Abstract
Background
Terminal deletion of chromosome 10p is a rare chromosomal abnormality. We report a neonatal case with a large deletion of 10p15.3p13 diagnosed early because of severe clinical manifestations.
Case presentation
Our patient presented with specific facial features, hypoparathyroidism, sen sorineural deafness, renal abnormalities, and developmental retardation, and carried a 12.6 Mb deletion in the 10p15.3 p13 region. The terminal 10p deletion involved in our patient is the second largest reported terminal deletion reported to date, and includes the ZMYND11 and GATA3 genes and a partial critical region of the DiGeorge syndrome 2 gene (DGS2).
Conclusion
On the basis of a literature review, this terminal 10p deletion in the present case is responsible for a specific contiguous gene syndrome. This rare case may help the understanding of the genotype–phenotype spectrum of terminal deletion of chromosome 10p.
Thrombosed urethral prolapse is a rare clinical condition. In this context, we describe our experience and compare our findings with the literature, following presentation of five consecutive cases over 2 years. This will hopefully improve awareness and appropriateness of specialty referrals as a correct diagnosis is rarely established prior to the patient being seen by a urologist. We also wish to highlight a case presentation of thrombosed urethral prolapse outside the bimodal age distribution which has been recorded in the literature. Level of Evidence: Level 4
Giant condyloma acuminatum or Buschke-Lowenstein tumour is a very rare disease which usually is located in the genital, anorectal, and perianal regions. It is regarded as a type of verrucous carcinoma occurring on anogenital mucosal surfaces where it is locally invasive but displays a benign cytology. We describe a case of a 24-year-old woman with persisting condyloma acuminata progressing to a large intra-abdominal Buschke-Lowenstein tumour. To our knowledge such an advanced stage has only been reported once before. The severity and extent of the tumour both determine the treatment and patient outcome. Treatment was impeded by cachexia, an immunosuppressive state after kidney transplantation and difficulties in establishing a reliable diagnose. Interferon treatment was started which initially led to tumour reduction but was complicated by an interferon-induced pancreatitis, pneumonia, and fasciitis necroticans resulting in death. We present a literature overview on the treatment options for a Buschke-Lowenstein tumour, with emphasis on interferon therapy, with all the advantages and disadvantages.
<b><i>Introduction:</i></b> Extraneural metastases of glioblastoma are very rare clinical entities, especially in pediatric patients. Because of their rarity, they can be confused with other pathological processes. <b><i>Case Presentation:</i></b> We report a case of 16-year-old boy with extensive extraneural metastases of glioblastoma. Lung, liver, cervical lymph nodes, skin, and bone metastases were detected in the patient. <b><i>Conclusion:</i></b> We describe the presentation, evaluation, and diagnosis of this rare condition with regard to pertinent literature.
Introduction. Radiation recall dermatitis (RRD) is a phenomenon that occurs in previously irradiated areas shortly after administration of a chemotherapeutic agent. As the use of sorafenib expands, the incidence of radiation recall dermatitis induced by sorafenib will likely increase. Here, we report on a patient who developed RRD and describe his clinical characteristics along with a review of the literature. Case Presentation. Our patient was treated with palliative radiation therapy (RT) to a painful metastatic hepatocellular carcinoma lesion in the right forearm. He completed his radiation course with grade 1 dermatitis, which had resolved by the time he was started on sorafenib 400 mg twice daily 7 days afterwards. On the 21st day after RT, he presented with desquamation and erythema in the previously irradiated area of the right forearm, consistent with RRD. The sorafenib was discontinued and his symptoms subsequently resolved with conservative topical management. Conclusions. Although the pathophysiologic mechanism of sorafenib-related radiation recall dermatitis remains to be investigated, practitioners should be aware of its presence and management in order to improve clinical outcomes.
Although the complications and sequelae of varicella are rare, they can cause significant mortality and morbidity in both the normal and compromised patient. Eight cases of "pure" acute transverse myelitis (ATM) following varicella have previously been reported in the literature. We report the ninth case of postvaricella ATM in a 9-year-old girl. Her course was characterized by paraplegia, sensory Loss, hvperesthesia, and incontinence of urine and feces. All patients, except ours, recovered fully from ATM.
ABSTRACT
Localized fibrous tumors of the lung arise from the visceral pleura and are pedunculated. They also project into the pleural cavity. The tumor with an entirely pulmonary location is extremely rare. We present here a rare case of intrapulmonary localized fibrous tumor with review of the literature.
How to cite this article
Parinita S, Rao KNM, Vivek. Intrapulmonary Solitary Fibrous Tumor of the Lung: A Rare Case Presentation. J Med Sci 2016;2(2):42-44.
Clinical report of a neonate carrying a large deletion in the 10p15.3p13 region and review of the literature
