Patient #9, a five-month-old boy, presented with a two week history of "spells" which were described as "tightening up," eyes going up, and eyelids flickering. Following the episodes, the patient was noted to be less active. He was admitted to a local hospital with a presumptive diagnosis of infantile spasms. The patient was started on phenobarbital but the spells continued.
The child was born at full-term to a gravida 2 para 1 to 2 mother who was 24 years of age at the time of delivery. The only problem with the pregnancy was a flu-like illness in the first trimester characterized with upper respiratory tract symptomatology. She took over the counter cold medications, but no other medicines were given. At the time of delivery, the umbilical cord was wrapped around the child's neck, but there had been no signs of fetal distress and the child was active at birth. He went home with the mother the next day.
The patient's mother, who was currently pregnant, gave a history of migraine headaches. There was no family history of seizures. Family history was positive for a sleep disorder in a maternal uncle, adult onset diabetes, and heart disease in the mother's father. The parents both had high school level educations and the mother described herself as an A student.
Upon examination, the patient's vital signs were normal. Height was 62.7 cm (between the 10th and 25th percentile), weight was 6.17 kg (between the 10th and 25th percentile) and head circumference was 40.3 cm (less than the 2nd percentile for age). Head and neck examination revealed some mild brachycephaly, minimal micrognathia, and bitemporal hollowing. The neck was supple. Tympanic membranes were clear. Cardiac examination was normal. There was a small sacral dimple, but otherwise there were no skeletal abnormalities. There was no hepatosplenomegaly.
Mental Status: On neurologic exam, the patient was alert and active. At least two seizure episodes were noted during the examination. In the first seizure, the patient's eyes were deviated up and to the right and the eyelids twitched bilaterally. In the other episodes, the eyes went up and to the right and the patient stared. There was no fisting and no eye blinking. Following both episodes (which occurred within two minutes of each other), the patient fell asleep. Prior to these episodes and subsequently, the patient was visually inattentive as he had been at home. He did respond to sounds with an eye blink and a startle.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested |
| II | Pupils were 3 mm and reactive to light. Fundoscopic exam was normal. |
| III / IV / VI | Extraocular movements were full, and he had an oscillatory nystagmus bilaterally. |
| VII | Facial movements were symmetric to movement. |
| VIII | He did startle to loud sound. |
| IX / X | Gag reflex was normal and symmetric. |
| XII | Tongue appeared to be normal. |
Motor: He was hypotonic throughout. The hypotonia was more prominent in the proximal musculature and his neck control was very poor for his age. Movements of extremities were symmetric.
Reflexes: Reflexes were present measuring 2+ bilaterally.
Sensation: Response to pain was normal.
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