No abstract

No abstract

Background:Delleman–Oorthuys syndrome, also known as oculocerebrocutaneous syndrome, is a rare congenital anomaly with ocular, cerebral and cutaneous manifestations. So far, only 40 cases have been described.Clinical case:A 3-year-old female Nigerian child with no identifiable left eyeball, multiple left-sided facial skin defects and delayed developmental milestones but otherwise uneventful medical and family history was evaluated at the Ophthalmology and Paediatric Neurosurgery in Ibadan, Nigeria. Besides the mentioned defects that were present since birth, brain imaging revealed several brain abnormalities including intracranial cysts. Global hyperreflexia and bilateral flexor plantar response were observed upon clinical examination. Left micro-ophthalmia and orbital mass were detected. A histological assessment of the orbital mass revealed it to be rudimentary ocular tissue. The diagnosis of Delleman–Oorthuys syndrome was made based on the clinico-radiological features. The patient underwent a left-sided posterior fossa cystoperitoneal shunt. The left orbital mass was enuclated and the patient is currently awaiting left eyelid reconstruction and an orbital implant and repair of the left alar nasi cleft.Conclusion:To our knowledge, this is the first published report of Delleman–Oorthuys syndrome in a female child of West African descent. Given the variable manifestations of Delleman–Oorthuys syndrome, and overlap with other syndromes, the Delleman–Oorthuys syndrome may be underreported. Neuroimaging of patients with cutaneous tags, orbital cysts and micro-ophthalmia could reveal more cases.

BackgroundAntiseizure medications, such as phenytoin sodium, have been shown in some reports to reduce the incidence of early post-traumatic seizure. These medications, however, are not without side effects which may be dose related or duration related. The risks associated with short-term therapy are minimal and often dose related (and hence avoidable). This study intends to determine the efficacy of a short-course (48-hour dose) of phenytoin in prevention of early post-traumatic seizureMethodsThis was a prospective randomised double-blind clinical intervention study. Head injured patients presenting within the first 24 hours were randomly assigned to either 48-hour dose of phenytoin or control groups, and were observed for clinical seizure over a week. The difference in the incidences of early post-traumatic seizure between the two groups was determined by χ2test. A p<0.05 was considered as statistically significant.ResultsA total of 94 patients were included in the study, 47 each in the control group and the phenytoin group. There were 77 males and 17 female (M:F 4.5:1). Both groups had similar demographic and clinical profile. The incidence of seizure was 21.3% in the control but 2.1% in the treatment arm (p<0.01). All seizures occurred within 24 hours of trauma in the control, while the only episode of seizure in the treatment group occurred later.ConclusionA short-course (48-hour dose) of phenytoin might be an effective prophylactic treatment to reduce the incidence of early post-traumatic seizure.