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Porencephaly

Porencephaly is a type of Cephalic disorder. This is an extremely rare disorder of the central nervous system involving a cyst or cavity in a cerebral hemisphere. The cysts or cavities are usually the remnants of destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. more...

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Porencephaly most likely has a number of different, often unknown causes, including absence of brain development and destruction of brain tissue. The presence of porencephalic cysts can sometimes be detected by transillumination of the skull in infancy. The diagnosis may be confirmed by CT, MRI, or ultrasonography.

More severely affected infants show symptoms of the disorder shortly after birth, and the diagnosis is usually made before age 1. Signs may include delayed growth and development, spastic paresis (slight or incomplete paralysis), hypotonia (decreased muscle tone), seizures (often infantile spasms), and macrocephaly or microcephaly.

Individuals with porencephaly may have poor or absent speech development, epilepsy, hydrocephalus, spastic contractures (shrinkage or shortening of muscles), and mental retardation. Treatment may include physical therapy, medication for seizure disorders, and a shunt for hydrocephalus. The prognosis for individuals with porencephaly varies according to the location and extent of the lesion. Some patients with this disorder may develop only minor neurological problems and have normal intelligence, while others may be severely disabled. Others may die before the second decade of life.

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Clinical pearls genetic amniocentesis
From OB/GYN News, 10/15/02 by Bruce L. Flamm

Here are a few more pearls that may be helpful to residents and other physicians who have not had a great deal of experience with amniocentesis. The following tips are not the results of scientific studies but represent my opinions based on many years of clinical practice. Not all experts will agree with every one of these points. Nevertheless, if these pearls had been available 15 years ago, they would have saved me countless headaches.

* Inquire before you Insert; Talk before you Tap.

It may be a good idea to routinely ask patients if they have had any recent cramps or bleeding before performing the procedure and to document any symptoms in the chart. I've found that, when specifically asked, a significant number of these patients report cramps, bleeding, or both. Perhaps this reflects the fact that amniocentesis candidates are somewhat "high risk" to begin with.

In any case, genetic amniocentesis is associated with a fetal loss rate of approximately 1 in 200. If postamniocentesis fetal loss does occur, the devastated patient may not recall that she was actually having symptoms before the needle was inserted. In such cases, referring to a note in the chart that clearly documented symptoms before the procedure will reassure both you and your patient that the loss was probably unavoidable and unrelated to the amniocentesis.

* Favor the Foot, not the Face.

At times the very best fluid pocket is located near the fetal head, but I would opt for a pocket anywhere else, even if it is smaller and means going through the placenta. Why? Because even a very experienced physician occasionally sticks the fetus during amniocentesis.

Refraction limits our ability to know the precise location of the needle tip, and fetuses frequently move during the procedure. In most cases a needle stick does no harm to the fetus--recall that cordocentesis or percutaneous umbilical blood sampling is the intentional insertion of a needle directly into the fetal umbilical cord. The point to remember is that inadvertently sticking the fetus's leg or buttocks would clearly be far less risky than penetrating the eye or brain.

Inadvertent fetal skull penetration during genetic amniocentesis has been linked to porencephaly, the development of cysts or cavities in the fetal brain, yet another reason to "favor the foot, not the face."

* Lurking Lawyers Love Lost Labels.

Since it is common to schedule several consecutive patients for genetic amniocentesis on the same day, many specimens may be collected sequentially. But an assortment of amniotic fluid specimens contained in identical collection tubes can cause confusion if not handled with care.

The potential consequences of accidentally mislabeling amniotic fluid specimens are mind boggling. To avoid this potential medical and legal nightmare, be sure to label each tube immediately. Several sets of specimens sitting on a counter with the labels clipped to the charts but not yet applied to the tubes is a disaster waiting to happen. Also, as you slip the tubes into the envelope or container for transport to the lab, take a moment to make sure that the name on the lab slip matches the name on each of the tubes.

DR. BRUCE L. FLAMM is area research chairman and a practicing ob.gyn. at the Kaiser Permanente Medical Center in Riverside, Calif.

COPYRIGHT 2002 International Medical News Group
COPYRIGHT 2002 Gale Group

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