Fine structure of the cerebellar cortex in Menkes Kinky-hair disease. X-chromosome-linked copper malabsorption.

The cerebellar cortices in two patients with X-chromosome-linked copper malabsorption (Menkes kinky-hair disease) were examined with both the light and electron microscope. Somatic sprouts and grotesque dendritic arborization were among the obvious light microscopical changes. At the fine structural level, the Purkinje cells were characterized by the presence of somatic spines although the surviving granule cells had already descended. Most spines were parts of synaptic complexes, but some were unattached to any presynaptic element. Similar spines were also observed on dendritic trunks. Astrocytic gliosis and nonspecific endothelial cell changes were noted.

Seizure activity and anticonvulsant drug concentration.

Current methods permit frequent, accurate serum anticonvulsant drug concentration measurements and continuous, 24-hour electroencephalographic recording with minimal environmental restriction. These techniques were used to perform longitudinal, 24-hour recordings of electroencephalographic paroxysmal activity and sleep-wake state concurrently with frequent measurements of serum anticonvulsant drug concentrations in two patients with poorly controlled convulsions. Drug administration was designed with the intent of producing high serum concentrations at times of maximum electroencephalographic paroxysmal activity. The suppression of clinical seizures coincided with decreased numbers of paroxysmal bursts in the electroencephalogram and increased serum anticonvulsant drug concentration.

The electroencephalogram in childhood basilar artery migraine.

In two pediatric patients with the clinical picture of basilar artery migraine, transient electroencephalographic disturbances were seen. Both children manifested posterior rhythmic delta activity in close temporal proximity to their attacks. Resolution of these abnormalities was documented by serial electroencephalographic tracings. These electroencephalographic findings are consistent with transient dysfunction in the neural structures supplied by the basilar artery and its branches. Pediatric patients in whom there is a clinical picture of basilar artery migraine and who have a family history of migraine and transient electroencephalographic changes of the type herein described need not undergo invasive neurodiagnostic study.

A profile of cognitive deficit in females from fragile X families.

Fragile X, a recently discovered X-linked syndrome, is usually associated with mental retardation in affected males. Less consistent findings have been described for females. neuropsychological evaluation of seven nonretarded females from fragile X families suggested a characteristic profile: on Wechsler IQ tests, a positive Verbal-Performance score difference and lower subtest scaled scores on Arithmetic, Digit Span, Block Design, and Object Assembly; on the Wide Range Achievement Test, a lower score on Arithmetic than on Reading or Spelling; and on the Benton Visual Retention Test, defective recall. These results suggest the existence of X-linked learning disability in females.

Basilar artery migraine in young children.

Eight children with recurrent attacks of neurologic dysfunction referable to the brainstem and cerebellum are reported. The episodes occur suddenly, clear completely, and leave the patient without residua. The most frequent signs are ataxia, alternating hemipareses, and vertigo. The majority of patients are girls, and most have the onset of the condition prior to the age of 4 years. Headache was definitely present in three children, and possibly present in four. A striking history of migraine was found in seven families, accounting for 16 affected relatives. Fifteen of these were female and 14 were on the maternal side. Follow-up of the children has not provided any evidence for progressive neurologic disease. The patient followed for the longest period of time has developed classic migraine.

The use of muscle flaps in the repair of aortic defects.

The successful repair of an infected arterial anastomosis is often hampered by the need to leave prosthetic material at the site of infection. To determine whether an aortic defect could be repaired by direct closure with a muscle flap, thereby eliminating the need for prosthetic material, we subjected 33 young pigs weighing 17 to 19 kg to a left lateral thoracotomy under sterile conditions. An aortic defect 2 cm in diameter was created in the descending thoracic aorta just distal to the origin of the left subclavian artery. In one group (n = 11), this defect was patched with a freshly harvested but devascularized segment of chest wall muscle. In another group (n = 22), the aortic defect was patched with a vascularized chest wall muscle flap. Pigs were followed for up to 12 weeks and evaluated by arteriography and postmortem examination. There were no deaths or vascular complications attributable to the muscle flap repair in any pig. Pseudointimal formation began within 24 hours postoperatively and was of comparable thickness to the original arterial wall by 12 weeks. No aneurysmal changes were noted in any animal, and normal aortic luminal dimensions were preserved despite a tripling in mean body weight over the 12 week period. The loss of flap viability appeared to offer no threat to vascular integrity, as the free muscle patches, although undergoing cell necrosis and substantial remodeling, remained intact. These results demonstrate the short-term feasibility of using viable muscle flaps to patch aortic defects in situations wherein the use of prosthetic material would be undesirable.

Functional consequences of prenatal exposure to lead in immature rats.

Long-Evans dams were given 0.5% lead acetate as their sole drinking solution two weeks before and throughout pregnancy. Their offspring were transferred to normal surrogate dams on the second day after birth. From days 5 through 30, the rat pups were observed for the appearance of developmental landmarks and given behavioral tests (surface righting, negative geotaxis, eye opening, left-right position discrimination and reversal, ambulation and head dipping). Pups of pair-fed-and-watered as well as normal control dams were also transferred to surrogates and received the same tests. Although the lead-exposed rat pups had markedly elevated blood and brain lead on the day of birth (which were still significantly elevated on day 16), they showed no delay, impairment, or any other change on the various functional measures.

Vertebrobasilar occlusion complicating nonpenetrating craniocervical trauma in a child.

We report a juvenile patient who developed vertebrobasilar occlusion following nonpenetrating head and neck trauma, with complete recovery. The patient presented with transient signs of brain-stem dysfunction that were secondary to embolization and/or extension of a thrombus. He was treated with anticoagulants. We have found no other reports of such treatment in juvenile vertebrobasilar occlusion that complicated nonpenetrating head and neck trauma.

Midface fractures: advantages of immediate extended open reduction and bone grafting.

Experience with 240 midface (Le Fort and zygoma) fractures in multiple trauma patients has emphasized that superior aesthetic results are obtained by immediate extended open reduction with primary bone grafting. Internal fixation of 110 zygomatic and 130 Le Fort fractures was performed in the lower midface (zygomaticomaxillary and nasomaxillary buttresses). Open reduction of the condyle was employed in five concomitant Le Fort and subcondylar fractures with a loss of ramus height to prevent superior and posterior displacement of the middle and lower face. Bone grafts were utilized in 74 patients. They were most frequently employed in the orbit and less frequently in the lower midface. Bone graft survival paralleled that observed under elective conditions, and a slightly higher infection rate was observed. Extended open reduction and immediate bone grafting adds a new dimension to the aesthetic results obtained from facial fracture treatment. Structural bony integrity and pre-injury facial architecture may be restored in the absence of soft-tissue contracture. Restoration of the pre-injury facial architecture (the essence of facial fracture treatment) is more accurately accomplished when these techniques are utilized.

Neonatal pneumoperitoneum of uncertain etiology.

This article describes a case of pneumoperitoneum in a newborn who had no evidence of an associated pulmonary air leak.

Polymicrobial polyfocal osteomyelitis and polymicrobial urinary tract infection in sickle cell disease--a case report.

Salmonella osteomyelitis is a well-known association of patients with sickle cell disease. This case report describes an infant with osteomyelitis having multiple foci and two pathogens including Salmonella and Staphylococcus aureus who was treated successfully. An additional unusual feature included urinary tract infection.