Էջ 1 սկսած 372 արդյունքներ
Congenital diaphragmatic hernia (CDH) in neonates may occur as an isolated finding, in association with other anomalies, or as part of a genetic syndrome. We report the first case of an infant with CDH who presented with hyponatremic seizures due to adrenal hypoplasia congenita (AHC). The patient
With the advances in neurogenetics association of epilepsy and intellectual disability with chromosomal abnormalities are being increasingly recognized. While onset of seizures with mental retardation at an early age indicate chromosomal abnormality, combination of characteristics facial dysmorphism
Asymptomatic Morgagni hernia can be discovered in adults as an incidental finding or because of acute gastrointestinal symptoms. We report a case of a 76-year-old man with an incidental diagnosis of seizure attack. Obesity and the increased abdominal pressure caused by abdominal muscles contraction
Slit-ventricle syndrome (SVS) is a recognized complication of ventricular shunt malfunction, resulting in cyclical symptoms without ventricular dilatation. We present a case of SVS with transient, repetitive, and progressive signs of brainstem herniation evidenced by pupillary A boy with congenital atrichia, ichthyosis follicular, keratitis, cutaneous infections and a huge inguinal hernia, but without deafness is reported. We believe it represents a new case of a rare X-linked recessive syndrome known as ichthyosis follicularis, alopecia, photophobia syndrome (IFAP). The
Sandifer's syndrome is a rare, probably underdiagnosed, and usually pediatric movement disorder associated with gastroesophageal reflux disease. Often, it is misdiagnosed as epilepsy or paroxysmal dyskinesia. We report the case of an adult female with Sandifer's syndrome initially diagnosed as focal
BACKGROUND
Abnormal motor posturing is often observed in children with cerebral malaria, but the aetiology and pathogenesis is poorly understood. This study examined the risk factors and outcome of posturing in Kenyan children with cerebral malaria.
METHODS
Records of children admitted to Kilifi
We explored the relationship between seizure activity (SA) and/or chronic epilepsy (CE) and short-term neurodevelopmental outcomes following fetal myelomeningocele (fMMC) surgery. Retrospective databases and a parental questionnaire focusing on common complications of hindbrain herniation associated
We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmental delay. In addition, small and fleshy hands and feet as well as hypoplastic scrotum and testes were observed. The clinical features of the patient are compared with the patients