Case Study
A 26-year old female prematurely delivers a baby girl after a 34-week pregnancy. The infant presents with APGAR scores of 6 and 9 at 1 and 5 minutes. The child weighs 6 pounds and is 21 inches long. Immediately the doctors notice several dysmorphic features, including bilateral auricular deformity (low-set ears), mask-like facies, micrognathia (undersized jaw), and bilateral clubfoot. Family history of congenital malformations was negative and the mother had not been exposed to any teratogens during the pregnancy. The baby was delivered prematurely by cesarean section. Neurology and genetics counseling were obtained. At 3-years old, the girl presents again to the doctor with a mask-like appearance, inability to smile, and ocular adduction. She also seems to exhibit asymmetry of facial expression, anomalies of fingers and tooth decay. Neurological examination reveals an expressive face with an inability to move her facial muscles. She also has bilateral difficulty in laterally moving her eyes. It was noted that bilateral 6th and 7th cranial nerve deficits were present. Hypotonia was exhibited around the shoulders with little hypotonia in the lower extremities. Eyelid closure upon sleeping was normal. MRI imaging showed an abnormal configuration of the brain stem, especially the pons, which appeared to have some calcification particularly in the region of the 6th and 7th cranial nerves. No cerebellar hypoplasia or atrophy was noted. Facial and auditory nerve function were evaluated using EMG, blink reflex test, and auditory brainstem response. Upon inspection, CT revealed an absence of the facial nerve canal in the middle ear. Some speech difficulties were also observed, along with drooling and strabismus.
So what exactly is happening in this patient? Explore and you can find out!
So what exactly is happening in this patient? Explore and you can find out!
References
- What is Moebius Syndrome? (2007). Retrieved April 21, 2013, from Moebius Syndrome Foundation website http://www.moebiussyndrome.com/index.cfm?objectid=48F93851-BEFB-4468-999417A599ABAB5D