Lhermitte-Duclos disease (diffuse hypertrophy of the cerebellum). Report of two cases

Summary Two cases of Lhermitte-Duclos disease or diffuse hypertrophy of the cerebellum are presented. This brings the total number of such cases reported in the literature to 42. Pathologically the disease is characterized by a circumscribed cerebellar lesion consisting of thickening of the cortex with closely packed dysplastic ganglion cells in the granular layer and with large myelinated axons in the molecular layer. Purkinje cells are missing and the central white matter is greatly reduced.The first patient, a man 39 years of age, had, in association to the cerebellar lesion, a megalencephalic brain (2320 g). He had suffered from epilepsy since he was 24-years-old and died with metastasizing colon carcinoma. An electron microscopic study of the cerebellar lesion disclosed perikarya containing large amounts of rough endoplasmic reticulum, cell processes filled with coated and dense core vesicles. In addition, there were numerous enlarged myelinated axons in the molecular layer.The second patient, a woman 74 years of age, had a small area of diffuse hypertrophy of the left cerebellar hemisphere measuring one centimeter in diameter.Specific symptoms were very scant in the first case and absent in the second one indicating a very slow evolution — if any — of the disease process. The etiology and pathogenesis remain unknown. However, the organoid structure of the lesion, the frequent association of megalencephaly and other congenital abnormalities, and the occurrence of familiar cases would favor the disease being basically a developmental disorder.Dedicated to Professor Dr. K. J. Zülch on the occasion of his 70th birthday.     

Lhermitte-Duclos disease and Cowden's syndrome. Report of two cases

OBJECTIVE AND IMPORTANCE: Lhermitte-Duclos disease, or dysplastic cerebellar gangliocytoma is a rare entity characterized by a hamartomatous lesion in the posterior fossa. Cowden's syndrome, or hamartoma-neoplasia syndrome is a rare underdiagnosed autosomal dominant genodermatosis with high incidence of malignant tumors. Several recent reports suggest that Lhermitte-Duclos disease may be a component of Cowden's syndrome. CLINICAL PRESENTATION: We report two cases of Lhermitte-Duclos and Cowden disease occurring in adult patients. A 40-year-old woman had symptoms of raised intracranial pressure and macrocephaly. She displayed the stigmata of fibrocystic breast disease, thyroid goitre. Clinical examination showed mucocutaneous lesions. Her mother, brother and uncle had manifestations of Cowden's disease. An asymptomatic 38-year-old male had bilateral optic nerve drusen related to a cerebellar neoplasm. He exhibited manifestations of Cowden's syndrome and his familial history confirmed this hypothesis. INTERVENTION: The first patient was operated on for Lhermitte-Duclos disease. A conservative strategy was performed for the second patient and the clinical and imaging follow-ups were uneventful over 5 years. CONCLUSION: We stress the possibility that Lhermitte-Duclos and Cowden disease might be a peculiar form of phakomatosis. A conservative strategy can be chosen without neurological signs because of slow tumor growth. However, these patients should be carefully examined and followed up because of the risk of future malignancy.     

Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review

Summary Background. Lhermitte-Duclos Disease (LDD) is an infrequent cerebellar disorder characterized by focal or diffuse enlargement of cerebellar folia presenting as a slowly growing mass in the posterior fossa. Over the past decade its association with Cowden disease (CD) has been recognized with increasing frequency. This latter disease is a genetic condition leading to the presence of multiple hamartomas and neoplasias which affect mainly the skin, thyroid, breast and genito-urinary and gastro-intestinal tracts. It has even been hypothesized that LDD and CD constitute a single entity. This work is aimed to analyse to what extent this association was present in patients treated for LDD at our institution. Method. We reviewed the medical records of five patients and performed clinical studies for CD manifestations, among them, genetic investigation for PTEN mutations. The International Cowden Consortium Criteria were applied for the diagnosis of CD. Findings. Four of the five patients treated for LDD were also diagnosed of CD. The genetic study found PTEN mutations in two of them. Interpretation. LDD has been found to be closely related to CD in this series, in accordance with previous literature. However, the absence of CD diagnosis in one of the patients led us to suggest that, despite the strong association between these two diseases, LDD can also appear as an isolated condition.     

Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma)

This case report describes an adult male presenting with ataxia. Dysplastic cerebellar gangliocytoma, the Lhermitte-Duclos disease, was diagnosed on neuroimaging. Diagnosis was confirmed on histopathology of surgically removed lesion. Patient underwent an uneventful recovery following operative treatment.     

Dysplastic gangliocytoma of the cerebellum: Rare differential diagnosis in space occupying lesions of the posterior fossa

Dysplastic gangliocytoma of the cerebellum (Lhermitte-Duclos) is a rare space occupying lesion of the posterior fossa with some typical neuroradiological features which can be better diagnosed in the MRI era. This is the major CNS manifestation of Cowden disease. In recent years more publications underlined the association of these hamartomatous lesions. We add another patient with a dysplastic gangliocytoma of the cerebellum who also had a thyroid adenoma and fulfilled the criteria of having Cowden disease.A problem of surgical removal of these tumors is missing the borderline between tumor and healthy cerebellum tissue so that incomplete removal of the tumor is not rare. Surgical removal of these tumors in an open MRI unit would be a good indication.     

Magnetic resonance imaging in the diagnosis and treatment of Lhermitte-Duclos disease (dysplastic gangliocytoma of the cerebellum)

Lhermitte-Duclos disease is a rare disorder characterized by a slowly enlarging mass lesion in the cerebellum. The pathophysiology of the disease is poorly understood, but recent reports have suggested that a clinically significant mass may recur many years after total gross removal of the tumor. Computed tomography and angiography have been relatively insensitive in imaging the tumor either at presentation or during the postoperative period. The authors present three patients with histologically proven Lhermitte-Duclos disease who have undergone magnetic resonance imaging (MRI). In the first case, preoperative T1- and T2-weighted images clearly demonstrated the location and extent of the lesion, which was verified at operation. In the other two cases, only postoperative images were obtained. These demonstrated the extent of residual tumor and indicate a high probability of lesion expansion during periods of 4 and 10 years, respectively. We conclude that MRI is an important tool in both the diagnosis and the treatment of patients with Lhermitte-Duclos disease.     

Recurrent dysplastic cerebellar gangliocytoma (Lhermitte-Duclos disease) presenting with subarachnoid haemorrhage.

A case of dysplastic cerebellar gangliocytoma recurring after 20 years and representing with subarachnoid haemorrhage is described. Evidence in favour of a neoplastic pathogenesis is presented.     

Lhermitte-Duclos disease (dysplastic gangliocytoma): A case report with CT and MRI

A 31 year old female was admitted with a one month history of left foot drop and diplopia. CT of the posterior fossa revealed gross displacement of the 4th ventricle by a large non-enhancing cerebellar mass but gave no indication of its nature. MRI sequences showed two masses within the left cerebellar hemisphere extending into the vermis and demonstrated a very unusual septation within the lesion. In addition both cerebellar tonsils were displaced below the foramen magnum and there was a syrinx extending from C2 to the conus. At operation a demarcated lesion was excised from the apparently normal surrounding cerebellar tissue and proved histologically to be Lhermitte-Duclos disease. We believe that these are the first diagnostic magnetic resonance images of this condition.     

Orthostatic hypotension from a cerebellar gangliocytoma (Lhermitte-Duclos disease). Case report

A 49-year-old woman presented with orthostatic hypotension. Vertebral angiography and ventriculography revealed a tumor of the left cerebellar hemisphere. Ventriculoperitoneal shunting was followed by complete disappearance of the orthostatic hypotension. The tumor was subsequently removed and microscopic study showed Lhermitte-Duclos disease. Orthostatic hypotension has been rarely reported in association with tumors of the posterior fossa except for those tumors destroying the medullary centers and interrupting the baroreceptor reflex arc. This case is of interest because the tumor was restricted to the cerebellum. The authors have found no previous case in which orthostatic hypotension was a presenting symptom of Lhermitte-Duclos disease.     

Granulomolecular hypertrophy of the cerebellum (Lhermitte-Duclos disease). Case report

The clinical features and pathology of granule cell hypertrophy of the cerebellum (Lhermitte-Duclos disease) are described in a 30-year-old man. The patient, who underwent successful surgery, is the eighth reported survivor of this disease. Whether the disease is neoplastic or dysplastic is still unknown, but the lesion has growth potential, and consequently the proper treatment is surgical resection. A cerebrospinal fluid shunt was only temporarily effective in this case.     

Lhermitte-Duclos disease. Granulomolecular hypertrophy of the cerebellum

A case of Lhermitte-Duclos disease is reported. The onset is unusually sudden in a 16 years-old girl. However cerebellar lesions and hydrocephalus are of long duration as showed the skull base anomalies. This slow evolution is the rule in many cases previously reported, which suggests that the disease is due to a dysplasic disorder, perhaps one of cellular differentiation of the cerebellar cortex.     

Ultrastructural study of a cerebral gangliocytoma

A pure cerebral gangliocytoma leaving no sign or symptom of recurrence after surgical removal is reported, with special reference to its CT scan and the ultrastructural findings. Unusual, large, dense bodies having the size of 800-1200 m mu and radiating from a central core were identified on the ultrastructural study. Microcystic formations might have been produced by active secretory granules containing dense core vesicles. The literature concerning the dense core vesicle of ganglion cell tumors is reviewed.     

Glial cysts of the cerebellum

Two cases of nontumorous glial cysts of the cerebellum are presented. This rare entity, perhaps a degenerative form of cerebellar astrocytoma, must be considered in the differential diagnosis of cystic lesions of the cerebellum.     

后腹腔镜下肾错构瘤切除术的临床观察(附5例报告)

目的探讨后腹腔镜下肾错构瘤节除术的操作要点及临床价值。方法对我科自2004年8月至2006年1月,5例错构瘤患者在后腹腔镜下行肿瘤剜除术和肾部分切除术进行回顾性分析。结果5例手术全部获得成功,平均手术时间为85min,平均血量95ml,平均术后住院时间为6.8d,手术效果好无,并发症。结论该术式肿瘤切除彻底,创伤小,出血少,恢复快,有推广应用价值。     

MRI在Perthes病中的应用进展

MR I通过高低不同的信号强度来反应Perthes病患儿股骨头的代谢变化,Perthes病基本表现为早期T1像骨骺出现低信号,T2像出现强度不一的信号。随着修复进行,信号强度逐渐增高。通过MR I上股骨头的外形及信号特点还可以对病情的预后做出判断。此外MR I还可以鉴别其他儿童髋关节疾病,以选择正确的治疗方案。显示出MR I是诊治Perthes病的一种很有用的辅助检查方法。     

Complete absence of the cerebellum with arthrogryposis multiplex congenita diagnosed by CT scan

A 4-month-old female infant with arthrogryposis multiplex congenita was found by computed tomography to have total absence of the cerebellum. Coexistence of these uncommon conditions is extremely rare and consanguinity may suggest the existence of a genetic factor.     

MRI强化程度鉴别诊断小脑囊实性血管母细胞瘤与毛细胞星形细胞瘤

目的探讨MRI强化程度对鉴别诊断小脑囊实性血管母细胞瘤与毛细胞星形细胞瘤的价值。方法回顾性分析经手术病理证实的30例小脑囊实性血管母细胞瘤及30例毛细胞星形细胞瘤患者的MRI资料,检测病灶实性成分强化程度值,绘制ROC曲线,评价实性成分强化程度值对鉴别诊断二者的效能。结果血管母细胞瘤中,15例为囊腔结节型、15例为实性肿块伴囊变型,实质部分均明显均匀强化;毛细胞星形细胞瘤中,11例为囊腔结节型、19例为实性肿块伴囊变型,21例实质部分均匀强化、9例不均匀强化。血管母细胞瘤实质部分强化程度值为4.20(3.28,4.84),毛细胞星形细胞瘤为1.95(1.49,2.43)(F=72.69,P0.01)。以实性成分强化幅度值2.58为阈值,诊断小脑囊实性血管母细胞瘤的特异度和敏感度分别为88.9%和92.9%,AUC为0.95。结论肿瘤实性成分MRI强化程度有助于鉴别小脑囊实性血管母细胞瘤与毛细胞星形细胞瘤。     

在DSA下介入性栓塞治疗肾错构瘤9例报告

在数字减影血管造影条件下采用Ｓｅｌｄｉｎｇｅｒ技术对９例肾错构瘤患者进行超选择介入治疗，即在明确病变部位供血动脉后，超选择将导和尖端置入靶血管，最后给予无水乙醇及明胶海绵进行介入性栓塞治疗，使错构瘤组织完全灭活坏死。     

Perirenal tailgut cyst (cystic hamartoma)

Tailgut cysts are rare congenital multicystic lesions preferentially occurring in the retrorectal space. They are assumed to arise from the remnant of embryonic tailgut and occasionally exhibit malignant transformation. The authors herein describe the clinical, radiologic, and pathologic features of an unusual perirenal tailgut cyst with an emphasis on its histogenesis and distinction from other intraabdominal cystic lesions.