Anaesthetic management for Edward's syndrome

We report the anaesthetic management for a Cohen procedure in a girl with Edward's syndrome (trisomy 18). Information in the literature about anaesthetic management in trisomy 18 patients is poor. The patients are dysmorphic, have severe mental retardation and multiple organ malformations of which congenital heart disease is the most important. Our patient was a 7 year-old girl, such a survival being exceptional with trisomy 18. Anaesthesia is high risk and pain assessment is difficult. Establishing good relations with the family and appraising the need for surgical procedures are the main other difficulties.     

Proteus syndrome: report of a case with recurrent abdominal lipomatosis

Proteus syndrome (PS) is an extremely rare congenital hamartomatous syndrome that was first delineated by Cohen and Hayden (1). The estimated prevalence is less than 1 per 1,000,000 live births (2). It is a sporadic disorder that causes overgrowth of multiple tissues, especially bone, fat, and other connective tissues in a patchy or mosaic pattern. Subcutaneous as well as internal lipomas that may grow to an enormous size are frequently observed. Nevertheless, among the internal lipomas, abdominal lipomatosis is rare (3), with less than 15 cases reported. Herein, we report the first patient described with this distinctive syndrome associated with lipomatosis involving the epiploon.     

74例神经源性膀胱输尿管反流肾积水的治疗分析

目的总结对神经源性膀胱输尿管反流肾积水的治疗体会。方法回顾性分析74例神经源性膀胱肾积水患者的临床资料。针对不同情况采取不同的治疗方法：膀胱功能训练,膀胱内括约肌切开术,输尿管口交错固定术（改良Cohen cross-Trigonal法）。分析不同治疗方法的优缺点及适应证。结果 8例神经源性膀胱患儿行膀胱功能训练方法治疗,5例患儿的肾功能缓解或得到控制;经尿道膀胱内括约肌切开术治疗32例,22例患者的肾功能及肾积水情况得到较好的缓解或控制;选择输尿管口交错固定治疗者34例,31例患者的肾功能及肾积水情况得到较好的缓解或控制。结论针对不同的病例,3种治疗方法为有效及安全的。对儿童患者,膀胱功能训练是系统治疗的第一步;对尿道压力增高的患者,膀胱内括约肌切开术是有效的选择;对于尿道压力正常的患者,输尿管口交错固定术是安全有效的,成功率为91.2%（31/34）。     

Results of treatment of compartment syndrome of the upper arm

Only a small number of cases of compartment syndrome in the upper arm has been reported in the literature. The authors have reviewed 14 patients with 14 cases of compartment syndrome treated at their institution from 1980 to 1988. In the majority of cases in this series, compartment syndrome was caused by blunt, high-energy trauma. There were 9 patients with multiple trauma, 7 of whom were motor cyclists, and fracture of the upper arm was present in most of these. In 5 patients scapulothoracic dissociation with disruption of the neurovascular bundle of the upper extremity concerned was present. In this series, 2 patients died of their injuries and three arms had to be amputated. At final follow-up after an average of 45 months (range 11-91 months) the functional result was dependent mainly on the severity of the associated injuries. Patients with isolated compartment syndrome had full recovery of upper limb function.     

Transverse ureteral advancement technique of ureteroneocystostomy (Cohen reimplant) and a modification for difficult cases (experience with 121 ureters)

We reimplanted 121 ureters by the Cohen technique. A modification is introduced for difficult cases, making the Cohen technique more adaptable for dilated ureters and small bladders. Radiographic studies obtained at least 6 months after reimplantation revealed only 1 case of persistent reflux (grade I), no case of contralateral reflux and no obstruction. Even though the series included 35 ureters with grade V primary reflux and 7 primary obstructive megaureters, only 7 ureters were tapered. This finding suggests that the Cohen method might require tapering in a smaller percentage of cases compared to other reimplantation techniques.     

Numb chin syndrome as the presenting symptom of metastatic prostate carcinoma

We report a case of the numb chin syndrome as the presenting symptom in a patient with metastatic prostate carcinoma. The numb chin syndrome is characterized by facial numbness along the distribution of the mental branch of the trigeminal nerve. Most cases of this syndrome that are not dental in origin have been associated with diffuse metastatic disease, particularly with underlying lymphoproliferative and breast cancer. Although axial and vertebral bone metastases are common in patients with carcinoma of the prostate, mental nerve involvement is rare. We present a case of the numb chin syndrome as the initial clinical manifestation in a patient with metastatic prostate adenocarcinoma.     

Gastric Outlet Obstruction by a Large Gallstone (Bouveret’s Syndrome)

Bouveret’s syndrome is an uncommon cause of gastric outlet obstruction due to intraluminal duodenal obstruction by a large gallstone, which has migrated via a cholecystoduodenal fistula. The presenting symptoms are not specific in the majority of cases, but most of the patients have known biliary lithiasis. Usually Bouveret’s syndrome carries a poor prognosis. Consideration of Bouveret’s syndrome in patients presenting with gastric outlet obstruction is important because of the rarity of this entity and the difference in the required surgical approach from that applied for other more common causes of obstruction. We present the case of a 55-year-old male with Bouveret’s syndrome, presenting as the first manifestation of gallstone disease, and successfully treated by open surgery, with a comprehensive literature review.     

Nephrogenic rests in Wilms tumor patients with the Drash syndrome.

The histological specimens from 12 patients with the Drash syndrome were identified from the National Wilms Tumor Study Group and reviewed for the presence of nephrogenic rests. Of 7 patients with the complete Drash syndrome 6 were evaluable for nephrogenic rests, including 5 (83%) who demonstrated intralobar nephrogenic rests. Of 5 (80%) partial Drash syndrome cases 4 (80%) were also intralobar nephrogenic rest positive. Neither group had perilobar nephrogenic rests identified. In a control population of Wilms tumor patients without the Drash syndrome only 39 of 274 (14%) with unilateral tumor had intralobar nephrogenic rests identified, whereas 26 of 92 (28%) bilateral cases had intralobar nephrogenic rests. There was a significantly higher rate of intralobar nephrogenic rests in complete and partial Drash syndrome cases than in the general Wilms tumor population (p less than 0.001). Wilms tumor patients with intralobar nephrogenic rests and the Drash syndrome present at a younger age and have a higher rate of bilaterality than rest negative Wilms tumor patients. The strong association of intralobar nephrogenic rests in the Drash syndrome approaches that found in the aniridia complex. However, in other syndromes associated with Wilms tumor, such as the Beckwith-Wiedemann syndrome and hemihypertrophy, there is a high prevalence of perilobar nephrogenic rests. In view of the high incidence of intralobar nephrogenic rests in complete and partial Drash syndrome patients, it is probable that events leading to Wilms tumor in patients with the Drash syndrome occur at an early stage in nephrogenesis.     

Minocycline-induced black thyroid gland: Medical curiosity or a marker for papillary cancer?

PURPOSE: Black pigmentation of the thyroid gland is a rare side effect of minocycline. METHODS: Only 26 cases, in addition to the 2 we present, have been reported in the literature. Eleven cases of thyroid carcinoma associated with black thyroid syndrome have been reported. CONCLUSIONS: The incidence of papillary cancer may be increased in thyroid glands stained by the minocycline pigment, which warrants an increased index of suspicion in patients who develop thyroid nodules and have previously been treated with minocycline.     

TWO CASES OF ACUTE CARPAL TUNNEL SYNDROME IN CLASSIC HAEMOPHILIA

We present two cases of acute carpal tunnel syndrome in patients with haemophilia A. There have been only a few cases reported and controversy exists as to whether conservative or surgical treatment should be given in the acute phase. We successfully decompressed the carpal tunnel in both cases. The numbers reported are small, however, and a combination of conservative and surgical treatment remains acceptable in the early phase of this syndrome.     

Two cases of acute carpal tunnel syndrome in classic haemophilia.

We present two cases of acute carpal tunnel syndrome in patients with haemophilia A. There have been only a few cases reported and controversy exists as to whether conservative or surgical treatment should be given in the acute phase. We successfully decompressed the carpal tunnel in both cases. The numbers reported are small, however, and a combination of conservative and surgical treatment remains acceptable in the early phase of this syndrome.     

Early intramedullary nailing of femoral shaft fractures: A cause of fat embolism syndrome

Results of our retrospective review of 100 consecutive patients show that early intramedullary nailing can be accomplished in severely injured patients without increasing the risk of fat embolism syndrome. No cases of fat embolism syndrome were seen after immediate (less than 24 hours) intramedullary nailing of femoral shaft fractures. In contrast, five cases of fat embolism syndrome were found in the patients treated in the traditional manner with initial balanced skeletal traction and delayed intramedullary nailing. There was a trend toward more pulmonary complications in the immediate group. This is attributed to the greater severity of injury present in the patients selected for immediate intramedullary nailing (injury severity scores 23.2 in immediate group; 12.4 in delayed group). The incidence of critical hypoxemia in the immediate group was equivalent to that in another group of injured patients who did not have fractures, but who did have similar injury severity scores.     

Dilemmas in the early diagnosis and treatment of multiple endocrine adenomatosis, type II.

Fifteen patients with the diagnosis of multiple endocrine adenomatosis, type II, syndrome (MEA II) were reported from a single center to discuss the dilemmas of early detection and treatment of the adrenal medullary, thyroid, and parathyroid gland diseases. Ten patients came from three families. Three of the patients died, none in hypertensive crisis. Bilateral adrenal medullary disease was present in six patients. Five patients with proved pheochromocytoma had hypertension. All had diagnostic urinary catecholamine values. Nine normotensive patients without proved pheochromocytoma but in a high-risk category for adrenal medullary disease, have multiple suspicious urinary cathecholamines suggestive of adrenal medullary hyperplasia. Bilateral adrenalectomy is recommended for proved adrenal medullary disease in the MEA II syndrome. Medullary carcinoma of the thyroid gland was found in 13 patients and is believed to be present in two others. Five of the proved cases were occult, being discovered by elevation of pentagastrin-stimulated serum calcitonin levels, justifying total thyroidectomy. Parathyroid hyperplasia was found in three patients with preoperative hypercalcemia and in four others with preoperative normocalcemia. Conservative treatment of parathyroid gland hyperplasia in the MEA II syndrome is substantiated. Metachronous phenotypic expression of the syndrome components was significant.     

Cauda equina syndrome in patients undergoing manipulation of the lumbar spine.

Cauda equina syndrome has been implicated as a potential complication of spinal manipulation. A review of the literature from 1911 to 1989 revealed ten reported cases of cauda equina syndrome in patients undergoing manipulation without anesthesia. This article presents three new cases where a temporal association was found between the onset of cauda equina symptoms and lumbar manipulation. The type of manipulation administered and the relationship between the treatment and symptoms is reviewed. In each of these cases both the chiropractic practitioner and the emergency room physician failed to comprehend the nature of the problem and take appropriate action. As a consequence, the patients went untreated for several days. This may have led to residual symptomatology. It is concluded that patients who present with bowel or bladder disturbances, leg weakness, or rectal and genital sensory changes after manipulation, be recognized as experiencing a cauda equina syndrome.     

Anaesthesia in patients with Brugada syndrome

Brugada syndrome is characterized by right bundle branch block, ST segment elevation in the precordial leads and sudden death caused by ventricular fibrillation. We present two successful anaesthetic management cases in patients with Brugada syndrome.     

Five cases of acute poststreptococcal glomerulonephritis with acute renal failure and nephrotic syndrome

During the period of 27 years from 1974 to 2000, acute episodes were studied retrospectively in 130 patients under 14 years of age with poststreptococcal acute glomerulonephritis(PSAGN). PSAGN cases have a variable clinical presentation from asymptomatic to severe oliguric acute renal failure(ARF). Proteinuria is nearly always present, but is less than 3.5 g/day. Nephrotic syndrome(NS) is not commonly observed in PSAGN. Among 130 patients, 5 cases had NS with ARF. The present study investigated a spectrum of NS with ARF and the significance of clinical features in PSAGN.     

Dural ectasia is associated with back pain in Marfan syndrome

STUDY DESIGN: A cross-sectional age- and sex-matched study comparing the prevalence and size of dural ectasia in two groups of patients with Marfan syndrome. Group I comprised patients with moderate to severe back pain and Group II comprised patients without back pain. OBJECTIVES: To determine whether the presence and size of dural ectasia is associated with back pain in patients with Marfan syndrome. SUMMARY OF BACKGROUND DATA: Dural ectasia is present in more than 60% of patients with Marfan syndrome. Moderate to severe back pain is present in more than 50% of patients with Marfan syndrome. Most cases of significant low back pain in patients with Marfan syndrome do not have a clear cause. It would be useful for the clinician to know whether dural ectasia may be a cause of back pain in patients with Marfan syndrome with no other source. METHODS: Thirty two volunteers aged 30-50 with Marfan syndrome were enrolled as age- and sex-matched pairs with significant back pain (Group I) and without back pain (Group II). A completed questionnaire, physical examination, and magnetic resonance image of the lumbosacral spine were obtained. Dural volume caudal to L5 was calculated from the magnetic resonance data by specially designed software. RESULTS: Dural ectasia was present in 76% of the patients in Group I, and 41% of the patients in Group II. The proportion of patients with dural ectasia was significantly higher in Group I. Furthermore, the mean dural volume was significantly higher in Group I, and a significant correlation between dural volume and Oswestry pain score was noted. CONCLUSIONS: The presence and size of dural ectasia are associated with back pain in the Marfan syndrome. However, a high prevalence of dural ectasia (41%) exists even in patients with Marfan syndrome without back pain. The mere presence of dural ectasia therefore does not necessarily mean the patient will be symptomatic even though the two are associated.     

Spinal anesthesia for a parturient with the triad of Currarino

The triad of Currarino, also known as Currarino syndrome or complex, is a rare hereditary syndrome involving a bony sacral defect, an anorectal malformation and a presacral mass. Thus far, only 250 cases have been reported, but milder cases may not be recognized, and many cases may not be published. In addition to disorders of the gastrointestinal and urogenital tracts, sensory and motor deficits may be present. Currently, there are no reports of women with the triad of Currarino undergoing cesarean delivery with the use of neuraxial anesthesia. Neuraxial anesthesia in patients with congenital malformations of the spine may be complicated or contraindicated, depending on the level and severity of the anatomic abnormality. We present the case of a pregnant woman at 36 weeks of gestation who underwent uncomplicated neuraxial anesthesia for cesarean delivery. When neuraxial anesthesia is contemplated in such patients, they should first receive careful neurologic and radiologic evaluation.     

女性腺性膀胱炎临床表现分析(附72例报告)

目的:分析女性腺性膀胱炎患者各种不同的临床表现,提高诊断水平.方法:回顾性分析2003～2004年145例存在尿道综合征、镜下血尿、反复尿路感染的女性患者及8例并发泌尿科其他疾患或妇科病的患者实施膀胱镜检查及活检.结果:占检查人数49%共72例女性患者经病理证实为腺性膀胱炎,其中10例同时伴有腺性后尿道炎.22例患者伴有尿道外口畸形或其他病变.其他原发病8例:膀胱子宫黏膜异位症1例,膀胱颈梗阻3例,膀胱嗜铬细胞瘤1例,肾炎性肉芽肿1例,妇科手术前输尿管插管定位2例.58例在本院手术(经尿道电切56例,开放手术2例).结论:腺性膀胱炎是女性常见病,可有多种临床表现,医师应该引起足够的重视.     

Cubital tunnel syndrome: a retrospective review of 53 anterior subcutaneous transpositions

Fifty-three cases of cubital tunnel syndrome were treated by anterior subcutaneous transposition of the ulnar nerve. All patients were assessed by an independent examiner at a mean follow-up of 32 months. McGowan's rating scale, as modified by Goldberg, was used preoperatively and at follow-up. Preoperatively, five cases were classified grade I, 37 grade IIA, eight grade IIB and three grade III. Thoracic outlet syndrome was also present in 7 cases. At follow-up, 44 cases were grade 0, three grade I, five grade IIA and one grade IIB. Forty-four of the 53 cases had resolved and the other nine had improved. Subcutaneous transposition is a reliable and effective surgical option. The result is less satisfactory if a thoracic outlet syndrome is also present.