Lissencephaly

Lissencephaly

Lissencephaly (pronounced: lih-sen-sef-uh-lee) is a rare, gene-linked brain malformation characterized by the absence of normal convolutions (folds) in the cerebral cortex and an abnormally small head (microcephaly).

Etymology

The term "Lissencephaly" is derived from the Greek words "lissos" meaning smooth and "enkephalos" meaning brain. It literally translates to "smooth brain".

Symptoms

In the usual form of Lissencephaly, children show severe psychomotor retardation, difficulty swallowing, failure to thrive, and muscle spasms or seizures. Some children may have abnormal facial features such as a small jaw, a high forehead, and a short nose with upturned nostrils.

Causes

Lissencephaly is commonly caused by mutations in the PAFAH1B1 (also known as LIS1) gene on chromosome 17 and the DCX (doublecortin) gene on the X chromosome. Other genes that can cause lissencephaly when mutated include TUBA1A, TUBB2B, TUBB, TUBG1, and ARX.

Diagnosis

Diagnosis of Lissencephaly is usually made at birth or shortly thereafter. It can be confirmed by a Computed Tomography (CT) scan or Magnetic Resonance Imaging (MRI) of the brain.

Treatment

There is no cure for Lissencephaly. Treatment is symptomatic and depends on the severity and locations of brain malformations. Supportive treatments may include physical therapy and measures to prevent complications such as pneumonia and other infections.

Prognosis

The prognosis for children with Lissencephaly varies depending on the degree of brain malformation. Many children with Lissencephaly will not survive past childhood, although some can live into their teens with proper care.

Related Terms

• Microcephaly
• PAFAH1B1
• DCX
• TUBA1A
• TUBB2B
• TUBB
• TUBG1
• ARX
• Computed Tomography (CT)
• Magnetic Resonance Imaging (MRI)

External links

• Medical encyclopedia article on Lissencephaly
• Wikipedia's article - Lissencephaly

This WikiMD article is a stub. You can help make it a full article.

---

Languages: - East Asian 中文, 日本, 한국어, South Asian हिन्दी, Urdu, বাংলা, తెలుగు, தமிழ், ಕನ್ನಡ,
Southeast Asian Indonesian, Vietnamese, Thai, မြန်မာဘာသာ, European español, Deutsch, français, русский, português do Brasil, Italian, polski