Displasia fibrosa craneofacial y quiste óseo aneurismático en una paciente con síndrome de McCune-Albright. Presentación de un caso y revisión de la literatura

McCune-Albright syndrome (MAS) is a rare heterogeneous genetic disorder that is characterized by a triad of polyostotic fibrous dysplasia (FD), café au lait spots (CAL), and multiple hyperfunctional endocrinopathies. In general, it is diagnosed clinically. From the triads, 2 of the findings are enough to make the diagnosis.Craniofacial fibrous dysplasia is a term that is used to describe the fibrous dysplasia, which was localized at the craniofacial skeleton and is common in MAS patients.Aneurysmal bone cyst (ABC) is a rare non-neoplastic bone lesion that involves mostly the long bones and vertebrae and may occur very rarely in the craniofacial bones. ABCs may occur as secondary bony pathologies in association with various benign and malignant bone tumors and with fibrous dysplasia. Secondary ABC occurring in craniofacial FD is extremely rare. We present the case of a 21-year-old patient treated at our center for a right orbital aneurysmal bone cyst associated with MAS and provide a review of the relevant literature.     

经颅显微手术治疗额-眶骨纤维结构不良致视神经管狭窄

目的评价经颅显微视神经管减压术在治疗及预防额-眶骨纤维结构不良致视神经管狭窄引起视力下降中的作用及其手术适应证和时机。方法对18例（20侧）因额-眶骨纤维结构不良致视神经管狭窄的患者,进行单侧视神经管减压术16例,双侧视神经管减压术2例,其中治疗性手术14例（15侧）,预防性手术4例（5侧）。结果18例均于术后随访1年9个月至10年,平均34个月。治疗性手术后视力改善3只眼,视力稳定在术前水平10只眼,视力下降2只眼,手术有效率为87%（13/15）;预防性手术后视力均稳定在术前水平,手术有效率为100%（5/5）。结论经颅显微视神经管减压术是治疗及预防额-眶骨纤维结构不良致视力下降的有效方法,对于治疗性手术而言,早期手术视力可望改善。     

Simple Decompression of the Ulnar Nerve for Cubital Tunnel Syndrome

Objective

Cubital tunnel syndrome is the second most common entrapment neuropathy of the upper extremity. Although many different operative techniques have been introduced, none of them have been proven superior to others. Simple cubital tunnel decompression has numerous advantages, including simplicity and safety. We present our experience of treating cubital tunnel syndrome with simple decompression in 15 patients.

Methods

According to Dellon''s criteria, one patient was classified as grade 1, eight as grade 2, and six as grade 3. Preoperative electrodiagnostic studies were performed in all patients and 7 of them were rechecked postoperatively. Five patients of 15 underwent simple decompression using a small skin incision (2 cm or less).

Results

Preoperative mean value of motor conduction velocity (MCV) within the segment (above the elbow-below the elbow) was 41.8±15.2 m/s and this result showed a decrease compared to the result of MCV in the below the elbow-wrist segment (57.8±6.9 m/s) with statistical significance (p<0.05). Postoperative mean values of MCV were improved in 6 of 7 patients from 39.8±12.1 m/s to 47.8±12.1 m/s (p<0.05). After an average follow-up of 4.8±5.3 months, 14 patients of 15 (93%) reported good or excellent clinical outcomes according to a modified Bishop scoring system. Five patients who had been treated using a small skin incision achieved good or excellent outcomes. There were no complications, recurrences, or subluxation of the ulnar nerve.

Conclusion

Simple decompression of the ulnar nerve is an effective and successful minimally invasive technique for patients with cubital tunnel syndrome.     

Bilateral Optic Neuropathy with Bilateral Putaminal Lesions: A Case Report

Bilateral optic neuropathy with bilateral putaminal lesions may be caused by methanol or cyanide poisoning or mitochondrial disorders including Leber hereditary optic neuropathy and Leigh syndrome. We report the case of a 34‐year‐old Japanese man who developed bilateral visual loss 5 days after the development of gastrointestinal symptoms. Magnetic resonance imaging of the brain on admission revealed high‐intensity signal areas in the bilateral putamina on diffusion‐weighted and T2‐weighted images as well as a high‐intensity signal area in the left middle cerebellar peduncle that had been identified 3 years previously. We diagnosed bilateral optic neuropathy with bilateral putaminal lesions caused by preceding infection‐triggered demyelination. We administered methylprednisolone, but his vision did not recover.     

Cervical Fibrous Dysplasia Presenting as a Pathologic Fracture in an Older Patient

Vertebral involvement of fibrous dysplasia (FD) is rare, especially in the cervical spine. Moreover, cervical FD presenting as a pathologic fracture in older patients is extremely rare. We report a case of symptomatic cervical FD associated with pathologic fracture in a 63-year-old man. The patient presented with progressive weakness of the left arm and pain in the shoulder and arm. Radiologic studies revealed a collapsed and typical ''ground glass'' radiolucency of C4. Multiple lytic lesions involved the odontoid process of C2 and the body, left pedicle, and posterior elements of C4. Combined anterior and posterior decompression and reconstruction were performed. Post-operatively, the histopathologic examination confirmed FD. On the post-operative follow-up examination, the neurologic deficits had completely resolved.     

Occurrence of pituitary adenoma in craniofacial fibrous dysplasia: a neuroendocrine and neuroradiological case study

An 18 year old man with fibrous dysplasia of bone and several endocrine abnormalities was investigated. Laboratory tests showed high levels of prolactin, TSH and GH and low levels of testosterone and LH. TRH and GnRH showed normal responsiveness of the pituitary in spite of the high hormonal levels. The circadian rhythms disclosed no abnormalities of hypothalamic control. The neuroradiological study revealed pathological tissue but no positive sign of a pituitary adenoma, although the sella turcica polytomograms did suggest erosion of the floor. Our data are compatible with the presence of a mixed adenoma or adenomas of the pituitary. We emphasize the importance of a correct study, including neuroradiological and neuroendocrine investigations, in patients with fibrous dysplasia of bone.

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Sommario Riportiamo il caso di un paziente di 18 anni affetto da una displasia fibrosa dell'osso con varie anomalie endocrine. Gli esami ormonali rivelarono alti livelli di prolattina, TSH e GH e bassi livelli di testosterone e LH. I test al TRH ed al GnRH mostrarono una normale risposta ipofisaria nonostante gli alti livelli basali di alcuni ormoni. I ritmi circadiani erano conservati. Gli esami neuroradiologici effettuati (TAC, stratigrafia della sella e cisternografia con metrizamide) non rivelarono alcun segno sicuro di adenoma ipofisario se non la probabile erosione del pavimento della sella segnalato dalla stratigrafia. I nostri dati sono in accordo con la presenza di un adenoma misto dell'ipofisi e di più adenomi. In conclusione segnaliamo l'importanza di un corretto studio neurologico e neuroendocrino della displasia fibrosa dell'osso particolarmente in quella a localizzazione cranica.

     

Brain barrier dysfunction in Cuban Epidemic Optic Neuropathy

Background and purpose:  There are practically no references to cerebrospinal fluid(CSF) studies in tropical or nutritional neuropathies. In the present paper we present the results of CSF studies in patients with Cuban Epidemic Optic Neuropathy (CEON) during epidemic and endemic periods, with an appraisal as to the contribution of brain barriers' function in the pathophysiology of this disease.
Methods:  Two hundred and five patients with CEON were studied during the epidemic period (1992–1993) and 12 patients outside the outbreak (1995–1997). CSF protein determination and electrophoresis were carried out, as well as serum and CSF albumin and immunoglobulin G (IgG) quantitation for calculating IgG and Q _alb indexes, in order to evaluate intrathecal IgG synthesis and the permeability of the blood–CSF barrier (B-CSF B).
Results:  One fourth of the patients had increased permeability of the B-CSF B, but damage was more frequent between 16 and 60 days from onset of disease, disappearing after 120 days. B-CSF B dysfunction was more prevalent in patients with severe neurological impairment, although it was not related to the severity of ophthalmological damage. The group of patients studied outside of the outbreak (endemic period) showed similar results.
Discussion:  The possible association of increased permeability of the B-CSF B with oxidative stress, which lies on the basis of this epidemic outbreak, is discussed.     

显微手术治疗额-眶-蝶骨纤维异常增殖症

目的 探讨额-眶-蝶骨纤维异常增殖症的手术指征,评价一期进行病变骨切除+患侧视神经管减压+计算机塑形钛网颅骨缺损修补术的手术效果.方法 回顾性分析2007~2010年收治的15例额-眶-蝶骨纤维异常增殖症患者的临床资料,均通过一期进行病变骨切除+患侧视神经管减压+计算机塑形钛网颅骨缺损修补术治疗.结果 全部病例的病变骨质病理学检查结果均为骨纤维性结构不良.术后随访1~4年,15例患者20只视力受影响的眼中9只视力改善,11只视力稳定,无视力减退及明显副损伤;患者面容皆明显改观,效果满意.结论 累及额-眶-蝶骨的颅骨纤维异常增殖症伴视力下降的患者应尽早手术治疗,一期行病变骨切除+患侧视神经管减压+计算机塑形钛网颅骨缺损修补术,可有效防止视力下降、美观面容.     

Charles Bonnet Syndrome Following Trans-Sphenoidal Adenomectomy without Optic Nerve Atrophy

Charles Bonnet syndrome (CBS) can develop after trans-sphenoidal adenomectomy (TSA); however, the neural mechanisms remain unknown. Sensory deprivation and releasing phenomenon are both hypothetical explanations for this condition; however, there is no definite evidence that strongly supports either supposition. We report the first case of CBS after TSA without optic nerve atrophy. Postoperatively, the patient''s vision seemed to be relatively well preserved, apart from the left-side hemianopsia in the right eye. Distinctive visual hallucinations only appeared when his eyes were closed, and these responded to quetiapine in a dose-dependent manner. Dose dependent change in colors and formation of hallucination was reported. Two weeks after quetiapine initiation, the patient''s CBS was completely resolved. This unique case suggests that blocking sensory input from the periphery is more critical than neural damage of the bottom-up connection to the visual association cortex. In addition, quetiapine should be considered as a specific treatment for CBS.     

经颅硬膜外入路骨纤维发育不良性视神经管狭窄减压术疗效分析

目的 探讨视神经管狭窄减压术治疗累及视神经管的骨纤维发育不良的机制、方法、效果及时机.方法 对18例以每侧眼为单位患者行视力、CT、眼底像、OCT检查,手术组21侧行经颅硬膜外入路,其中19侧切除视神经管上壁、外侧壁和内壁病变,另有2侧切除视神经管眶口病变;非手术组15侧随访,其中1侧视力下降后手术.对不同组的视力变化进行非参数检验.结果 治疗性手术组15侧,视力有效率14/15,预防性手术6侧,视力不变(P=0.012),视神经管再次狭窄5侧,其中视力下降1侧(P=o.080).OCT改变符合筛板压力失衡原理.结论 在筛板压力失衡原理指导下,采取经颅硬膜外入路切除视神经管上壁、外侧壁和内壁病变,预防视神经二次损伤效应,可以改善和稳定视力.     

肘管尺神经显微减压术治疗糖尿病性上肢周围神经病

目的探讨肘管尺神经显微减压术治疗糖尿病性上肢周围神经病的疗效。方法应用肘管尺神经显微减压、肌下转位术治疗6例（9侧手）糖尿病性上肢周围神经病患者。结果平均随访20个月。6例糖尿病性上肢周围神经病患者9侧手部麻木、、疼痛症状术后100％缓解，手部力弱、运动功能不良症状术后缓解率55．6％（5／9），随访期间症状无复发。并发症有手术切口愈合不良1侧（11．1％，1／9）。结论周围神经显微减压术是治疗糖尿病性上肢周围神经病的有效方法，其改善手部感觉障碍的疗效好于改善运动功能不良的疗效。     

Sturge-Weber综合征伴皮层发育不良1例并文献复习

目的探讨Sturge-Weber综合征的临床特点、影像学特征、病理诊断及鉴别诊断。方法分析1例8岁女性Sturge-Weber综合征病人的临床资料、影像学特征,光镜下观察病理学形态并行免疫组化染色检查。结果CT显示左侧顶枕叶条索状钙化;MRI示左侧顶枕叶软脑膜病变,增强后强化明显,强化沿脑回分布。病理学特点表现为软脑膜的静脉性血管瘤,病变皮层下沿脑回呈带状分布的钙化灶,同时伴有皮层发育不良。免疫组化结果：发育不良神经元核抗原阳性,皮层内增生胶质细胞的胶质纤维酸性蛋白和S-100蛋白阳性。结论结合临床病史、影像学资料及病理学形态进行综合性分析才能正确诊断Sturge-Weber综合征。     

4002/植骨内固定治疗成人股骨近端纤维结构不良的临床研究（英文他译）

目的 探讨成人股骨近端纤维结构不良的手术治疗效果。方法 用病灶彻底刮除、自体和同种异体骨植骨、动力髋螺钉（DHS）/股骨近端髓内钉（PFN）内固定治疗13例成人股骨近端纤维结构不良,对治疗方式及术后疗效进行回顾性分析。 结果 所有患者术后早期不负重活动,平均3个月骨折愈合,随访18~48个月,症状缓解, X线片显示骨皮质增厚,病损植骨区内有结实的骨化;仅4例有部分骨吸收,无临床复发。结论 彻底刮除病灶、带皮质的自体和同种异体骨植骨加DHS/PFN内固定是治疗成人股骨近端纤维结构不良可靠的方法,疗效满意。     

West Syndrome and its Related Epileptic Syndromes

Summary: The purpose of this project was to study the relationship between West syndrome (WS) and its related epileptic syndromes, and reconsider the nosological limits of WS. The electroclinical features of 45 patients who experienced spasms in series were investigated, as well as some features not common in patients with WS. All patients were mentally retarded. The patients were divided into three groups: Group 1 consisted of 12 patients with refractory epilepsies with onset in early infancy, group 2 consisted of 5 patients with symptomatic localization-related epilepsies associated with spasms in series, and group 3 consisted of 28 patients with generalized epilepsies who had spasms in series after age 2 years. Partial seizures were the dominant symptom throughout the clinical course and spasms in series associated with atypical hypsarrhythmia appeared transiently during infancy in a significant number of the patients in group 1. In group 2, complex partial seizures (CPS) were the main seizure type and hypsarrhythmia was not observed during the clinical course. The EEGs in group 3 patients showed diffuse slow spike-waves or multifocal epileptic discharges in all but 1 patient. The EEG of the remaining patient still showed hypsarrhythmia at age 8 years. Therefore, group 1 patients should be classified as having WS although cortical mechanisms play a critical role in the occurrence of their seizures. Group 2 patients should be considered as having a type of localization-related epilepsy even though they share a similar pathophysiological mechanism with group 1. In group 3, 1 patient whose EEG still showed hypsarrhythmia was classified as having WS. The other patients should be classified as having generalized epilepsies other than WS.     

Fibrous dysplasia in combination with aneurysmal bone cyst presenting as a subarachnoid haemorrhage

Abstract Fibrous dysplasia (FD) is a rare tumour, representing 2.5% of all bone tumours and 7% of benign tumours. Aneurysmal bone cyst (ABC) is also an uncommon pathology, usually associated with a secondary vascular lesion consisting of an arteriovenous malformation. In this article, we relate a case report of a young female with a rare combination of FD with aneurysmal bone cyst presenting as a subarachnoid haemorrhage (SAH). Despite the possibility of clinical treatment of these lesions, this report demonstrates that symptomatic lesions may be successfully managed by surgical resection. The authors’ opinion is that this treatment should be individualised depending on particularities of each case, such as localisation of the lesion, biopsy results and image exams features. We also present a critical literature review of diagnostic methods and therapeutical options for both ABC and FD, with emphasis on controversial topics surrounding these issues.     

Epilepsy and the Electroencephalogram in Progressive Encephalopathy with Edema, Hypsarrhythmia, and Optic Atrophy (the PEHO Syndrome)

Summary: Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome) is an apparently autosomal recessive disorder manifested by infantile spasms, severe hypotonia, and early arrest of psychomotor development. Subcutaneous edema in the limbs, typical facial features, and blindness with optic atrophy are also present. Neuropathologic and radiographic studies show progressive brain atrophy, which is accentuated infratentorially. We recorded 85 EEGs from 10 patients between the ages of 3 weeks and 12.7 years; follow-up ranged from 7 months to 12.1 years. The infantile spasms were preceded by other neurological symp- toms in all patients. Seven of nine patients showed focal or generalized epileptiform activity or abnormal EEG background. All patients developed hypsarrhythmia, first recorded between 3 and 11 months of age, that was resistant to therapy with ACTH and antiepileptic drugs. After the hypsarrhythmia disappeared, five patients showed slow spike-wave activity generally seen in the Lennox-Gastaut syndrome, and three patients showed background EEG abnormality with generalized or diffuse paroxysmal activity. There were no specific EEG features that could help in the diagnosis of PEHO. The PEHO syndrome should be borne in mind in the diagnostic work-up of patients with infantile spasms, so that potentially harmful treatment can be avoided, and the parents can be counseled about the inheritability of the disorder.     

Clinical and radiological observation in a surgical series of 36 cases of fibrous dysplasia of the skull

Objectives

To describe the clinical and radiological findings in a consecutive series of patients diagnosed with fibrous dysplasia of the skull.

Patients and methods

A retrospective analysis of collected data for 36 patients with histopathologically confirmed fibrous dysplasia involving the skull is presented. The demographic data, clinical presentation, radiographic characteristics, and the management of these patients were reviewed.

Results

All 36 patients in this review were diagnosed with fibrous dysplasia involving at least part of the skull. In this study, the most commonly involved area of the skull was the frontal bone (52.78% of patients). The next most common area of skull was the temporal bone (30.56% of patients), followed by the sphenoid bone (25% of patients), the parietal bone (19.44% of patients), and orbital bone (13.89% of patients). The principal clinical presentation included headache, local lump, exophthalmos, visual disorder, cranial nerve paralysis, and facial malformation. These patients were treated by surgical treatment, and several of our patients underwent various degrees of reconstruction to optimize function.

Conclusions

Effective surgical treatment may improve the short-term outcome in these patients, and a “tailored” surgical approach is necessary.     

Optic nerve sheath fenestration and bilateral expansile cranioplasty for raised intracranial pressure in craniometaphyseal dysplasia: a case report

Introduction Raised intracranial pressure (ICP) has been previously associated with craniometaphyseal dysplasia (CMD). To our knowledge, expansile cranioplasty has not previously been described as a treatment for raised ICP in this setting. We describe our evaluation and surgical management of a patient presenting with seizures, headaches, and CMD. Case report An 18-year-old male presented with seizures, headaches, and diminished visual acuity, and was found to have chronic bilateral papilledema. Lumbar puncture demonstrated raised opening pressure (50 cm of water). Plain skeletal radiographs revealed long-bone dysplasia, and computed tomography (CT) of the head demonstrated diffuse thickening of the calvarium, diminished subarachnoid spaces, and slit ventricles. The raised ICP was managed with bilateral fronto-parieto-temporal expansile cranioplasty and right optic nerve sheath fenestration. At 6 months follow-up, the headaches and papilledema completely resolved. The visual acuity improved as did the seizure control. Follow-up CT demonstrated the normalization of the subarachnoid spaces and ventricles. Conclusion Expansile cranioplasty, in conjunction with optic nerve sheath fenestration, may represent a safe and effective treatment for raised ICP associated with CMD.