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J R Ricoy

Publications and source records attributed to J R Ricoy.

At least 19 recordsLinked to original sources
PubMed2006

[Meningioangiomatosis: report of two cases and literature review].

Meningioangiomatosis (MA) is a rare benign intracraneal lesion. The majority of cases are sporadic although the association of this lesion with familial neurofibromatosis (NF) type 2 is well known. NF-associated MA may be multifocal and is often asymptomatic and diagnosed at autopsy. Non-associated cases are usually symptomatic, occurs in children and young adults and frequently arise in leptomeninges and underlying cerebral cortex. In the present work, we describe two new non-associated cases of MA in two boys, seven and one year old with seizures that disappeared after surgical excision. Histopathologically, the lesion was predominantly cellular in one case and more fibrous in the other. From the literature review we concluded that sporadic cases present as single lesions which manifest by seizures or persistent headaches. Rarely MA has been described to coexist with meningiomas. Histopathologically, MA is characterized by a plaque-like proliferation of meningothelial and fibroblast- like cells surrounding small vessels and trapping islands of gliotic cortical tissue. The lesion does not show significant atypia, mitosis or necrosis. Although all cases of MA share unifying features, there are different degrees of histological presentation with cases predominantly cellular and others more fibrous and calcified. This could correspond to different stages in the evolution of the MA. Symptoms disappear with the complete excision of the lesion.

Adolescent↗
PubMed2005

Xanthogranuloma of the choroid plexus of the third ventricle: case report and literature review.

Xanthogranulomas of the choroids plexus (XG) are benign tumours of debatable etiology which become rarely symptomatic. Only few cases have been studied with MRI. A new case of xanthogranuloma of the third ventricle showing unusual features in the CT and MRI studies in a 47-year-old man with a 2-month history of gait and urinary disturbances and cognitive impairment is reported. The literature concerning clinical and neuroradiological presentation of intracranial xanthogranulomas is reviewed.

Choroid Plexus↗
PubMed2004

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

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.

Adult↗
PubMed2004

Oligodendroglioma and multiple sclerosis. A case report.

BACKGROUND: The concurrence of multiple sclerosis (MS) and glioma is uncommon. Approximately 30 cases have been reported, but in only six of them the tumour was pure or mixed oligodendroglioma. The appearance of new neurological symptoms and signs in a patient with multiple sclerosis is usually attributed to a relapse of this disease and neuroradiological studies are not always performed. When done, the finding of a new focal mass lesion is usually interpreted as a pseudotumoural plaque. CASE REPORT: A 37-year-old man was admitted because of partial simple seizures and an enlarging intracranial mass. He had been diagnosed of MS eleven years earlier. A MRI study performed eight years before admission showed a large mass in the right frontal lobe which was thought to be a pseudotumoural plaque. Two years later, he developed simple partial motor seizures that were initially controlled with valproic acid. He remained well until three months before admission, when seizures reappeared with a poor response to valproic acid. A new MRI study showed an heterogeneous right frontal enlarging mass lesion. A primary neoplasm was suspected and a subtotal removal was performed. The pathological diagnosis was oligodendroglioma with a periferic demyelinating area. CONCLUSION: Atypical MRI lesions in a patient with MS must be carefully interpreted. Pseudotumoural plaques have been described both clinically and radiologically to be hardly distinguishable from a tumoural lesion and histological confirmation is often required. The association between MS and glioma is uncommon but it must be kept in mind when a mass lesion develops in a patient with MS.

Adult↗
PubMed2004

[Silent corticotroph adenomas: presentation of two cases that presented with pituitary apoplexy].

Among the group of pituitary adenomas surgically treated, about 25-30% are not associated with clinical or analytical findings of hormonal hypersecretion. The development of immunohistochemical techniques has allowed the demonstration of a subgroup of adenomas that show immunoreactivity against several hormones among the group of, apparently, non-functioning adenomas. This subgroup has been called silent adenomas. Silent adenomas positive for ACTH show a singular clinical picture and different from those adenomas producing Cushing's disease, as they present more frequently as macroadenomas, with more frequent pituitary apoplexy, invasion of cavernous or sphenoidal sinus and recurrences. We present two new cases of silent corticotroph adenomas in two female patients that presented with pituitary apoplexy, one of them after giving birth after a normal full-term pregnancy. Both of them presented with macroadenomas that invaded the sphenoidal and cavernous sinus. Although both tumors were immunoreactive for ACTH, none of the patients presented clinical or analytical findings compatible with Cushing's disease.

Adenoma↗
PubMed2004

[Eyelid and cutaneous lesions as the sole indicators of tuberous sclerosis].

CASE REPORT: A 53-year old woman presented a tuberous sclerosis complex (Bourneville's disease) characterised by facial cutaneous angiofibromas, periungual fibromas and cutaneous leaf-shaped macules in the thorax. She also presented two neoplasms in the left lower eyelid which were histopathologically diagnosed as angiofibromas. There were no other ophthalmologic or systemic findings. DISCUSSION: Tuberous sclerosis complex is an autosomical dominant neurocutaneous phakomatosis in which up to 80% of cases represent new mutations, characterized by mental retardation, epilepsy and angiofibromas. Incidence is very low and ophthalmic presentation with isolated cutaneous angiofibromas is most unusual.

Angiofibroma↗
PubMed2004

Solitary fibrous tumor of the tentorium cerebelli. Case report.

Solitary fibrous tumor (SFT) is a mesenchymal neoplasm that has been recognized to occur almost all along the organism. Since its description in 1996 at the meninges, a total of 59 cases of meningeal SFT have been reported. Different authors have emphasized the difficulties in the differential diagnosis with other more frequent meningeal neoplasms such as meningioma or hemangiopericytoma, as the clinico-radiological characteristics of this lesion seem to be non specific and the morphological features on pathological study may resemble other spindle cell neoplasms. The diffuse and strong reactivity for CD34 and the negativity for EMA and S-100 are data allowing the diagnosis of SFT. We report the case of a 50-year-old woman suffering from headache, in whom MRI study showed a tentorial lesion initially thought to be a meningioma. In spite of morphological similarities with a fibrous meningioma, inmunohistochemical study finally led to the diagnosis of SFT. As occurred in previous cases, the findings in our patient reflect the similarities in clinico-radiological and pathological characteristics between meningeal SFT and other spindle cell meningeal neoplasms, mainly fibrous meningioma. When a clear diagnosis cannot be done based on typical findings on conventional hematoxylin-eosin study, inmunohistochemical study should be performed in meningeal spindle cell lesions to exclude SFT.

Cranial Fossa, Posterior↗
PubMed2003

Two pathogenic mutations in the mitochondrial DNA tRNA Leu(UUR) gene (T3258C and A3280G) resulting in variable clinical phenotypes.

We studied two patients with ragged-red fibers and combined defects of the mitochondrial respiratory chain in their muscle biopsy. One had mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes, and harbored a T3258C transition in the tRNA(Leu(UUR)) gene. The other showed myopathy plus cardiomyopathy and had an A3280G mutation in the same gene. Both mutations were heteroplasmic, abundant in muscle of the patients, less abundant in blood, and still less abundant in blood from their maternal relatives. In both patients, single muscle fiber analysis revealed greater abundance of mutant genomes in ragged-red fibers than in normal fibers, supporting the pathogenicity of both mutations.

Acidosis, Lactic↗
PubMed2003

Eyelid phakomatous choristoma.

PURPOSE: To report a case of congenital phakomatous choristoma (PC) of the eyelid, a rare tumor of lenticular anlage in the subcutaneous tissue and dermis. CASE: A boy had a mass in the right lower eyelid near the inner canthus at birth. At age 10 months, the tumor was excised. RESULTS: The tumor cells showed intense immunoreactivity positive for S-100 protein, vimentin, and periodic acid-Schiff. Keratin markers, epithelial membrane antigen, glial fibrillary acidic protein, muscle specific actin, and epithelial membrane antigen were negative. The histopathologic features were consistent with those of a PC. CONCLUSIONS: This histopathologic and immunoreactivity study supports the proposal that PC is a rare entity of lenticular anlage origin. Only 18 such cases have been described previously.

Biomarkers↗
PubMed2002

Giant cell reparative granuloma of the occipital bone.

Giant cell reparative granuloma (GCRG) is a non-neoplastic fibrous lesion with unevenly distributed multinucleated giant cells, areas of osseous metaplasia and hemorrhage. The small bones of the hands and feet are the most common sites, followed by the vertebral bodies and craniofacial bones. In the craniofacial bones GCRG has been reported in the temporal bone, in the frontal bone and paranasal sinus. However, to the best of our knowledge no case has been reported in the occipital bone. We report on the imaging findings and pathological features of a GCRG of the occipital bone and discuss the differential diagnosis of this entity in this particular location, especially with giant cell tumor because of the therapeutic and prognostic implications.

Bone Diseases↗
PubMed2002

Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy.

We report a patient with progressive external ophthalmoplegia (PEO), exercise intolerance, and deafness after aminoglycoside exposure, harboring two pathogenic mutations in her mtDNA: an A1555G in the 12S rRNA gene and a G4309A in the tRNA(Ile) gene. Muscle histochemistry showed abundant ragged-red fibers, and biochemistry revealed normal respiratory chain function. The A1555G mutation was homoplasmic in blood from the proband and from all maternal relatives. The G4309A mutation was abundant in the proband's muscle, less abundant in her blood, still less abundant in the mother's blood, and absent in blood from other maternal relatives. Family members were asymptomatic. Our data suggest that the former mutation resulted in aminoglycoside-induced deafness and the latter caused PEO plus exercise intolerance.

Adult↗
PubMed2002

Intracranial extraskeletal myxoid chondrosarcoma: case report and review of the literature.

BACKGROUND: We describe a patient with an intracranial extra skeletal myxoid chondrosarcoma (EMC), an unusual neoplasm of the deep soft tissues of the extremities. Very rarely are they localised as an intracranial lesion, and we believe it is very important to accurately distinguish EMC from other intracranial tumours such as classical or "skeletal" chondrosarcomas, mesenchymal chondrosarcoma, enchondroma, and myxoid tumours (chordoma, and chondromyxoid fibroma) in order to determine their prognostic implications. Furthermore, this case presents with the second local recurrence, higher-grade cellular areas, such an event has never been reported in intracranial cases. METHOD: A 17 year-old female presented with tonic and clonic seizures, episodic left hemiplegia and intense right-sided headaches. Computed tomography and magnetic resonance of the skull showed a right fronto-parietal cortical lesion. Complete surgical excision of the lesion through a right parieto-temporal craniotomy was performed. The tumoral lesion recurred locally twice (16 and 19 months after the initial surgery respectively). FINDINGS: First and second surgical specimens where diagnosed as extra skeletal myxoid chondrosarcoma. Microscopically, the third specimen (second local recurrence) showed abrupt transition from areas of conventional myxoid chondrosarcoma to high-grade cellular areas with fusiform features. INTERPRETATION: Extra skeletal myxoid chondrosarcoma is very rarely described as an intracranial lesion. Reference on this topic is very confusing as there is no clear-cut distinction between skeletal chondrosarcomas with prominent myxoid matrix and extra skeletal myxoid chondrosarcoma which is a definite entity first defined by Enzinger and Shiraki in 1972 in deep soft tissues of the extremities. We review the cases reported in the literature with the diagnosis of myxoid chondrosarcoma either of extra skeletal origin or with skeletal attachment, and analyse their clinic and pathological features.

Adolescent↗
PubMed2002

[Benign hair-follicle derived eyelids tumors in adults].

PURPOSE: Benign eyelid neoplasms derived from hair follicles are frequently misdiagnosed, including pilomatricoma, trichoepithelioma, trichilemmoma, trichoblastoma and inverted follicular keratosis. METHODS: We reviewed 17 tumors seen in the last 9 years, between 1992 and 2002. Excisional biopsy constituted the treatment in all cases. RESULTS: The mean age was 44.5 years (range 13-80 years). Ten were women and 7 men. Pilomatricoma and trichoepithelioma accounted for 76.5% of all neoplasms. All trichoepitheliomas were found as solitary tumors and no patient had a history of familial trichoepithelioma. The remaining neoplasms (23.5%) were trichilemmomas, trichoblastoma and inverted follicular keratosis. No patient recurred locally and there were no malignant transformations after a mean follow-up of 3.1 years. The most frequent hair follicle neoplasms in our series was pilomatricoma (9 cases). CONCLUSIONS: Benign hair follicle neoplasms are rare in the eyelid. Most can simulate a basal cell carcinoma when evaluation is based on clinical evidence alone, and only the pilomatricoma may resemble a benign neoplasm. Thereby they must be excised with free surgical margins. All excised eyelid lesions should be sumitted for histopathologic examination because it is not possible to obtain 100% accuracy in diagnosing eyelid tumors.

Adolescent↗
PubMed2001

Intracranial hemangiopericytoma: study of 12 cases.

Most hemangiopericytomas (HPCs) are located in the musculoskeletal system and the skin, while the intracranial location is rare. They represent 2 to 4% in large series of meningeal tumours, thus accounting for less than 1% of all intracranial tumours. Many authors have argued about the true origin of this tumour. The current World Health Organization classification of Central Nervous System tumours distinguishes HPC as an entity of its own, and classified it into the group of "mesenchymal, non-meningothelial tumours". Radical surgery is the treatment of choice, but must be completed with postoperative radiotherapy, which has proved to be the therapy most strongly related to the final prognosis. HPCs have a relentless tendency for local recurrence and metastases outside the central nervous system which can appear even many years after diagnosis and adequate treatment of the primary tumour. Twelve patients with intracranial HPC were treated at our Unit between 1978 and 1999. There were 10 women and 2 men. Ten tumours were supratentorial and most located at frontoparietal parasagittal level. The most common manner of presentation was a focal motor deficit. All tumours were hyperdense in the basal Computed Tomography scans and most enhanced homogeneously following intravenous contrast injection. In 50% of cases, tumour margins were irregular or lobulated. Seven tumours were studied with Magnetic Resonance Imaging, being six of them iso-intense with the cortical gray matter on T1-weighted and T2-weighted images. Twenty operations were performed in the 12 patients. In 10 cases radical excision could be achieved with no operative mortality. Total recurrence rate was 33.3%. Eight patients were treated with external radiotherapy at some time through the course of their disease. Eight out of the 12 patients in this series are disease-free (Glasgow Outcome Scale categories 1 and 2) after a mean follow up of 52 months.

Adolescent↗
PubMed2001

Primary cutaneous adenoid cystic carcinoma of the eyelid.

PURPOSE: To report a case of primary cutaneous adenoid cystic carcinoma involving the eyelid. METHODS: We examined a 70-year-old woman with an 18-month history of a gradually enlarging, blue-colored mass in the medial third of the right upper eyelid. Excisional biopsy and additional resection of the medially infiltrated margin resulted in tumor-free edges. Superior cervical and orbital evaluations were performed. RESULTS: Histopathologic evaluation revealed a primary cutaneous adenoid cystic carcinoma. No gland pathology was documented. No tumor recurrence has been noted. CONCLUSION: Primary cutaneous adenoid cystic carcinoma, an uncommon tumor of the skin, should be added to the differential diagnosis of eyelid tumors.

Aged↗
PubMed2001

Ganglioglioma of the brainstem: report of three cases and review of the literature.

BACKGROUND: Brainstem gangliogliomas are rare low-grade tumors that usually have a long clinical history. However, they may cause sudden death. There are only 31 cases of brainstem ganglioglioma reported in the literature, and only one has been studied with magnetic resonance (MR). We present three new cases of brainstem ganglion cell tumor studied with computed tomography (CT) (3 cases) and MR (2 cases) and discuss the clinical presentation, diagnostic imaging and treatment of these tumors. CASE DESCRIPTION: Age at presentation ranged from 19 to 59 years old. Two patients were female and 1 male. Duration of symptoms before diagnosis ranged from 1 year to nearly 14 years. Presenting complaints included syncope spells, cranial nerve deficits, headache, and gait instability. Imaging studies revealed well-circumscribed lesions involving the brainstem; the lesion was cystic in one case and calcified in one. They were iso- or hyperdense on CT scan, isodense on T1-weighted and hyperdense on T2-weighted MRI and frequently showed contrast enhancement. All tumors were operated through a posterior fossa craniectomy. Using microsurgical techniques only partial resection could be achieved, as there was no sharp delineation from the surrounding tissue in any case. Two of our patients had increased neurological deficits after surgery. Radiotherapy was not given. Follow-up of tumoral remnants has not shown clear tumor growth after 1, 3.5, and 10 years. CONCLUSIONS: Imaging characteristics of brainstem gangliogliomas do not seem to differ from those in other locations and are not specific. Radical surgery is rarely if ever possible, nor is it advisable because of the risk of functional deterioration. However, because of their benign histology, partial resection seems to carry a similar prognosis as tumors in other locations that are amenable to complete resection.

Adult↗
PubMed2001

Cerebral lymphoma presenting as a leukoencephalopathy.

Cerebral lymphoma is infrequent in immunocompetent patients. This tumour usually appears on CT and MRI as a single lesion or as multiple lesions with mass effect and homogeneous enhancement after contrast administration. A patient is described with a cerebral lymphoma, confirmed by histopathological examination, who presented as a progressive leukoencephalopathy.

Brain Neoplasms↗