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Washington University Experience | VASCULAR | Hypoxia-Ischemia, fetal-neonatal | Porencephaly | 9A0 Case 9 History
Case 9 Porencephaly ---- The patient was a 3 year old female with long standing severe psychomotor retardation consisting of microcephaly, spastic quadriplegia, myoclonic jerks all of which developed following extensive subcutaneous fat necrosis noted during the early neonatal period. Her past history began as a 6 lb. 8 oz. product of a G2P2 20 year old mother. Pregnancy was without difficulty. Labor was 9 1/2 hours with spontaneous rupture of membranes shortly before delivery. The amniotic fluid was meconium stained, but was not foul smelling. Delivery was vertex without difficulty and did not require the use of forceps. Immediately following delivery, the patient exhibited some labored respirations with poor color forcing immediate O2 therapy and the patient recovered. Shortly thereafter the baby developed woody, non-pitting edema over the posterior trunk which proved to be extensive fat necrosis of unknown etiology. The patient was eventually discharged to the care of her mother. At 9 months of age, the patient was evaluated at SLCH for mental retardation, spastic quadriplegia, microcephaly and myoclonic jerks. She had occasional clonic jerks that were apparently generalized and marked vertical and pendular nystagmus. Extensive laboratory investigation failed to find any abnormal values. CSF showed no cells and a protein of 28. Protein electrophoresis was also normal. Skeletal survey showed calcinosis universalis, secondary to fat necrosis. Skull x-rays revealed microcephaly with closure of the sagittal suture. Brain scan revealed patchy increased uptake over both cerebral hemispheres. EEG was severely abnormal due to diffuse slowing with hemispheral voltage asymmetry with higher voltage in the left fronto-temporal region and spiked slow waves diffusely, but most prominent over the left frontal temporal area. Cerebral angiography revealed markedly reduced caliber and diminished flow in both middle cerebral arteries. There was moderate ventricular dilatation. The patient had a static encephalopathy, but no etiology for this or for the fat necrosis in the neonatal period could be determined. The patient was given anti-convulsants for her seizure disorder and was discharged to the care of her mother. No further neurological work-up was performed subsequently. Terminally the patient was finally admitted because of pneumonia. An upper gastrointestinal tract radiologic examination revealed large megaesophagus with free gastroesophageal reflux without strictures. It was felt that pneumonia was on the basis of gastroesophageal reflux with aspiration and the patient was scheduled to have a surgical anti-reflux procedure after a course of treatment for her current pneumonia. She was, however, found unexpectedly dead in bed before the surgery was performed.
