Dyke-Davidoff-Masson syndrome: A case report with a literature review

Dyke-Davidoff-Masson syndrome (DDMS) is an uncommon neurological disease defined as cerebral hemiatrophy with a contralateral motor deficit, facial asymmetry, and seizures. Classic imaging findings are cerebral hypoplasia, ventriculomegaly, paranasal sinus hyper-pneumatization, and compensatory osseous enlargement. The diagnosis of DDMS is based on the correlation between clinical and neuroimaging features. The management of DDMS is based on anticonvulsant medication with physiotherapy. We describe an unusual case of DDMS presented with frequent and persistent seizures.     

Moyamoya syndrome presenting in an adult with Down syndrome: A case report with a literature review

Moyamoya disease is an unusual occlusive cerebrovascular condition commonly seen in children, marked by stenosis of the internal carotid artery and circle of Willis, causing, cerebral ischemia. Moyamoya syndrome is a Moyamoya-like arteriopathy with risk factors including autoimmune disorders, thyroid disease, sickle cell disease, or Down syndrome. Trisomy 21 is a genetic disorder consistent with specific physical and behavioral characteristics, with intellectual impairment. We describe a rare case of Moyamoya syndrome manifesting as ischemic stroke in an adult with Down syndrome     

Herlyn-Werner-Wunderlich syndrome: A case report in a young woman,with literature review

Herlyn-Werner-Wunderlich syndrome is a rare complex congenital disorder, with combined Müllerian and mesonephric duct anomalies, presenting with uterus didelphys, unilateral blind hemivagina and ipsilateral renal agenesis. Hemivaginal obstruction usually leads to impairment of normal menstrual flow, resulting in symptoms after menarche, namely dysmenorrhea, pelvic pain or infertility. Age of presentation depends on the anatomical features of this anomaly. We report a case of a 21-year-old female presenting with few symptoms and incidental findings on transvaginal ultrasound, with typical findings of this disorder on magnetic resonance imaging, which remains the gold standard imaging technique for thorough assessment of Herlyn-Werner-Wunderlich syndrome, allowing for a correct diagnosis and adequate surgical management. Our case also highlights some unusual features, such as the presence of a blind ectopic ureter, with hematic content, and an incomplete septum within the obstructed hemivagina.     

Cystic meningioma: A case report with a literature review

Cystic meningiomas are very rare tumors of the central nervous system. We report the case of a 62-year-old female how presented headaches resistant to usual analgesics with behavior disorders. Cerebral CT scan showed a right frontal extra-axial tumor with firm and cystic component, brain MRI evoked the diagnosis, surgery removed the entire tumor and histological examination confirmed it. A cystic meningioma should not be omitted from the differential diagnosis of brain tumors with a cystic component and which clinical, radiological, histological and therapeutic features are discussed.     

Alagille syndrome: case report with bilateral radio-ulnar synostosis and a literature review

We report a case of Alagille syndrome (arteriohepatic dysplasia) with the unusual radiological abnormality of synostosis of the proximal portions of the radius and ulna bilaterally, a manifestation which, to our knowledge, has not previously been described in a specific patient in the English language literature. We also describe additional features of the syndrome in the same patient and review the published literature on radiological manifestations of this condition.     

SAPHO综合征1例报道及文献综述

SAPHO综合征是累及骨、关节及皮肤的一系列病变的总称.骨关节病变没有特异性,易与其他疾病发生混淆.为加深对SAPHO综合征的认识.更好地做出早期正确诊断,本文报道了一例SAPHO综合征,并对其临床及影像学表现做了综述.     

Cherubism: a rare case report with literature review

Cherubism is an autosomal dominant disorder caused by a mutation of the gene encoding the binding protein SH3BP2. However, non-hereditary forms are observed, probably related to a de novo mutation. It is clinically manifested by an enlargement or a deformation of the jaw associated with a malposition of the teeth. In severe forms, these deformations can have a psychological impact, associated with ocular complications, as well as a reduction of the pharynx lumen and phonation disorders. The appearance of the lesions on imaging is not very specific, however it remains essential for the mapping of the lesions. We report a case of cherubism in a 12-year-old boy with no family history. This case report''s objective is to identify the radiological aspect of this pathology and establish an early diagnosis to oriented therapeutic interventions.     

肠系膜血管瘤1例及文献复习

目的探讨肠系膜血管瘤的MRI表现,提高对肠系膜血管瘤的认识。方法回顾性分析1例经手术证实的肠系膜血管瘤病人MRI资料并行文献复习。结果 MRI检查显示下腹部及盆腔巨大、呈扇形分布的囊实性肿块,于T_1WI、T_2WI及精准频率反转恢复序列信号混杂,其内可见多发线样分隔,呈蜂窝样改变;病变边缘于T_2WI还可见多发细小血管流空影,邻近肠管受压移位,局部肠壁与病变分界不清。结论肠系膜血管瘤的影像表现较具特异性,熟悉肠系膜解剖结构及血管瘤的特征性影像表现有助于本病的诊断,确诊需依赖病理组织学检查。     

Carpal tunnel syndrome associated with histoplasmosis: a case report and literature review.

A case of localized Histoplasma capsulatum flexor tenosynovitis causing a carpal tunnel syndrome is presented. Carpal tunnel release, with tenosynovectomy, was performed followed by antifungal therapy. The symptoms did not recur. Tenosynovectomy followed by antifungal treatment is recommended.     

Lhermitte-Duclos disease associated with Cowden's syndrome: case report and literature review

Lhermitte-Duclos disease (LDD) is a rare entity that may occur in the setting of Cowden's syndrome (CS). Accurate preoperative diagnosis can be made on the characteristic CT and MR appearances, thereby obviating the need for biopsy. It is important to be aware of the link between LDD and CS so that appropriate genetic counselling and tumour surveillance can be undertaken.     

OHVIRA syndrome presenting with acute abdomen: a case report and review of the literature

Uterus didelphys with obstructed hemivagina and ipsilateral renal agenesis (OHVIRA) or Herlyn-Werner-Wunderlich (HWW) syndrome is a rare congenital urogenital anomaly. A 13-year-old female presented with acute abdominal pain and dysmenorrhea. Ultrasonography and magnetic resonance imaging showed uterus didelphys, hematometrocolpos, obstructed hemivagina, and right renal agenesis. Hemivaginal septal resection and anastomosis between the obstructed hemivagina and the normal vagina was tried, but it was not possible. Unilateral hysterectomy was performed. HWW syndrome may present with acute abdomen and is usually treated with vaginal septum resection and drainage of the hematometrocolpos.     

Tension pneumocephalus: a case report with review of literature

Tension Pneumocephalus (PC) was described 50 years ago. A case of pneumocephalus (PC) following cervical epidural injection in a 50-year-old male worsened by air travel and manifested as tension pneumocephalus, confirmed by advanced neuroimaging, is reported for the first time along with literature review. The patient underwent emergent frontal burr hole evacuation and air gushed under pressure. The patient recovered well and is stable during a follow-up of 12 months. Presenting features and clinical course along with Mount Fuji sign, Peaking sign, and air bubble sign observed in this case are described. Also, the importance of considering neurosurgical and spinal procedures leading to PC have to be considered by practitioners before issuing fitness certificate before air travel, as PC is likely to get transformed to tension PC and can cause an in-flight emergency.     

Nail-patella syndrome. A case report and review of the literature

We report on the case of a 36 year-old woman with nail-patella syndrome that was detected following a plain roentgenogram of the abdomen showing iliac horns. The nail-patella syndrome (NPS) is a hereditary disorder of tissues of ectodermal and mesodermal origin transmitted as an autosomal-dominant trait. Complete NPS is characterised by a series of skeletal disorders and specific nephropathy; in the recent years some other diseases associated with NPS were described, whereas many patients exist with incomplete NPS.     

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.

     

Postoperative toxic shock syndrome: a case report and review of the literature

Toxic shock syndrome is a rare and potentially lethal postoperative complication. The recognition of this disorder can be delayed by the fact that the offending wounds in postoperative toxic shock syndrome are classically benign in appearance. The infrequency with which this syndrome is encountered can also prolong the interval between the onset of symptoms and institution of effective therapy. A case of toxic shock syndrome complicating an abdominoplasty performed at the Plastic Surgery Service of Walter Reed Army Medical Center is presented, and the literature available on toxic shock syndrome in the postoperative patient is discussed.     

成人不典型表现髓母细胞瘤1例及文献复习

目的探讨成人不典型髓母细胞瘤的MRI表现,提高对髓母细胞瘤的认识。方法回顾性分析1例经手术病理证实的成人髓母细胞瘤病人MRI资料并行文献复习。结果 1例不典型成人髓母细胞瘤的影像表现:CT上双侧小脑半球、小脑蚓部呈弥漫高密度,边界不清;MRI表现为双侧小脑半球、小脑蚓部及左侧桥臂呈弥漫性稍长T1、稍长T2信号,DWI上呈稍高信号,ADC图上呈稍低信号,增强扫描病变大部分未强化,局部呈脑回样强化。1H-MRS检查可见桥臂区病变Cho峰升高,NAA峰减低,Cho/NAA明显升高。PET显像中病变呈18F-FDG低代谢,11C-MET高代谢。结论成人髓母细胞瘤的影像表现不典型,多种影像检查对诊断本病有重要价值,确诊需依赖病理组织学检查。     

Kozlowski type spondylometaphyseal dysplasia: a case report with literature review

Spondylometaphyseal dysplasia is a type of bone dysplasia characterized by vertebral and metaphyseal changes of varying severity. Diagnosis of the disease is difficult because the severity of bone involvement differs and symptoms change according to the age of the patient. In this study, radiographic findings of a 16 month-old male patient diagnosed as Kozlowski type spondylometaphyseal dysplasia is reported.     

Jejunogastric intussusception: a case report with the review of literature

Jejunogastric intussusception (JGI) is a rare but potentially lethal complication of gastrectomy or gastrojejunostomy. In the acute setting, early diagnosis and prompt surgical intervention are mandatory to avoid mortality. We present a case of JGI in a patient with a history of gastrojejunostomy who had increasing vomiting, hematemesis, and abdominal pain for 1 day.     

霉菌性脊柱炎1例并文献复习

目的探讨霉菌性脊柱炎的临床表现、影像特征和病理特点,提高对霉菌性脊柱炎的认识和鉴别诊断能力。方法回顾性分析1例经手术病理证实的霉菌性脊柱炎病人的影像及病理资料并行文献复习。结果 CT检查显示胸4～胸7椎体广泛骨质硬化伴有周围软组织肿块,病变内部可见散在小片状骨质破坏区,邻近椎间隙无明显变窄;MRI显示胸4～胸8椎体可见斑片状异常信号影,T_1WI上呈低信号,T_2WI上呈稍高信号,抑脂序列呈高信号,邻近椎间盘未见明显异常,增强检查病变椎体、椎旁及硬膜外肿块呈明显强化。术后病理诊断为霉菌感染,血清曲霉菌半乳甘露聚糖检测为阳性。结论霉菌性脊柱炎罕见,其临床和影像表现无特异性,确诊需依赖于病理组织学检查。