Rachischisis

Editor-In-Chief: Prab R Tumpati, MD
Obesity, Sleep & Internal medicine
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Rachischisis
Synonyms	Spinal dysraphism
Pronounce	N/A
Specialty	N/A
Symptoms	Paralysis, Hydrocephalus, Clubfoot, Anencephaly
Complications	Infection, Neurological deficits
Onset	Congenital
Duration	Lifelong
Types	N/A
Causes	Neural tube defect
Risks	Folic acid deficiency, Genetic factors
Diagnosis	Prenatal ultrasound, MRI
Differential diagnosis	Spina bifida, Anencephaly
Prevention	Folic acid supplementation
Treatment	Surgical repair, Supportive care
Medication	N/A
Prognosis	Variable, often poor
Frequency	Rare
Deaths	N/A

Rachischisis is a severe form of spina bifida in which the vertebral arches and neural tube fail to close, resulting in an open spinal column. This condition is typically evident at birth and can lead to significant neurological complications.

Etiology

The exact cause of rachischisis is unknown, but it is believed to be a combination of genetic and environmental factors. Some studies suggest a link between the mother's diet during pregnancy, particularly a deficiency in folic acid, and the development of neural tube defects like rachischisis.

Symptoms

The most obvious symptom of rachischisis is a visible opening in the spine at birth. Other symptoms can include neurological problems, such as paralysis and hydrocephalus, as well as issues with bladder and bowel control.

Diagnosis

Rachischisis can often be diagnosed before birth through ultrasound imaging. After birth, a physical examination of the newborn can confirm the diagnosis.

Treatment

Treatment for rachischisis typically involves surgery to close the spinal opening. This is usually performed within the first few days of life. Additional treatments may be needed to manage other symptoms and complications.

Prognosis

The prognosis for individuals with rachischisis varies widely. Some individuals may have significant physical and intellectual disabilities, while others may have relatively mild symptoms.

See Also

• Spina Bifida
• Neural Tube Defects
• Folic Acid

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