Search results for " DIAGNOSIS"
showing 10 items of 1378 documents
Branching enzyme deficiency/glycogenosis storage disease type IV presenting as a severe congenital hypotonia: muscle biopsy and autopsy findings, bio…
2010
The fatal infantile neuromuscular presentation of branching enzyme deficiency (glycogen storage disease type IV) due to mutations in the gene encoding the glycogen branching enzyme, is a rare but probably underdiagnosed cause of congenital hypotonia. We report an infant girl with severe generalized hypotonia, born at 33 weeks gestation who required ventilatory assistance since birth. She had bilateral ptosis, mild knee and foot contractures and echocardiographic evidence of cardiomyopathy. A muscle biopsy at 1 month of age showed typical polyglucosan storage. The autopsy at 3.5 months of age showed frontal cortex polymicrogyria and polyglucosan bodies in neurons of basal ganglia, thalamus, …
Ewing’s Sarcoma Family of Tumors
2020
Ewing’s sarcoma family of tumors (ESFT) is a family of small round cell sarcomas with specific molecular alterations showing a spectrum of neuroectodermal differentiation. There is a slightly greater incidence in males than females. The first two decades of life account for 80 % of patients (age at diagnosis ranges from 13 to 19 years), being more uncommon in adults and elderly patients and more frequent in white (Caucasian) people.
Greenberg dysplasia: first reported case with additional non-skeletal malformations and without consanguinity
2001
In 1988 Greenberg et al. reported an association of fetal hydrops with irregular calcification and moth-eaten skeletal dysplasia. Here, we report on the first case of this disorder accompanied by additional malformations (omphalocele, intestinal malrotation, disturbed fingernails and toes, hypolobated lungs) in a German couple without consanguinity (karyotype 46,XY). Sonograpically, the fetus was characterised by tetraphokomelia, severe generalised hydrops, pulmonal hypoplasia and hepato-splenomegaly. Greenberg dysplasia should be considered in differential diagnosis in cases with severe fetal hydrops and phokomelia on antenatal sonography.
Peripheral giant cell granuloma associated with a dental implant : a case report
2021
Peripheral giant cell granuloma (PGCG) is a reactive exophytic lesion classified as a benign tumor of the oral mucosa. Although its etiology is not clear, it may be a consequence of local chronic irritation or persistent trauma. The objective of this case report was to document the main clinical and histopathological characteristics of a patient with a PGCG associated with a dental implant. A 36 years-old man presented a partly-ulcerated violet-colored sessile-based tumor in the buccal aspect of an implant placed in the fourth quadrant. Radiographically, the implant had one third of marginal bone loss. Differential diagnosis included PGCG and pyogenic granuloma. The implant and the lesion w…
Necrotizing sialometaplasia of the tonsillar pillar. An unusual case
2021
Necrotizing Sialometaplasia (NS) is a rare, benign, self-limited, inflammatory and necrotizing reaction of the salivary glandular tissue. Due to the clinical picture (a painful ulcer with well-defined edges), and histopathological characteristics (nuclear and cellular pleomorphism of ductal cells) NS can mimic a malignant lesion. The correct diagnosis is important because NS shows a spontaneous resolution and therefore no further treatment is needed. We report a very unusual case of spontaneous and recurrent NS located on the anterior tonsillar pillar in a 43-year old man, which clinically mimics a malignant lesion. The clinician should be aware to include NS in the differential diagnosis o…
Extraskeletal myxoid chondrosarcoma of the masticator space in a pediatric patient
2017
Extraskeletal myxoid chondrosarcoma (EMC) is a malignant soft-tissue neoplasm rarely described in the head and neck region of children and adolescents. We describe a case of EMC affecting the masticator space and a literature review. A 13-year-old boy who presented a large painless, diffuse mass causing progressive midfacial asymmetry of 6 months duration. Histopathological evaluation revealed a multinodular lesion, containing scattered round vacuolated tumor cells dispersed in an abundant myxoid stroma, separated by fibrous septae. Immunohistochemical analysis revealed positivity for vimentin, neuron-specific enolase, and chromogranin. The Ki-67 labelling index was 42%. The patient was tre…
Ameloblastic fibroma: a rare case appearing as a mixed radiographic image
2014
Ameloblastic fibroma (AF) is a benign tumor of mixed odontogenic origin, which affects predominantly young individuals. AF appearing as a mixed radiographic image is very rare. This report describes a case of AF in a 12-year-old male identified during a routine radiographic exam for orthodontic treatment planning. The panoramic radiography revealed a well-defined multilocular mixed image located in the mandible between the roots of the left mandibular second premolar and first molar. The lesion was excised under local anesthesia. Histopathological analysis revealed islands of epithelial cells and columnar peripheral cells showing a nucleus in inverted polarization, interspersed with spindle…
Peripheral Calcifying Odontogenic Cyst : a rare case report
2018
The Calcifying Odontogenic Cyst (COC) is a simple cyst lined by ameloblastoma-like epithelium with ghost cells. The peripheral COC is a rare lesion and few reports have been published considering its clinical and histopathological features. This article aimed to report on a case of a peripheral COC, discussing its clinical, imaginological and histopathological features. A 9-year-old male patient presented a 10x5 mm painless nodule in the palatal mucosa of the left central incisor. Panoramic, occlusal and periapical radiographs did not show alterations. A computed tomography exam showed a slight soft tissue swelling located in the palatal mucosa of the left maxillary central incisor. An exci…
Ossifying renal tumor of infancy
2007
A renal ossifying tumor of infancy is a rare event with few cases having been published, and the etiology has not yet been established. We report on two new cases of this unusual neoplasm. A 2-year-old boy presented with intermittent painless gross hematuria. After several diagnostic procedures, an open pyelolithotomy was performed and the histological diagnosis of renal tumor of infancy was finally made. The history of the second case is very similar. An 8-week-old infant presented with gross hematuria. As in the first case, an open pyelolithotomy was performed and a tumor entirely covered with blood clots was found in the renal pelvis and completely removed. A histological diagnosis of re…
Determination of neuronal antibodies in suspected and definite Creutzfeldt-Jakob disease
2014
IMPORTANCE: Creutzfeldt-Jakob disease (CJD) and autoimmune encephalitis with antibodies against neuronal surface antigens (NSA-abs) may present with similar clinical features. Establishing the correct diagnosis has practical implications in the management of care for these patients. OBJECTIVE: To determine the frequency of NSA-abs in the cerebrospinal fluid of patients with suspected CJD and in patients with pathologically confirmed (ie, definite) CJD. DESIGN, SETTING, AND PARTICIPANTS: A mixed prospective (suspected) and retrospective (definite) CJD cohort study was conducted in a reference center for detection of NSA-abs. The population included 346 patients with suspected CJD and 49 pati…