Morphologic contribution to a progeria syndrome (Hutchinson-Gilford) (author's transl)

Report of necropsy findings of a 17 years old girl with a progeria syndrome. There was a high degree of generalized atherosclerosis, involving the visceral arteries, chiefly those to the kidneys. The patient died of nephrosclerosis with uraemia. The aetiology of progeria syndrome remains obscure, single findings (lipoprotein- and amino-acid metabolism) may be understood as an inborn error of metabolism.     

Hand-foot-uterus-(HFU) syndrome with hypospadias: the hand-foot-genital- (HFG) syndrome

Three brothers with the typical findings of the HFU-syndrome, but in addition with various degrees of hypospadias are reported. The family history otherwise was negative. The similarity of the "pattern-profile" of these cases with the mean pattern of the 11 previously reported ones is striking, as expressed by a product moment correlation of 0.83, 0.8 and 0.78 respectively. The widening of the concept of the HFU to that of a HFG-syndrome, as suggested by Poznanski et al, in 1974, is discussed.     

An unusual presentation of Fitz-Hugh-Curtis syndrome

A case of Fitz-Hugh-Curtis syndrome masquerading as a perforated peptic ulcer is presented. The pathophysiology, clinical presentation, differential diagnosis, and management of this syndrome are discussed.     

Distal 10q trisomy syndrome with unusual cardiac and pulmonary abnormalities

AIM: To evaluate the use of local transdermic anesthetics in fine needle aspiration biopsy (FNAB) in breast lesions. METHODS: Prospective randomized study of 119 patients having breast lesions, all being indicated for FNAB. The patients were divided into three groups: 40 patients entered in the active group (lidocaine + prilocaine); 40 patients underwent the placebo group (aqueous extract of Triticum vulgaris); and a control group of 39 women in whom FNAB was performed without the administration of any substance. Both the anesthetic and placebo were administered an hour before FNAB. Pain was quantified through a visual analogic scale of pain. The type of pain was also classified in terms of occurrence: only during the puncture, only during the movements and both. RESULTS: The visual linear analogic scale of pain showed an average of 3.3 in the active group, 3.5 in the placebo and 4.0 in the control group (NS). Analysis of the type of pain which was referred by the patient showed that 15% of the patients in the active group, 12.5% of those in the placebo group and 5.1% in the control group did not refer to any sensation of pain. Pain, when felt, was similar in all three groups (p < 0.4). CONCLUSIONS: Both the quantification and the type of pain referred to were similar in all three groups. However, there was a tendency of the patient to refer to less pain when the active substance or the placebo were used, when results were compared to the control group.     

The Fitz-Hugh-Curtis syndrome, an unusual presentation

The Fitz-Hugh-Curtis syndrome consists of adnexitis combined with perihepatitis. Prompt therapy with adequate antibiotics is required to prevent damaging complications. We describe a young woman with an unusual presentation, leading to initial confusion about the proper diagnosis.     

An unusual cause of thoracic outlet syndrome

In an adult with severe dysphagia, diagnosis of aneurysmal aberrant subclavian artery was suspected on computed tomogram; no vascular ring was visible on arteriogram. A diverticulum of the aortic isthmus was surgically resected. Histologic analysis ruled out acquired disease. In conclusion, dysphagia related to esophageal compression may be caused by an isolated congenital aortic diverticulum.     

Tracheobronchiomegaly (Mounier-Kuhn syndrome)

Tracheobronchiomegaly is a rare congenital disorder due to defective development of elastic and muscle tissues in the upper airways. The characteristic radiologic features shown by bronchography include marked dilatation of the tracheobronchial system and diffuse saccular bronchiectasis. These findings and recurrent episodes of pneumonia lead to a progressive loss of pulmonary function. Even with vigorous medical therapy the prognosis is poor and severe respiratory failure eventually develops.     

Osteodysplasty (Melnick-Needles syndrome) (author's transl)

Authors report a new case of osteodisplasty (Melnick-Needles syndrome) and describe radiological findings that are typical of this entity: bony sclerosis of base structures, abnormal dental alignment, sclerosis and irregularity of clavicles and ribs, described as "band-like" deformity, cortical irregularity of tubular bones with metaphyseal flaring and diaphyseal bowing. Flat bones are broadened, particularly iliac crest and vertebral bones. Facial features described by the majority of authors in this entity are present in our patient in an incomplete form: craniofacial disproportion, micrognatia, depressed temples, exophthalmus (not in our patient) and broadened forehead. The paper is intended to gather clinical data of already reported cases in order to facilitate clinical research in the future from the immunological, genetical and biochemical points of view. Our patient has the same clinical history as the patient studied in the original paper. Dr. Melnick was kind enough to send us clinical data and autopsy findings.     

Oculo-facio-cardio-dental (OFCD) syndrome

OBJECTIVE: This study examined the effects on SPECT quantitation caused by erroneous size and position of the attenuation map and inaccurate pixel size used in the Chang algorithm. METHODS: Projection data of a three-dimensional head phantom were simulated with a uniform attenuation coefficient of 0.15/cm for the inside of the phantom. Images were reconstructed using the filtered backprojection algorithm without attenuation compensation and the Chang algorithm with different attenuation maps. Quantitative comparison then was performed between the reconstructed images and the phantom. RESULTS: The pixel values obtained for noisy data by using the first-order Chang algorithm with an accurate attenuation map were less than 10% different from the true values and the left-right asymmetry was under 5%. Small errors in the geometric parameters of the attenuation map, however, caused considerable quantitative inaccuracy in the reconstructed image. For example, a 0.64-cm error in the size of the map caused 10% deviation from the true value and a 0.64-cm shift of the position of the map towards the left produced 10% left-right pixel value asymmetry. CONCLUSION: The accuracy of the Chang algorithm critically depends on the geometric parameters. For a uniform attenuator with symmetric geometry, such as the human brain, a true left-right symmetry in the pixel value can be altered significantly by a small error in the geometric parameters, while symmetry can be maintained with no attenuation compensation.     

Oculo-facio-cardio-dental (OFCD) syndrome

OBJECTIVE: The aim of this study is to present an economic and convenient modification of the layout for laparoscopic cholecystectomy, utilizing a three-port technique. METHODS: The surgeon stands on the left side of the patient, while the assistant stands between the patient's legs. The scrub nurse stands on the right side of the patient facing the surgeon. The assistant also operates the camera. Only three ports are used. This technique was used in 119 consecutive patients over a 24-month period. Endoscopic retrograde chlolangiopancreotography (ERCP) was done preoperatively in patients suspected to have choledocholithiasis. RESULTS: Sixteen patients had ERCP done preoperatively and in 12 of them sphincterotomy and stone removal was carried out. Laparoscopic cholecystectomy was successfully completed in 115 patients. The mean operative time was 35 minutes. Four cases were converted (3.6%), one due to bile duct injury, two others due to extensive adhesions, and a fourth due to cholecystoduodenal fistula. The total morbidity rate was 4.2%. The mean hospital stay was 1.8 days. CONCLUSIONS: Laparoscopic cholecystectomy can be safely and conveniently done using only three ports in the modified position described. You need only one assistant, only one monitor and one less trocar. There is no prolongation of the operative time and the results are comparable to the classic four-trocar technique.     

Cervical vertebral fusion (Klippel-Feil) syndrome with consanguineous parents

We describe a female infant with the cervical vertebral fusion (Klippel-Feil) syndrome whom we recognized at birth because of her short neck, restriction of cervical movement, and low posterior hairline. X-ray examination showed anomalies of C1, and between C2-3 and C3-4; thus, we classified her as type II, with variable cervical fusion. At 24 months she was small and manifested hearing deficiency. The mother and father were consanguineous with five common ancestors four generations ago, which resulted in a coefficient of inbreeding equivalent to a second cousin relationship. The parents and grandparents were phenotypically normal, and the parents were radiologically normal. This form of the syndrome has previously been said to be autosomal dominant. Our conclusion of determination by a single autosomal recessive gene is evidence of genetic heterogeneity.     

An unusual congenital nail dystrophy (''soft nail disease'')

Approximately 4,000 preschool black children from low-income families in South Memphis participated for three years in a supplementary food program sponsored by the US Department of Agriculture. Part of this group received additional benefit from food stamps, day-care centers, and an infant-feeding program. We evaluated the effects of this participation in 250 children selected randomly from the enrollment list of the supplemetary program. Each child was examined for height, weight, head circumference, and levels of hemoglobin, serum iron, and vitamins A and C. The data were then compared with those from a similar survey in the same area conducted three years before. The results of this comparison indicate considerable improvements in height and weight and a reduction in the incidence of anemia and in the numbers of children with low plasma vitamin A levels. In the absence of other recognizable intervening factors, we conclude that federal food assistance programs were primarily responsible for the observed nutritional improvements.