in spastic diparetic (p<0.017), hypotonic (p<0.001) and bedridden patients (p< 0.006). The presence of both congenital CNS anomaly and PVL was only revealed in spastic tetraparetic type. Twenty-nine% of the cases were premature, while 66.4% were term children. Low birth weight (32.7%) constituted a risk factor for all clinical types, except mixed type CP. The percentage of patients with natal causes only was 21.5%. Kernicterus, cerebrovascular causes and HIE accounted for 6.3%, 2.9% and 54.4% of the cases, respectively. This study may indicate the importance of consanguineous marriage, natal and postnatal care properties as the underlying causes of CP beyond the clinical management related to delivery and allow us to identify strategies for possible measures.

No abstract

Neurofibromatosis type 1 (NF 1) is a very often emerging neurocutaneous genetic disease. It is originated from the mutation in NF 1 gene which exists in chromosome, number 17 and appears once in 2500-3000 live birth. Also, spontaneous mutation is in charge of about 50% of cases. Endemic clinical features are cafe-au-lait stains on the skin, cutaneous neurofibromas, freckling on cleavages and Lisch nodules. More serious problems which ruin quality of life are plexiform neurofibromas, central neural system tumors, endocrine disorders, orthopedic problems, behavior disorders and cognitive impairment. In addition, a discriminating diagnosis was performed with Proteus syndrome which the asymmetric and progressive extremity hypertrophy could be seen with.In this study, we found appropriate to evaluate a 25 year old male patient with no family history, whose quality of life was seriously spoiled, who had hydrocephaly due to aquaduct stenosis, which created both aesthetic and functional problems in his left hand, who had an asymmetric extremity hypertrophy because of cutaneous neurofibromas and painful hip dysplasias and due to arthropathic neuropathy developed, additionally who was an inpatient with cognitive incompetence in the lights of literature data.

No abstract