what is wrong?
Our patient had holoprosencephaly. This is a developmental abnormality where the embryo fails to develop into two hemispheres. The prosencephalon refers to the forebrain of the embryo and develops in the fifth week of pregnancy along with the face. Most cases are not compatible with life and result in death in utero In less severe cases, babies are born with facial deformities affecting the eyes ,nose and upper lip. Some cases result in normal facies with an absent falx and/or corpus callosum. The cause is not known but mutations in the gene encoding the Sonic Hedgehog protein which directs the development of the central nervous system can cause holoprosencephaly.
Our patient had abnormal brain development with normal facies. He had cervical spondylosis with myelopathy and was tetraplegic. He had congenital hydrocephalus requiring a VP shunt at birth, an occipital encephalocele and seizures. He was 36 years old and cared for by his mother at home.
He came in with a complaint of SOB and tachycardia, PE protocol was negative and his tachycardia was attributed to cholecystitis with a sludge filled gallbladder.
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3. Muenke, M, Beachy P. june 2000 Genetics of ventral forebrain development and holoprosencephaly. Current Opinon in Genetics & Development 10(3) 262-9. Doi 10.1016/s0959-437x(00)00084-8.