Toxic epidermal necrolysis (Lyell syndrome) and its medico-legal implications

Summary The authors describe toxic epidermal necrolysis and report on the clinical observation and post mortem findings in a 5 year old girl, treated with monophenylbutazone.The correct diagnosis is important since the changes might otherwise be wrongly ascribed to burning. The diagnosis also raises the question of a therapeutic mishap and, in turn, the possibility of a claim for compensation.

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Zusammenfassung Bericht über einen Fall von Lyell-Syndrom (Epidermolysis toxica acuta). Fünfjähriges Mädchen entwickelte 2 Tage nach Aufnahme von 5mal 100 mg Monophenylbutazon (in Westdeutschland nicht im Handel) ein Exanthem aus kleinen roten Flecken. 2 Tage später erschienen klare Blasen, und schließlich ließ sich fast am ganzen Körper die Haut in großen Fetzen ablösen. Tod bei Hypothermie und zunehmender Bewuß tseinstrübung 18 Tage nach Beginn der Erscheinungen. Die Sektion ergab u. a. makroskopisch Bronchopneumonie, Mediastinalemphysern, Hirndruck, Stauungsorgane; mikroskopisch leichte Leberverfettung, toxische Schwellung der Milzkeimzentren, Entspeicherung der Nebennierenrinde; bakteriologisch: Pseudomonas aeruginosa. Die Eltern beschuldigten Ärzte und Apotheker der falschen Behandlung. Fälle dieser Art können irrtümlich als Verbrennung angesehen oder als therapeutische Unglücksfälle mit allen möglichen rechtlichen Konsequenzen gedeutet werden.

     

A case report and a proposed algorithm for the transfer of patients with Stevens-Johnson syndrome and toxic epidermal necrolysis to a burn center

Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare cutaneous diseases marked by substantial epidermal denudation and are often complicated by sepsis and multiple organ failure. They are most commonly caused by drug therapy. Patients afflicted with these diseases require care that may exhaust the capabilities of medicine wards and medical intensive care units alike; however, their mortality is reduced when treated at burn centers, which are better equipped to treat extensive skin denudation. We report a case of TEN and propose an algorithm to provide guidance for making the critical decision to transfer patients with SJS and TEN to burn units.     

The roving aorta of Marfan's syndrome: A case report

Real-time ultrasound demonstrated an unusual degree of side-to-side mobility of the abdominal aorta in a patient with Marfan's syndrome. With only moderate pressure, it was possible to displace the aorta to the right side of the spine. It is postulated that this phenomenon results from abnormal laxity of retroperitoneal connective tissue.     

A clinically mild case of mucopolysaccharidosis type I —Scheie syndrome (case report)

A 5-year-old boy presented with prominent chest, clavicles and scapulae. Restricted movements in his large joints and neck were noted. A skeletal survey showed changes of mild dysostosis multiplex. His mental development was normal. Biochemical studies were consistent with the clinical diagnosis of Scheie syndrome. Correspondence to: K. Kozlowski     

A case of Churg-Strauss syndrome

Summary A 54-year-old woman died after being battered, but the forensic autopsy revealed that her injuries were not serious or lethal. A detailed histological examination revealed that the basic disease had been Churg-Strauss syndrome. The differentiation of this syndrome of pulmonary infiltration and eosinophilia (PIE syndrome) from other allergic and noninfectious granulomatoses needs cautions consideration.     

A case of superior mesenteric artery syndrome

Superior mesenteric artery (SMA) syndrome, also known as Cast syndrome, Wilkie''s syndrome, or duodenal ileus, is a rare condition involving compression of the duodenum between the aorta and the SMA, primarily attributed to loss of the intervening mesenteric fat pad. Clinical symptoms include postprandial epigastric abdominal pain, nausea, emesis, and weight loss. At-risk individuals include those with rapid weight loss, debilitating illness, malignancy, malabsorption syndromes, trauma, neurologic injury, eating disorders, and substance abuse. Here, we present a case of SMA syndrome in a 24-year-old woman presenting with nausea, vomiting, and abdominal pain who improved with conservative management.     

An autopsy case of spontaneous esophageal perforation (Boerhaave syndrome)

A 45-year-old male, an alcohol addict with asthma, was found dead in his home, after several days of continued drinking. A forensic autopsy was performed 3 days after the discovery of his death in order to specify the cause of death.A longitudinal perforation penetrating all layers of the esophagus measuring 1.8 cm was present on the left wall approximately 2.0 cm from the gastroesophageal junction. There were 1900 mL of greenish to brownish turbid liquid in the left pleural cavity and 150 mL of greenish viscous liquid in the stomach. Histopathologically, an infiltration of numerous neutrophils was evident in the submucosa layer, proper muscular layer, and serous membrane of the esophagus, corresponding to the esophageal laceration. The serum C-reactive protein (CRP) concentration was determined to be 3.1 mg/dL. The alcohol concentrations were determined to be 1.49 mg/g in the right cardiac blood, 1.31 mg/g in the left cardiac blood, and 2.48 mg/g in urine.Based upon the autopsy and histopathological findings, as well as the biochemical and toxicological analyses, we concluded that the cause of death was respiratory failure by pleural effusion, resulting from spontaneous esophageal perforation. This was the first report of a spontaneous esophageal perforation eventually causing respiratory failure.     

全身多骨及皮肤受侵的Gorham-Stout综合征1例报告并文献复习

目的：提高对Gorham-Stout综合征的认识。方法报告1例下颌骨、肋骨、双手（足）多骨及皮肤受侵的Gorham-Stout综合征患者,结合文献对其临床特征进行探讨。结果DR片示右侧下颌支、多根肋骨、双手（足）多发中远节指（趾）骨质吸收溶解,残端呈“削笔尖”状,溶骨区无骨膜反应;CT结合二维及三维重建直观地显示了骨质破坏的范围、周围软组织萎缩;MRI见残留的右侧下颌小头周围少许长T1、T2异常信号渗出影环绕。肋骨及胸膜穿刺活检病理见成骨细胞明显减少,而血管和纤维组织增生。结论Gorham-Stout综合征是一种以大块骨质溶解为特征的罕见病,影像学及病理结合临床有助于发现该病。     

The value of abdominal angiography in Turner's syndrome: A case report

In patients with Turner's syndrome, there is a relatively high incidence of gastrointestinal bleeding due to telangiectasias of the intestine. Despite the importance of preoperative diagnosis of the lesion in planning surgical treatment, the related angiographic findings have never been reported. We have studied one patient in whom the diagnosis was established by preoperative angiography. This work was supported in part by USPHS Grant 2 R10-HL15265     

原发性胆汁性肝硬化-自身免疫性肝炎重叠综合征临床病例分析

目的探讨原发性胆汁性肝硬化自身免疫性肝炎（PBC-AIH）重叠综合征的临床病理特征及治疗应答。方法对具有肝穿刺标本的11例PBC-AIH重叠综合征、21例Ⅰ型AIH和20例PBC（Scheuer分期Ⅰ、Ⅱ期）患者进行比较,重点分析PBC-AIH重叠综合征的临床表现、病理特点及治疗应答。结果3组患者的性别、年龄、病程无显著差异;PBC-AIH重叠综合征血清碱性磷酸酶（ALP）、γ-谷氨酰转肽酶（GGT）、免疫球蛋白IgM以及抗线粒体抗体（AMA）、AMA-M2阳性率明显高于AIH组（P〈0．05或P〈0．01）;而丙氨酸转氨酶（ALT）、天冬氨酸转氨酶AST、γ-球蛋白、免疫球蛋白IgG以及抗核抗体（ANA）或抗平滑肌抗体（SMA）阳性率明显高于PBC（P〈0．05或P〈0．01）。肝组织学示界面炎／碎屑样坏死、小叶内炎症及胆管病变;重叠综合征熊去氧胆酸（UDCA）治疗组7例中4例（57％）肝功能改善（P〈0．05）,UDCA及泼尼松龙联合治疗组7例中5例（71％）ALT、胆红素（BIL）、AST恢复正常,ALP、GGT明显下降（P〈0．05或P〈0．01）。PBC组中13例（65％）ALT、BIL、ALP、GGT明显下降（P〈0．05）。结论PBC-AIH重叠综合征临床、血清学及组织病理学表现出AIH和PBC双重特征,不同于单纯的PBC和AIH,UDCA及泼尼松龙联合治疗有助于生化指标改善。     

飞行员肾病综合征治愈后恢复飞行一例

一、临床资料 患者男性,25岁,直-8飞行员.飞行时间500 h.因上腹部饱胀不适,双下肢浮肿半月入院.患者于2006年12月无明显诱因出现上述症状,在原单位对症治疗无好转.     

MRI of Wolfram syndrome (DIDMOAD)

Wolfram syndrome (DIDMOAD) is a rare diffuse neurodegenerative disorder characterised by diabetes insipidus, diabetes mellitus, optic atrophy, deafness, and a wide variety of abnormalities of the central nervous system, urinary tract and endocrine glands. It may be familial or sporadic. Reported features on MRI of the brain are absence of the physiological high signal of the posterior lobe of the pituitary, shrinkage of optic nerves, chiasm and tracts, atrophy of the hypothalamic region, brain stem, cerebellum, and cerebral cortex. We report a 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy. MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra. This is consistent with previously reported neuropathological post-mortem studies, but has never been reported in vivo. Received: 23 November 1998 Accepted: 23 March 1999     

An unusual association of intracranial aneurysms and oesophageal duplication in a case of Klippel-Trenaunay syndrome

The Klippel-Trenaunay syndrome (KTS) is a congenital disorder resulting from a mesodermal abnormality, characterised by cutaneous capillary haemangiomas, hypertrophy of bone and soft tissues and varicose veins. The presence of intracranial aneurysms has rarely been described, while oesophageal duplication has not been reported previously. We describe a patient with the KTS with both there additional abnormalities, which could be explained by a postulated mosaic gene abnormality. Received: 17 December 1999/Accepted: 12 April 2000     

A case report of Wyburn-Mason syndrome and review of the literature

Introduction

Wyburn-Mason syndrome is a distinct congenital neurocutaneous entity comprised of ipsilateral arteriovenous malformations (AVMs) of the midbrain, vascular abnormalities affecting the visual pathway, and facial nevi.

Methods

We report a case and review of the literature of all other reported cases of Wyburn-Mason syndrome (n?=?26) in the English literature since 1973.

Results

In this review, we report on a 4½-year-old boy with Wyburn-Mason syndrome who presented with left retinal and orbital AVMs and a ruptured thalamic AVM. The patient did not respond to light in the left eye and demonstrated a left afferent pupillary defect. He did not have any cutaneous lesions. We also characterize other reported cases of Wyburn-Mason syndrome.

Conclusion

The presentation of patients with Wyburn-Mason syndrome can vary greatly according to the site and the extent of vascular lesions. Intracranial AVMs occasionally hemorrhage with significant morbidity. Treatment is controversial, and patients are typically managed conservatively by observation.

     

Unilateral delayed opercularization in a case of Sotos' syndrome (cerebral gigantism)

Summary A case of Soto's syndrome (cerebral gigantism) is described. Pneumencephalography, performed at the age of 15 days, revealed abnormal separation of the opercula on the right. By comparing the contours with developmental anatomical features of this area it agreed with a foetal development of 24 weeks gestational age. Bilateral carotid angiography was normal. CT showed normal development of the Sylvian area at the age of 27 months.     

MR imaging of compartment syndrome of the lower leg: a case control study

The aim of this study was to evaluate the use of MR imaging for diagnosis and therapy management of compartment syndromes. In total, 15 patients (5 with an imminent compartment syndrome and 10 with manifest compartment syndrome) underwent MR imaging with a variety of pulse sequences including fat suppression, magnetization transfer imaging, and intravenous gadopentetate dimeglumine (Gd-DTPA) administration. Early and late follow-up MR images were obtained. Manifest compartment syndromes showed swollen compartments with loss of normal muscle architecture on T1-weighted spin-echo images. T2-weighted spin-echo and magnetization transfer imaging showed bright areas, which enhanced after Gd-DTPA. Early follow-up showed changes in enhancement patterns; late follow-up showed fibrosis and cystic and fatty degenerations of the affected compartments. MR imaging can help make the diagnosis of a manifest compartment syndrome in clinically ambiguous cases. It points out the affected compartments and allows the surgeon to selectively split the fascial spaces.     

Fatal outcome of posterior reversible encephalopathy syndrome (PRES) in a lupus nephropathy patient: A case report

Posterior reversible encephalopathy syndrome is a rare underestimated condition, that generally complicates a rise in blood pressure in an acute setting. This entity has been increasingly identified in patients with systemic lupus erythematosus disease. PRES is challenging to diagnose seeing as it presents with nonspecific neurological symptoms, such as head-aches, confusion, seizures, visual changes or a coma, and can mimic neuropsychiatric lupus. Imaging plays a necessary role in confirming this diagnosis, as it is characterized by vasogenic edema of the posterior white matter, in which the distribution is bilateral and symmetrical. Although this syndrome is rare, early diagnosis allows a prompt treatment and therefore a favorable outcome. We present a case report of PRES in a 14-year-old female previously diagnosed with lupus nephropathy, who presented to the emergency department with seizures and uncontrolled hypertension, that was unfortunately not reversible is this patient.