James A. Monteleone

Position Paper on Fatal Abusive Head Injuries in Infants and Young Children

This article represents the work of the National Association of Medical Examiners Ad Hoc Committee on shaken baby syndrome. Abusive head injuries include injuries caused by shaking as well as impact to the head, either by directly striking the head or by causing the head to strike another object or surface. Because of anatomic and developmental differences in the brain and skull of the young child, the mechanisms and types of injuries that affect the head differ from those that affect the older child or adult. The mechanism of injury produced by inflicted head injuries in these children is most often rotational movement of the brain within the cranial cavity. Rotational movement of the brain damages the nervous system by creating shearing forces, which cause diffuse axonal injury with disruption of axons and tearing of bridging veins, which causes subdural and subarachnoid hemorrhages, and is very commonly associated with retinal schisis and hemorrhages. Recognition of this mechanism of injury may be helpful in severe acute rotational brain injuries because it facilitates understanding of such clinical features as the decrease in the level of consciousness and respiratory distress seen in these injured children. The pathologic findings of subdural hemorrhage, subarachnoid hemorrhage, and retinal hemorrhages are offered as “markers” to assist in the recognition of the presence of shearing brain injury in young children.

Cataracts, galactosuria and hypergalactosemia due to galactokinase deficiency in a child. Studies of a kindred.

Abstract A nine year old girl with galactosuria, galactosemia and cataracts is described. She was found to have galactokinase deficiency. A large kindred was studied in detail and the disease was found to be autosomal recessive. In addition it is shown that carriers might be affected with cataracts early in life; for this reason we suggest that carriers adhere to a galactose-restricted diet.

Human papillomavirus screening in pediatric victims of sexual abuse.

Objective. To evaluate for the presence of subclinical human papillomavirus (HPV) in cases of suspected sexual abuse in children. Design. Prospective data collection via interviews, physical examination, colposcopic examination, and tissue sampling by a surface swab technique. Setting. A total of 40 pediatric patients ranging in age from 1 to 16 years who were referred to the Special Assessment and Management Clinic at Cardinal Glennon Childrens Hospital, St Louis, MO, for probable or confirmed sexual abuse. Interventions. In addition to colposcopic examination for physical signs of abuse, the patients were screened for evidence of sexually transmitted diseases, including syphilis, gonorrhea, andChlamydia. At that time, surveillance sampling of the throat, vaginal introitus, and/or rectum by a simple, rapid surface swab technique was performed to detect the presence of HPV. Measurements. Template DNA was extracted from cotton swabs and analyzed using polymerase chain reaction analysis. Results. Human β-globin sequences were detected in 58 (83%) of 70 specimens obtained from 40 patients, indicating successful processing had occurred. Using a consensus L1 primer-probe set capable of detecting multiple HPV genotypes, 2 (3%) of 58 samples from 2 (5%) of 40 patients were positive for HPV 16. None of the other 56 specimens yielded evidence of HPV. Appropriate positive and negative controls were included in each assay. Conclusions. Our results suggest that subclinical HPV infection is possible, but not commonly associated with sexual abuse in children from St Louis, MO. In this group of children without condyloma, HPV 16 was the only type identified.

Differentiation of chronic lymphocytic thyroiditis and simple goiter in pediatrics

Eighty-one children with goiter were studied. Thirty-five had open biopsies and 23 of these patients had one or more simultaneous needle biopsies. In the remainder, the diagnosis was made by clinical and laboratory findings. Of 35 biopsied patients, the histologic diagnosis was chronic lymphocytic thyroiditis (CLT) in 22 and simple goiter in 13. Needle biopsy proved inadequate for diagnosis in 40 per cent. In biopsied patients, thyroid antibody studies by the tanned red cell technique were positive with a titer of 1:16 or greater in only a few cases of CLT. An immunofluorescent technique revealed antibodies in 100 per cent of cases of CLT and was negative in all cases of simple goiter. A difference between protein-bound iodine and thyroxine >2.0 μg per cent was found in almost as many cases of simple goiter as in CLT. Clinical and laboratory findings are reported for the entire group of 81 patients.

Pseudoprecocious puberty associated with isolated follicular cyst of the ovary

Abstract In 1964, steiner and hadawi 1 reported three new cases and reviewed 13 others from the literature of single isolated follicular cysts of the ovary, with precocious puberty. All patients had elevated urinary estrogen levels with normal urinary gonadotropins. We report a 2-yr-old girl with pseudoprecocious puberty associated with an isolated follicular cyst of the ovary, in whom plasma gonadotropin levels were obtained before and after operation and 6 mo after.

453 SALT WASTING WITH POSTERIOR URETHRAL VALVES

Clinical manifestations of posterior urethral valves (PUV) may vary widely. Biochemical abnormalities have not been emphasized. Seven male infants (mean age 6 weeks, range 9 days to 6 months), seen over a ten year period, presented with laboratory evidence of salt wasting suggesting adrenal insufficiency. Admission sodium, potassium, BUN, creatinine, serum pH, and urine pH and specific gravity were recorded. When available simultaneous urine and serum electrolytes were noted. In all cases PUV were confirmed by voiding cystourethrogram. The mean sodium on admission was 117 ± 11 mEq/L (range 95-127) while the mean potassium was 7.9 ± 1.3 mEq/L (range 6.5-9.6). The BUN and creatinine were 76 ± 42 mg/dl (range 27-136) and 3.7 mg/dl (range 2.2-5.8) respectively. The mean specific gravity of the urine was 1.007 ± .004 (range 1.005-1.017). In four patients simultaneous serum and urine electrolytes were determined. The mean serum sodium was 132 while the mean urine sodium was 9.25 mEq/Kg/L. All of the patients manifested an impaired ability to conserve water and sodium. In addition, an impaired ability to excrete acids into the urine resulted in acidosis and hyperkalemia. The sodium, potassium, water and acid imbalance is not due to aldosterone deficiency but reflects a glomerulus-tubular dysfunction.Infants presenting with hyponatremia and hyperkalemia who have a very high BUN should have a urethral catheter implaced and a diagnosis of PUV ruled out.

Elongated short arm of a G-group chromosome associated with similar phenotypic abnormalities in three patients*

Summary Three patients with clinical features of small gonads, small phallus, behavioral problems, and obesity are reported. Cytogenetic studies revealed an elongation of the short arm of one of the G-group chromosomes. It would appear that this elongated number 21 chromosome is not a simple Mendelian trait since the parents and siblings of our patients have normal acrocentric chromosomes. There-fore, it is most important for genetic counseling that this abnormal chromosome be distinguished from others reported.

Chromosomal analysis of cultured skin fibroblasts from patients with infectious mononucleosis

In the present study, skin fibroblasts and leukocyte cultures from patients with acute infectious mononucleosis were examined to determine if any in vitro marker chromosomes could be detected. No alterations in chromosomes could be found in fibroblasts either from the region of the typical rash or from other areas of skin. This would tend to suggest but does not necessarily prove that this tissue was not extensively involved in the disease process.