Clinicopathologic conference: Neurologic dysfunction in a premature infant
Autor: | Glen A. Fenton, Anantha N. Manepalli, Carole Vogler, David S. Brink, Akihiko Noguchi |
---|---|
Rok vydání: | 2002 |
Předmět: |
Pediatrics
medicine.medical_specialty Tongue atrophy Weakness Möbius syndrome medicine.diagnostic_test business.industry Infant Newborn Infant Premature Diseases Electromyography medicine.disease Pregnancy Pediatrics Perinatology and Child Health Magnetic resonance imaging of the brain medicine Humans Hypertonia Female Brainstem Nervous System Diseases medicine.symptom business Exotropia |
Zdroj: | The Journal of Pediatrics. 140:110-115 |
ISSN: | 0022-3476 |
Popis: | deviation of both eyes, absent oculocephalic responses, marked bifacial weakness, absent corneal reflexes, and bilateral tongue atrophy, as well as persistence of the previously noted hypertonia. Laboratory evaluation included normal computed tomography and magnetic resonance imaging of the brain. Sequential electroencephalogram examinations were appropriate for age, except for 1 study that showed a less mature pattern than expected. Electromyography and nerve conduction studies were normal. Ophthalmologic examination showed immature retina in zone 2 and exotropia. Brainstemevoked potentials performed between 11 and 12 weeks showed no transmission through the brainstem. Karyotype was normal female (46,XX). Because of the striking impairment in brainstem function, the diagnosis of Mobius syndrome was considered. The infant’s condition did not improve during a 3-month period. The neurologic condition was considered fatal regardless of underlying cause, and, after consultation with the infant’s parents, life support was withdrawn. The infant died at approximately 3 months of age. An unrestricted postmortem examination was performed. |
Databáze: | OpenAIRE |
Externí odkaz: |