Colpocephaly
From Holoprosencephaly
Colpocephaly
What is Colpocephaly?
Colpocephaly is a congenital brain abnormality in which the occipital horns - the posterior or rear portion of the lateral ventricles (cavities) of the brain -- are larger than normal because white matter in the posterior cerebrum has failed to develop or thicken. Colpocephaly, one of a group of structural brain disorders known as cephalic disorders, is characterized by microcephaly (an abnormally small head) and mental retardation. Other features may include movement abnormalities, muscle spasms, and seizures. Although the cause of colpocephaly is unknown, researchers believe that the disorder results from some kind of disturbance in the fetal environment that occurs between the second and sixth months of pregnancy. Colpocephaly may be diagnosed late in pregnancy, although it is often misdiagnosed as hydrocephalus (excessive accumulation of cerebrospinal fluid in the brain). It may be more accurately diagnosed after birth when signs of mental retardation, microcephaly, and seizures are present.
Is there any treatment?
There is no definitive treatment for colpocephaly. Anticonvulsant medications are often prescribed to prevent seizures, and doctors rely on exercise therapies and orthopedic appliances to reduce shrinkage or shortening of muscles. .
http://www.ninds.nih.gov/disorders/colpocephaly/Colpocephaly.htm
Prognosis: A wide range of neuro-developmental outcomes has been reported in the presence of colpocephaly2. Perhaps this is because of uncertainty as to the exact etiology of the process. Of 36 cases reported in the modern literature, 13 patients had seizures. Twelve patients were noted to have mental retardation. Thirteen of 36 cases were affected by mild to severe movement disorders. Other reported outcomes include poor vision, speech and language difficulties, deafness, and chorioretinitis. Three of the 36 cases reviewed had completely normal neurologic and motor development2
Etiology
Colpocephaly has been associated with chromosomal anomalies such as trisomy 8 mosaic5 and trisomy 9 mosaic2. Infectious associations have included gestational exposure to Toxoplasma gondii2. Maternal gestational ingestion of ethanol, oral contraceptive medications, dipropion hydrochloride (Tenuate®), and doxylamine succinate (Bendectin®) have been reported in association with colpocephaly2. Colpocephaly has been described in conjunction with Pierre-Robin syndrome6.
Prenatal diagnosis
Antenatal diagnosis is made with the demonstration of enlargement of either or both occipital horns of the lateral ventricles. The atria may be enlarged as well. The remainder of the ventricular system should have normal dimensions and configuration. To meet the criteria established by Yakovlev, partial or complete agenesis of the corpus callosum should be noted as well.
http://www.thefetus.net/page.php?id=100
Associated anomalies: Optic nerve hypoplasia, chorioretinal coloboma, microcephaly, micrognathia, cleft palate, hypoplastic nails, simian creases, cerebellar atrophy6, enlargement of the cisterna magna, microgyria, macrogyria, pachygyria, lissencephaly7, meningomyelocele, Pierre-Robin syndrome6, neurofibromatosis6, schizencephaly3.
Recurrence risk: No reported figures given in the literature.
Management: Prenatal diagnosis should prompt search for associated anomalies, karyotypic abnormality, gestational viral exposure, and maternal toxin ingestion.
