scholarly journals Osteopoikilosis - Case report

2014 ◽  
Vol 2 (1) ◽  
pp. 132-134
Author(s):  
Vilson Ruci ◽  
Dorina Serani

Osteopoikilosis is a rare bone anomaly usually benign which may be confused with other severe primary diseases or dangerous metastatic bone lesions. We present one new case describing typical radiological findings with no clinical signs or other associations. No malignant transformation or other complications happened in the last ten years. Osteopoikilosis is found in most cases incidentally, and in most cases is not associated with other serious medical complications. Screening of family members may be considered.

2021 ◽  
Vol 19 (1) ◽  
Author(s):  
M. Müller-Knapp ◽  
C. F. Classen ◽  
R. Knöfler ◽  
C. Spang ◽  
C. Hauenstein ◽  
...  

Abstract Background Antithrombin deficiency (ATD) is an autosomal dominant thrombophilia presenting with varying phenotypes. In pediatric patients with ATD, thrombosis typically develops during the neonatal period or adolescence. However, to date there are no consistent recommendations on the therapeutic management of children with ATD. Inferior vena cava atresia (IVCA) belongs to a range of congenital or acquired vena cava malformations and is described as an independent risk factor for thrombosis. The present case report explores two cases of combined ATD and IVCA in an adolescent and his mother. Case presentation A 14-year-old male presented with extensive deep venous thromboses (DVTs) of both lower extremities as well as an IVCA. The patient had previously been diagnosed with an asymptomatic ATD without therapeutic consequences at that time. His mother was suffering from an ATD and had herself just been diagnosed with IVCA, too. The DVTs in the adolescent were treated by systemic anticoagulation and catheter-directed local thrombolysis causing favourable results. Yet, despite adequate oral anticoagulation the DVTs in both lower extremities reoccurred within 1 week after the patient was discharged from hospital. This time, thrombolysis could not be fully achieved. Surprisingly, probing and stenting of the IVCA was achieved, indicating an acquired IVCA which could have occurred after undetected thrombosis in early childhood. Genetic analyses showed the same mutation causing ATD in both son and mother: heterozygote missense mutation c.248 T > C, p.(Leu83Pro), within the heparin binding domain of antithrombin. This mutation was never reported in mutation databases before. Conclusions To our knowledge this is the first case report discussing combined ATD and IVCA in two family members. Since ATDs present with clinical heterogeneity, taking a thorough family history is crucial for the anticipation of possible complications in affected children and decisions on targeted diagnostics and therapeutic interventions. Affected families must be educated on risk factors and clinical signs of thrombosis and need an immediate diagnostic workup in case of clinical symptoms. IVCA in patients with ATD could occur due to thrombotic occlusion at a very early age. Therefore, in case of family members with IVCA and ATD ultrasound screening in newborns should be considered.


Author(s):  
Priyadharshini N. ◽  
Harini Irri ◽  
Sathyanarayanan R.

<p class="abstract">Trichoepithelioma is a rare benign adnexal tumor that differentiates towards the folliculo-sebaceous-apocrine unit (trichoblast). It may present as solitary non-familial lesion or multiple lesions as a part of autosomal dominant inherited syndrome known as multiple familial Trichoepithelioma. Multiple familial trichoepithelioma is a relatively rare, disfiguring, benign adnexal neoplasm diagnosed by centrofacial distribution of papules and nodules, positive family history, related histopathological findings and can rarely undergo malignant transformation. Treatment is mainly for cosmetic concern. Here we report a case who presented with multiple skin coloured facial papules and nodules, with a history of similar lesions in other family members. Dermoscopy and histopathology confirmed the diagnosis of trichoepitheliomas.</p>


1998 ◽  
Vol 11 (01) ◽  
pp. 08-18 ◽  
Author(s):  
C. W. McIlwraith ◽  
J. A. Auer ◽  
Brigitte von Rechenberg

SummaryCases of cystic bone lesions in horses and humans were reviewed in the literature. These lesions are radiolucent areas of bone, recognized as subchondral cystic lesions in the horse (SCL), intra-osseous ganglia (IOG), subchondral bone cysts secondary to osteoarthrosis (OAC), and unicameral bone cysts (UCB) in humans. Their morphology is quite similar, consisting of lesions with a distinct cyst wall, and a cavity filled with fibrous tissue and yellowish mucoid fluid. The lesions are surrounded by sclerotic bone and can be easily diagnosed radiographically. SCL, IOG and OAC occur in the subchondral bone close to the adjacent joint, whereas UCB occur in the metaphysis of long bones. Their aetiology and pathogenesis is still unknown, although primary damage to the subchondral bone, cartilage or local blood supply and growth disturbances are discussed. In this review 703 lesions of SCL in horses, 289 lesions of IOG and 1460 lesions of UCB in humans were compared in their anatomical location and clinical signs. SCL and OAC resembled each other with respect to anatomical location. A correlation of affected bones could not be found for all four groups. Clinical presentation concerning age was most similar for SCL and UCB with both lesions mainly occurring in young individuals. Gender predominance of males was present in SCL, IOG and UCB. Clinical diagnosis was either incidental, or connected with intermittent pain in all lesions except for OAC. Additionally, the lesions were also found in conjunction with degenerative joint disease (SCL, OAC) or pathological fractures (UCB). Cystic bone lesions were either treated conservatively, surgically with curettage alone, curettage in combination with grafting procedures, or intra-lesional application of corticosteroids. SCL and UCB were similar in their biological behaviour concerning their slow response to the therapy and relatively high recurrence rate. None of the cystic bone lesions were comparable, and a common aetiology and pathogenesis could not be found.In a literature review cases of cystic bone lesions in horses and humans were compared with the goal to find a common aetiology and pathogenesis. Cystic bone lesions occur in horses as subchondral cystic lesions (SCL), and in humans as either intra-osseous ganglia (IOG), subchondral cystic lesions secondary to osteoarthrosis (OAC) or unicameral bone cysts (UCB). IOG and OAC compare with SCL mainly in the anatomical location. IOG and SCL resemble each other in size, clinical signs and histology, whereas UCB and SCL show a similar biological behaviour regarding their therapeutic response and recurrence rate. None of the cystic bone lesions in humans were comparable to the SCL in horses in all aspects. A common aetiology and pathogenesis could not be established.


Author(s):  
Devasee Borakhatariya ◽  
A. B. Gadara

Oesophageal disorders are relatively uncommon in large animals. Oesophageal obstruction is the most frequently encountered clinical presentation in bovine and it may be intraluminal or extra luminal (Haven, 1990). Intraluminal obstruction or “choke” is the most common abnormality that usually occurs when foreign objects, large feedstuff, medicated boluses, trichobezoars, or oesophageal granuloma lodge in the lumen of the oesophagus. Oesophageal obstructions in bovine commonly occur at the pharynx, the cranial aspect of the cervical oesophagus, the thoracic inlet, or the base of the heart (Choudhary et al., 2010). Diagnosis of such problem depends on the history of eating particular foodstuff and clinical signs as bloat, tenesmus, retching, and salivation


Author(s):  
Guilherme Finger ◽  
Maria Eduarda Conte Gripa ◽  
Tiago Paczko Bozko Cecchini ◽  
Tobias Ludwig do Nascimento

AbstractNocardia brain abscess is a rare clinical entity, accounting for 2% of all brain abscesses, associated with high morbidity and a mortality rate 3 times higher than brain abscesses caused by other bacteria. Proper investigation and treatment, characterized by a long-term antibiotic therapy, play an important role on the outcome of the patient. The authors describe a case of a patient without neurological comorbidities who developed clinical signs of right occipital lobe impairment and seizures, whose investigation demonstrated brain abscess caused by Nocardia spp. The patient was treated surgically followed by antibiotic therapy with a great outcome after 1 year of follow-up.


2021 ◽  
Vol 17 (1) ◽  
Author(s):  
Sebastian Ganz ◽  
Axel Wehrend

Abstract Background Clinical signs of heat in bitches that have been previously spayed are often associated with the presence of ovarian remnant syndrome. The inclusion of exogenous estrogens as a differential diagnosis in this regard is often ignored and may lead to misinterpretation of the case. Case presentation Herein, we report a case of exogenous estrogen exposure over several months to a 6.5-year-old spayed crossbred bitch, weighing 8.4 kg. The bitch presented in the clinic because of suspected ovarian remnant syndrome. Castration was performed within the first 6 months after birth. Important endocrine parameters measured at the first appointment were Anti-Müllerian hormone (< 0.01 ng/mL), progesterone (0.36 ng/mL), estradiol-17ß (20.7 pg/mL), and luteinizing hormone (< 0.1 ng/mL). After an extensive conversation with the owner, it was revealed that she was using an estrogen spray because of severe menopausal symptoms. After the owner stopped using this spray, the symptoms of the bitch disappeared. Conclusion Therefore, the uptake of estrogens should be a differential diagnosis for symptoms of the ovarian remnant syndrome. A detailed anamnesis is crucial to identify the source of estrogen in the environment of the affected bitch.


2021 ◽  
pp. 147-151
Author(s):  
Manon Baverez ◽  
Emilie Thibaudeau ◽  
Vincent Libois ◽  
Olivier Kerdraon ◽  
Hélène Senellart ◽  
...  

We report the case of a 57-year-old woman who presented with local invasion of the anal canal by mucinous adenocarcinoma, the malignant transformation of a long-term preexisting retrorectal tailgut cyst. This progression is infrequent and justifies preemptive surgical treatment of retrorectal cysts.


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