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Washington University Experience | VASCULAR | Hypoxia-Ischemia, fetal-neonatal | White Matter | 13A0 Case 13 History
Case 13 History ---- The patient was a 22 year old male with a complex past medical history who expired on 7/13 after suffering complications for two days from an upper GI bleed related to a jejunostomy feeding tube. His past medical history is significant for a long-standing neurologic illness initially diagnosed as a leukodystrophy of unknown etiology. The patient was born at 31 weeks gestation due to complications from severe Rh incompatibility. He had respiratory problems following birth which required resuscitation and mechanical ventilation. He was hospitalized at Stanford University in the neonatal ICU for approximately five weeks, and was discharged at two months of age. He had difficulties with feeding from the start and developmentally his milestones were delayed. He had minimal language function of several words somewhere between the ages of four and seven. He reportedly had multiple corrective surgeries including hamstring releases and other procedures due to his spasticity. He received a diagnosis of spastic cerebral palsy. He was able to attend special classes and reportedly did very well when he could communicate via 'yes' and 'no' types of answers. He was evaluated at age 16 years. He had lysosomal enzyme panels, all of which were reportedly negative. These included screens for GM1 gangliosidosis, alpha-mannosidosis, Tay-Sachs disease, metachromatic leukodystrophy and Krabbe's disease. In addition, screening for N-acetyl aspartate as well as a very long chain fatty acids levels were normal. A head CT was performed in 1991 and was notable for moderately enlarged lateral ventricles with a question of scalloping of the ventricular walls. The patient never had a brain MRI scan. His spasticity had progressively and slowly worsened. His feeding difficulties continued with severe dysphagia, and he had a jejunostomy tube for many years. He had bifacial weakness, roving eye movements, and he would blink to bright light with absent pupillary responses. His reflexes were brisk throughout with upgoing toes bilaterally. He had episodes of involuntary laughter, and as well he had recent documentation of autonomic instability with fluctuations in blood pressure, temperature, and pulse rate. He had been treated long term with a Baclofen pump. He had apparently been well until 7/11, at which time he experienced several episodes of nausea and vomiting with possible coffee ground hematemesis. Despite conservative treatment (given the patient's DNR status), he expired on 7/13 with complications from an upper GI bleed and volvulus. ---- Autopsy findings included a 1,170 gm brain with a large left periventricular cyst and markedly diminished white matter volume involving the posterior cerebrum and cerebellum. These findings were most consistent with a perinatal hypoxic/ischemic process. There is no evidence for a demyelinative process or metabolic disease.
