Biomedical subjects
Publications and source records attributed to R Straussberg.
In three young children a newly acquired clinical sign--the knee-chest position--was associated with increased intracranial pressure. This sign may serve as an additional marker to suggest increased intracranial pressure in young children.
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An eight-year-old boy developed acute parkinsonism four days after open-heart surgery for repair of a ventriculo-septal defect. During the procedure he experienced a hypotensive episode which required administration of positive-inotropic agents. Complementing the clinical signs of parkinsonism, CT scan showed symmetrical hypodensities in the basal ganglia, and decreased regional cerebral blood flow was demonstrated using 99mTc HMPAO SPECT. These findings were suggestive of a hypoxic-ischaemic insult to the basal ganglia. The child was treated with levodopa/carbidopa and subsequently completely recovered within a follow-up period of eight months. CT scan appearances and cerebral blood flow findings returned to normal. Parkinsonism secondary to a hypoxic-ischaemic insult to basal ganglia in children is a rare but reversible disorder, in contrast to its progressive course which results in severe disability in adults.
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BACKGROUND: Sudden onset of daytime urinary frequency of a small amount of urine in a previously toilet-trained child can be a disturbing problem. Psychosocial problems, problems at school, or problems within the family have to be taken into consideration. METHODS: Fifteen children with sudden onset of isolated daytime urinary frequency were evaluated and followed for a period of 12 to 18 months. A thorough medical and family history was obtained for each child, with special attention given to any psychosocial problems the child had experienced. All the children underwent a physical examination, complete urinalysis, and ultrasonography of the kidneys and bladder. RESULTS: In all of the patients, the urinalysis and ultrasonographic findings were within normal limits. A trigger factor was identified as the cause of urinary frequency in each case. CONCLUSIONS: Because urinary frequency is usually a benign self-limited condition, an extensive urological evaluation is not indicated. In most cases, providing reassurance to the parents and the child is the only intervention necessary.
A Sephardi Jewish family is reported in which the two brothers had mental retardation, lower limb spasticity and bilateral clasped thumbs anomaly. This X-linked recessive disorder has only been reported twice. We believe this syndrome comprises a distinct entity among the X-linked mental retardation syndromes.
A 5 1/2-year-old Sephardic Jewish girl, born of consanguineous parents, is described. She has short stature, microcephaly, conductive hearing loss, skin mastocytosis and microtia. Since this constellation of findings has not been reported previously, we think that these findings represent a new congenital malformation, most probably of genetic etiology.
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The element content of the fingernails of 10 term and 14 preterm infants, clipped for the first time after delivery, was determined by x-ray microanalysis. The results showed a decrease in sulfur and aluminum, and a higher chlorine content in term infants in comparison with preterm ones, the difference being statistically significant. Sodium, potassium, calcium, and zinc content did not differ in the two groups. Copper, iron, magnesium, aluminum, and phosphorus were detected in trace amounts only. Cobalt was not detected in the fingernails of newborns in either group. The elevated content of aluminum in the fingernails of preterm infants may be a clue to the osteopenia observed in these infants.
A rare case of squamous cell carcinoma of the pleura in association with tuberculosis is described. Concentration of 99mTc-methylenediphosphonate was demonstrated in the calcified pleural tumoral tissue. To the best of our knowledge, such concentration has not been previously reported. The possible etiological factors of this disease and findings are briefly discussed.
Benign paroxysmal torticollis in infancy is characterized by periods of torticollic posturing of the head. The onset of the episodes usually occurs during the first month of life and may recur at varying intervals until the age of 1-5 years. This appears to be a self-limited disorder. The follow-up of 7 patients with benign paroxysmal torticollis is presented.
Benign acquired isolated abducens nerve palsy in infants and children is a rare condition and recurrence is even less common. The diagnosis is essentially one of exclusion. Six children (1 male, 5 females) are reported with benign isolated abducens nerve palsy, ranging in age from 8 months to 12 years (median: 5.5 years). The left side was affected in all patients. Recovery occurred within 18-55 days, but 3 patients developed recurrence with complete resolution of symptoms within 10-21 days.
We report 17 novel mutations that cause profound biotinidase deficiency. Six of the mutations are due to deletions, whereas the remaining 11 mutations are missense mutations located throughout the gene and encode amino acids that are conserved in mammals. Our results increase the total number of different mutations that cause biotinidase deficiency to 79. These additional mutations will undoubtedly be helpful in identifying structure/function relationships once the three-dimensional structure of biotinidase is determined.
The amniotic fluid cells of 2 patients with rubella at the 18th week of pregnancy were obtained during therapeutic abortion and examined with a transmission and a scanning electron microscope (SEM). In comparison with amniocytes of healthy women, those of rubella patients showed marked alterations, consisting of lack of heterochromatin, almost complete disappearance of the electron-dense cytoplasmic layer and membrane changes. The membrane damage was clearly demonstrated by SEM and was expressed by a decrease in the number and size of microvilli. Although more experience is needed for evaluation of the ultrastructure of the amniotic fluid cells in rubella patients, these findings may serve as an additional tool for the intrauterine diagnosis of rubella.
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Upon examining two double first cousins who presented with a newly recognized partial alopecia syndrome, previously reported in one, we discovered that the two shared almost identical personalities. This prompted us to search the literature for other genetic syndromes which are characterized by distinct personality traits. The article reports on two affected members of a family with a syndrome associated with definite somatic and behavioral characteristics most probably transmitted as an autosomal recessive disorder.