We report three cases of large occipito-encephaloceles that were managed in the Neurosciences Unit, Hospital Universiti Sains Malaysia over the last 5 years. All patients had pre-operative MRI (magnetic resonance imaging) evolution and mapping of the sagittal sinus tract. The cerebrospinal fluid (CSF) of all three patients were initially diverted by means of ventricular shunt two weeks prior to shunt removal. The slow drainage of CSF prevented electrolyte and volume disturbances due to sudden decompression during their definitive occipital encephalocele operations. After 3 years follow-up, all these patients are progressing well.
Frontoethmoidal meningoencephaloceles (FEM) are exceedingly rare in the western hemisphere, Australia, and Europe with an estimated frequency of 1 in 40,000 live births. Among the inhabitants of Thailand, Burma, Malaysia, Indonesia, and parts of the Soviet Union, however, the frequency is as high as 1 in 5000, accounting for 15% of all neural tube defects (NTD). Normal maternal serum alpha-fetoprotein (MSAFP) values usually will be found in these cases since most encephaloceles are closed, skin covered defects. Correct interpretation of the sonographic findings is crucial in establishing a diagnosis as well as giving prognostic and recurrence risk information. To our knowledge, this is the first reported case of prenatally diagnosed FEM. Perinatal management, differential diagnosis for disorders associated with this malformation, and epidemiologic information regarding this rare condition are discussed. It is anticipated that the prenatal sonographic findings may be applied to establish this diagnosis in similarly affected fetuses.
47 XYY syndrome is a sporadic condition in which the human male receives an extra Y chromosome. Few ocular associations have been documented. The authors report the first case of 47 XYY associated with morning glory syndrome, frontonasal meningoencephalocele, and midfacial defects.