Patricia L. Monteleone

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.

Ultrastructural studies in late-onset amauroticidiocy: Lymphocyte inclusions as a diagnostic marker

Light and electron microscopic studies have been carried out on brain and white bloodcells from a patient with juvenile amaurotic idiocy. A variety of lipid inclusions, including both “multilamellar cytosomes” and “fingerprint” inclusions, were present in the brain, suggesting that these 2 morphologic types of inclusions may not always define separate metabolic disorders. In the lymphocytes, ultrastructurally striking lamellar cytoplasmic inclusions were found. Such inclusions have not previously been described in this disorder. The demonstration of these inclusions by electron microscopy may prove to be a distinctive and relatively simple diagnostic marker of the disease, or at least of the “type” of late-onset amaurotic idiocy present in this patient.

Possible X-linked congenital heart disease.

Four male members of a family are known to have congenital mitral and aortic insufficiency, a fifth male has congenital mitral insufficiency only, and a sixth male had congenital heart disease by history. The involved males comprised all males in three generations of this family. Chromosomal and dermatoglyphic studies of the two living affected males are normal.The involvement of males in this family is best explained on the basis of X-linked recessive inheritance. To our knowledge, this is the first report of possible X-linked inheritance of isolated congenital heart disease.

Bilateral neonatal Wilms' tumor with B-C chromosomal translocation

A working copy of the discharge form is included in the chart of each pediatric patient at the time of his admission to the hospital. Problems which are present at the time of admission are immediately entered. New problems are entered as they alirpear. At the time of discharge, the form is completed by the house officer, then reviewed and counter-signed by the attending physician. The summary is then transported to the record room, typed, and returned within 24 hours to the unit secretary. The secretary is responsible for obtaining signatures of the house officers and attending physicians and for mailing summaries to the appropriate physicians. A small card (Fig. 2) is sent along with the discharge summary to the referring physician. This card may be returned if the physician wishes photocopies of additional portions of the hospital chart. Our new system has now been employed for a period of 15 months. It has been viewed favorably by house officers, faculty, and the referring physicians. Only seven requests for additional information have been received during the past year. In order to assess the efficiency of the new system, the number of charts awaiting summary at the end of each month for the period March, 1973, to February, 1974, was compared with the same period in 1972-1973. A total of 662 charts had not been summarized in the year 1972-1973, while only six had not been completed in the year 1973-1974. Other approaches to the problem may work equally well. We have been pleased with the efficiency of this particular approach and the satisfaction it has engendered on the part of both the sender and the recipient.

Type II Arnold-Chiari Malformation with Normal Spine in Trisomy 18

SummaryA variety of anomalies of the central nervous system are observed in trisomy 18. The present case describes an infant having a type II Arnold-Chiari malformation without spina bifida. One previous case of an Arnold-Chiari malformation was reported in trisomy 18 but that infant also had a lumbar meningomyelocoele. Abnormalities of cerebral gyration, hydrocephalus, and agenesis of the corpus callosum were also found in the present case.

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.

Fatal Aortic Rupture Presenting as Chest Pain in an Adolescent: The Role of Echocardiography in Occult Cystic Medial Necrosis

An adolescent female with occult cystic medial necrosis died following spon taneous aortic rupture. A large saccular aortic aneurysm that had ruptured into the pericardial space was demonstrated by two-dimensional echocardiography and confirmed at surgery. Echocardiographic screening of the patients family members revealed a 13-year-old brother with unsuspected aortic root dilatation. He is now being followed for possible progression of his disease. This case demonstrates the role of echocardiography in cystic medial necrosis. It can aid the acute management of patients with aortic dissection or aneurysm. It can also define patients with occult disease who require serial follow-up and genetic counseling.

Congenital Acute Nonlymphoblastic Leukemia with Translocation (9;18)

Chromosome analysis is becoming an increasingly important tool in the diagnosis and treatment of childhood malignancies. This report illustrates a new translocation t(9;18) in a neonate with congenital acute nonlymphocytic leukemia, which predicted a bone marrow relapse in a normal appearing bone marrow.

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.

Genetics Review : Modern Cytogenetic Technics Clinical Review of Chromosomal Analyses in a Children's Hospital

Chromosomal analysis is a valuable tool for diagnosis of anomalies, in pedigree analysis and interpretation, and in genetic counseling. In this report we review the findings in 600 patients studied over a one-year period at Cardinal Glennon Memorial Hospital for Children in St. Louis.