Cervical diastematomyelia in cervico-oculo-acoustic (Wildervanck) syndrome: MRI findings

Cervico-oculo-acoustic (COA) or Wildervanck syndrome is characterized by the triad of Klippel-Feil anomaly, bilateral abducens palsy with retracted bulbs (Duane 'syndrome') and hearing loss. The clinical findings of this syndrome have been well documented. A few case reports with MRI findings have appeared in the literature showing brainstem and cerebellar hypoplasia and vertebral segmentation anomalies. Our case is unique in that diastematomyelia of the lower medulla and cervical cord was accompanied by vermian hypoplasia, tonsillar herniation and resulting triventricular hydrocephalus in a child with Wildervanck syndrome. This case is presented with MR images. Children with Wildervanck syndrome should be investigated for craniospinal abnormalities with MR imaging.     

The effects of hypertonic NaCl (7.5%) in dogs with induced acute pulmonary artery obstruction

The study was performed on 11 female and 9 male dogs to investigate the effect of hypertonic NaCl in severe hypotension and shock caused by acute pulmonary artery obstruction. The investigation was performed in Dicle University Healt Research Center (DUHRC). The youngest subject was six months old and the oldest was two years old. Their mean body weight was found as 19 kg. All the subjects were operated under general anesthesia. Invasive measurements of arterial pressure were performed through the right femoral artery by monitorization. All subjects were performed left thoracotomy, entrance to thorax was through 5th intercostal space, and first left then right pulmonary artery were circumferenced loosely with tape. After this, mean pulmonary artery pressures are recorded with the help of monitor by inserting canulla into the pulmonary artery. Pulmonary artery pressures at 3rd, 5th, 10th, 13th, 15th, 18th and 21st minutes after ligation of right main pulmonary artery and left lower lobe pulmonary artery, and mean artery pressures are recorded. Sodium nitroprusside is given to half of the subjects and nitroglycerine is given to the other half in order to lower pulmonary hypertension. Pulmonary arterial pressure measurements following administration of these drugs are recorded. 7.5% of NaCl infusion to subjects is performed in case of hypotension and shock. Isotonic NaCl solution is used in the control group. Mean arterial pressures in group receiving sodium nitroprusside + 7.5% NaCl solution are found significantly higher statistically when compared to group receiving sodium nitroprusside + 0.9% NaCl isotonic solution. Difference in mean arterial pressures were not found statistically significant in the group receiving nitroglycerin + 7.5% NaCl when compared to group receiving nitroglycerin + 0.9% NaCl solution.     

Effect of chemotherapeutic agents on distraction osteogenesis. An experimental investigation in rabbits

Limb-salvage operations such as vascularised or non-vascularised osseous grafts and allograft and callus distraction methods have replaced amputations because of the increase in the life expectancy of patients with malignant tumours. In this study we aimed to evaluate the effects of chemotherapeutic agents on distraction osteogenesis. For this purpose, 23 rabbits randomly divided into two groups were included in the study. The experimental group and the control group consisted of 12 rabbits and 11 rabbits, respectively. The experimental group were administered chemotherapeutic agents with the protocol identified in the osteogenic sarcoma regimen. All the subjects were corticotomised in the metaphyseal-diaphyseal region, and both groups underwent distraction with a circular ring fixator. X-ray films, bone scintigraphy and histopathological examination were performed three times during the study. No difference between the two groups was observed in radiological, scintigraphical and histopathological studies carried out before the distraction period and following the end of the distraction period. In this study, it was shown that the use of antineoplastic drugs has no significant negative effect on distraction osteogenesis applied for reconstruction in rabbits. We think that it can be an alternative treatment method in humans as well. Received: 20 February 2000     

Laryngeal atresia presenting as fetal ascites, olygohydramnios and lung appearance mimicking cystic adenomatoid malformation in a 25-week-old fetus with Fraser syndrome.

We describe a 25-week-old female fetus of consanguineous parents with ultrasonographic findings of increased echogenicity of lungs mimicking CAM (cystic adenomatoid malformation) type III, olygohydramnios and fetal ascites. A therapeutic abortion was performed and unilateral cryptophthalmos, laryngeal atresia and bilateral syndactyly of the hands and feet were observed at post-mortem. These findings confirmed the diagnosis of Fraser syndrome after abortion.     

Dermatoglyphic study in children with phenylketonuria

Summary Dermatoglyphic findings in 19 patients with phenylketonuria (11 male and 8 female), 39 of their relatives (18 female and 21 male) and 500 controls (TRC) were not statistically significant among the three groups studied. There was no definite relationship between the phenylketonuric gene and the dermatoglyphic patterns.The parents of half the phenylketonuria cases are not consanguineous; thus the phenylketonuria gene may be more frequent in Turkey than other European countries.     

DLQI scores in patients with keloids and hypertrophic scars: a prospective case control study

Background: Keloids and hypertrophic scars (HTS) can cause functional impairment and psychosocial burdens, both of which affects quality of life (QoL). Our aim was to compare Dermatology Life Quality Index (DLQI) scores in patients with keloids and HTS to those of psoriasis patients and normal controls. Patients and Methods: Forty‐eight consecutive patients with keloids and HTS and 48 with psoriasis vulgaris attending our dermatology outpatient clinic, as well as 48 sex‐ and age‐matched healthy controls completed the DLQI. Results: Total DLQI scores of patients with keloids and HTS (7.79 ± 5.10) and psoriasis (8.73 ± 5.63) were comparable and significantly higher than that of healthy controls (0.58 ± 0.77). No significant difference were found between patients with psoriasis and patients with keloids and HTS in terms of the total DLQI scores and the subscale scores (p > 0.05) except “treatment” (p < 0.05) sub‐scale scores which were higher in psoriasis. Conclusions: The QoL of patients with keloids and HTS is impaired as much as that of those with psoriasis. The DLQI questionnaire is a reliable and valid instrument for assessing the QoL in patients with keloids and HTS.     

Chronic renal failure in a patient with Sotos syndrome due to autosomal dominant polycystic kidney disease

Sotos syndrome is characterised by accelerated growth, acromegalic appearance, mental retardation and social maladjustment. Most cases are sporadic, but familial cases have also been reported. We report a case of Sotos syndrome presenting with chronic renal failure due to autosomal dominant polycystic kidney disease (ADPKD). Ultrasonographic examination of the patient, his father and other family members revealed polycystic kidneys. Renal failure was present only in the Sotos case, who also had considerably larger cysts than other family members. We suggest that the underlying mechanism responsible from the somatic overgrowth in Sotos syndrome may also be linked with the development of larger cysts and earlier onset of renal failure in ADPKD. Although Sotos syndrome has been associated with urological abnormalities, chronic renal failure is very rare. To our knowledge, Sotos syndrome associated with ADPKD has not been reported before.