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.

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.

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.

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.

Fragile X syndrome: associated neurological abnormalities and developmental disabilities.

The fragile X syndrome is a frequent cause of developmental disabilities. It is associated primarily with nonprogressive X-linked mental retardation. The neurodevelopmental abnormalities of 25 males and 3 females are described. Mental retardation was mild in 4, moderate in 11, severe in 6, and profound in 2 patients, while 4 patients had only learning disabilities. The presence or absence of a developmental disability could not be determined in the youngest (8 months). Seven patients had had infantile autism and 7 had epilepsy. Generally no major focal neurological abnormalities were observed but most of the patients exhibited minor signs. The severity of developmental disabilities in our patients varied between and within families and between genders. All adult males had macroorchidism. Unusual facial features were present in 13 males but none were seen in the females. Familial occurrences were found in 18 cases (64%); 10 cases (36%) were sporadic. Overall, males were more severely affected than females. Diagnostic tests including computed tomographic scans, electroencephalograms, and evoked potentials did not disclose any specific abnormalities.

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.

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.

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.

Postnatal taurine deficiency in the kitten results in a persistence of the cerebellar external granule cell layer: correction by taurine feeding.

Dietary deprivation of taurine in pregnant cats from approximately 1 week prior to giving birth is sufficient to reduce substantially the taurine concentration in feline milk but does not result in any abnormalities in kittens at birth. Kittens nursing on this low taurine milk have a lower growth rate than normal, have lower tissue taurine concentrations, and 8 weeks after birth have a persistence of cells in the cerebellar external granule cell layer. Mitotic figures are present also, indicating that cell division is occurring still, an event which normally is completed 3-4 weeks after birth. Daily oral supplementation with 40 mumoles taurine increases the growth rate almost to the level of normally nurtured kittens and results in normal tissue taurine concentrations and apparently normal migration of cells in the cerebellum. These findings indicate that nutritional taurine supplied in the milk is involved in the normal ontogeny of the cerebellum and that a taurine deficiency at this stage of development results in a maturational delay.

Taurine deficiency in the developing cat: persistence of the cerebellar external granule cell layer.

Dietary taurine deprivation adversely affects feline pregnancy and is associated with the frequent occurrence of fetal resorption, abortion, stillbirth, and low birthweight of live kittens at term. Taurine-deprived, live-born kittens have a poor postnatal survival rate and grow less well than kittens from taurine-supplemented queens. The postnatal dietary taurine intake of such kittens is reduced if they are nursed by their biologic mothers; the concentration of taurine in milk of taurine-deprived mothers is less than 10% of that in milk from taurine-supplemented queens. Surviving kittens from taurine-deprived mothers exhibit a constellation of neurological abnormalities (abnormal hind leg development, a peculiar gait characterized by excessive abduction and paresis, and thoracic kyphosis readily visible by X-ray). These findings suggest the presence of a developmental cerebellar deficit. Histological examination of the pre- and postnatally taurine-deprived kitten's cerebellum reveals a persistence of the external granule cell layer, which was confirmed by electron-microscopic examination. Numerous mitotic figures are present in the cells in the external granule cell layer of the cerebellum of kittens born from the nursed by taurine-deprived queens, but not in those from taurine-supplemented mothers. These findings suggest a maturational delay.

Ultrastructural, neurological, and glycosaminoglycan abnormalities in lowe's syndrome.

The oculocerebrorenal syndrome (OCRS), Lowe's syndrome, is an X-linked, recessive disease characterized by mental retardation, congenital corneal abnormalities and cataracts, growth failure, rickets, osseous abnormalities, renal dysfunction with periodic acidosis, hypotonia, and areflexia. Ultrastructural studies of skin biopsy specimens in three individuals with the disorder (aged 17, 9, and 8 years) revealed cytoplasmic, membrane-bound, electron-lucent vacuoles and some electron-dense membranous inclusion bodies in fibroblasts and Schwann cells, as well as axonal degeneration and vascular changes. Computed tomographic scans evidenced brain atrophy. Urinary excretion of glycosaminoglycans (GAG) was four to five times greater than in normal controls. The predominant urinary GAG was a low-sulfated chondroitin-4-sulfate; chondroitin-6-sulfate and heparan sulfate excretion levels were normal. A tenfold increase in urinary GAG excretion was found in one patient with oculocerebrorenal syndrome during periods of behavioral agitation. These findings suggest that the clinical stigmata of oculocerebrorenal syndrome may be related to a defect in GAG metabolism.

Magnesium therapy in massive digoxin intoxication.

A potentially fatal case of massive digitalis intoxication is presented. Recurrent ventricular fibrillation failed to respond to lidocaine or phenytoin, but responded dramatically to magnesium sulfate infusion. A review of the literature and previous clinical studies, as well as the case reported here, appears to indicate that magnesium sulfate given intravenously in adequate quantities (2 to 3 g in one minute followed by 2 g/h for 4 to 5 h) is effective in controlling ventricular irritability caused by toxic levels of digitalis preparations.

Low sulfated glycosaminoglycans are excreted in patients with the Lowe syndrome.

Glycosaminoglycans (GAGs) were prepared from the urine of three patients and from normal individuals by cetylpyridinium chloride precipitation and Pronase digestion. The GAGs were analyzed by electrophoresis, anion-exchange chromatography, and enzymatic and chemical degradation. Each of the three patients showed a four- to fivefold increase in urinary GAG excretion compared to normal controls and in one patient a tenfold increase was measured during a period of behavioral agitation which included joint swelling. Urinary GAGs from affected individuals were characterized by a high proportion of low sulfated molecules. The predominant low sulfated component was chondroitin-4-sulfate (C4S); however, small amounts of chondroitin-6-sulfate (C6S) were also present. Heparan sulfate (HS) was present in normal proportion (5-10%) and most of it was not low sulfated. Abnormal excretion of chondroitin (Ch), hyaluronic acid (HA), and dermatan sulfate (DS) was not detected. These findings suggest that the clinical manifestations of Lowe syndrome may be caused by a defect in GAG metabolism.

Atypical Down syndrome and partial trisomy 21.

A case of "atypical" Down Syndrome (DS), where the proposita did not exhibit all of the clinical features of DS and had de novo partial trisomy 21, was studied. Results from phenotypic, chromosome banding and superoxide dismutase (SOD) gene dosage studies suggest a karyotype of 46,XX,-12,+t(12pter to 12qter::21q21 to 21q22.?2). Additional studies of such atypical cases will provide more precise sublocalization for both gene and phenotypic mapping of the bands that are responsible for the DS phenotype.