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Anencephaly
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Holoprosencephaly
Syringomyelia
Tonsillar herniation
Ventricular dilation
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This patient who was born with cleft lip/palate, cutis aplasia, rocker bottom feet, polydactyly, and an omphalocele most likely has Patau syndrome. This condition is associated with holoprosencephaly. Patau syndrome is a genetic chromosomal abnormality caused by trisomy of chromosome 13. Patients suffer from severe developmental disability due to holoprosencephaly, a brain malformation where the brain does not divide into halves. Patients also often have cardiac anomalies such as patent ductus arteriosus and septal wall defects. Together, these abnormalities usually result in death within the first year of life. Physical exam will reveal cleft lip or cleft palate, cutis aplasia on the scalp, rocker-bottom feet, polydactyly, omphalocele, hernias, neural tube defects. There is no cure for this disease though prenatal screening with amniocentesis and cytogenetic testing can detect the disease prior to birth. Khan et al. present a case of Patau syndrome associated with cardiac and neurologic abnormalities. They discuss how the prognosis for these patients is very poor. They recommend prenatal screening and counseling in order to ensure parents are aware of the implications of this disease. Incorrect Answers: Answer 1: Anencephaly is caused by the failure of the anterior neuropore to close resulting in failure of the brain and calvarium to form. This condition is often isolated but patients with this condition are not viable. Answer 3: Syringomyelia is when the central canal of the spinal cord enlarges due to the formation of a fluid-filled cyst. This presents with a "cape-like" loss of pain and temperature sensation and is associated with Arnold-Chiari malformation type 1. Answer 4: Tonsillar herniation is when the cerebral tonsils are displaced through the foramen magnum resulting in hydrocephalus due to aquadeuctal stenosis. This presents with respiratory depression and is associated with Arnold-Chiari malformation type 2. Answer 5: Ventricular dilation can occur in patients with Dandy-Walker syndrome due to decreased formation and small size of the cerebellum. This condition would present with balance abnormalities and spinal cord malformations such as spina bifida. Bullet Summary: Patau syndrome presents with holoprosencephaly, cleft lip/palate, cutis aplasia, rocker bottom feet, polydactyly, and an omphalocele.
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