Road to A Rare Diagnosis: A Case Report Exploring Phenotype, Clinical Management and Outcome of a Rare and Novel Unbalanced Translocation causing complete Trisomy 17p

Background: Trisomy 17 is a rare chromosomal disorder with limited existing literature that mostly refer to mosaic Trisomy 17 cases. Our report summarizes the clinical course of a neonate with a Trisomy 17 karyotype der (14;17) (q10; p10), + 17 pat. Key words: Trisomy 17, Unbalanced translocation, Paternal origin

Intraneural Nodular Fasciitis of the Dorsal Scapular Nerve: Case Report and Review of the Literature

Background Nodular fasciitis is a benign neoplasm occurring predominantly in the subcutaneous tissue. There have been nine intraneural occurrences described in the literature. Case report A 37-year-old woman presented with numbness and tenderness in her left shoulder and scapula and a slightly dropped left shoulder, without history of trauma. A magnetic resonance imaging (MRI) of the cervical spine showed a well-circumscribed oval mass deep to the levator scapula muscle. Due to persisting symptoms and an unknown nature of the process, surgical excision was performed, and histopathologic analysis confirmed diagnosis of a benign fibroblastic/myofibroblastic neoplasm, nodular fasciitis. The postoperative course was uneventful and the patient was without symptoms at 4 months of follow-up. Methods We reviewed the available literature (PubMed, Google Scholar), with nine published cases of intraneural nodular fasciitis. The reported clinical, radiologic, and histopathologic parameters were evaluated and compared. Discussion Most of the cases reported in the literature were symptomatic, with tenderness and palpability being the main symptoms. Six of the reported cases occurred in the forearm, whereas three were in the leg. To the best of our knowledge, ours is the first reported case of nodular fasciitis occurring in the trunk. Ours is the only case to display desmin positivity, which supports the reactive hypothesis of nodular fasciitis. Conclusion Intraneural nodular fasciitis is an extremely rare diagnosis. Due to its benign natural course, a multidisciplinary approach with this extremely rare diagnosis in mind is needed to avoid overtreatment.

Endovascular approach in the management of idiopathic myointimal hyperplasia of the inferior mesenteric vein

Background Idiopathic myointimal hyperplasia of the mesenteric vein (IMHMV) is a rare, often undiagnosed pathology affecting the colon. Patients typically present with severe abdominal pain and inflammation caused by smooth muscle proliferation of the veins, leading to arterialization, stenosis, and potential occlusion. The etiology remains unclear, but it has been hypothesized that an arteriovenous connection may be associated with the pathology. This is the first reported case indicating such an association. This case additionally highlights the potential utility of endovascular treatment, as endovascular embolization is generally a less invasive alternative to surgical resection in the treatment of such vascular disorders. Case Presentation This report describes a 24-year-old female patient with findings of colitis and an abnormal arteriovenous connection of the inferior mesenteric arterial and venous systems. Partial embolization of this arteriovenous connection temporarily improved the patient’s condition, but her symptoms ultimately returned due to the presence of multiple smaller feeder vessels not amenable to embolization, necessitating colonic resection for definitive treatment. Although prior reports have hypothesized that arterial pressurization of the veins may precipitate myointimal hyperplasia, to the authors’ knowledge, this is the first report of IMHMV with an associated abnormal arteriovenous connection. Conclusions This case illustrates the possibility of an association between an arteriovenous connection and IMHMV. This rare diagnosis should be considered in patients with a similar presentation of abdominal pain after common etiologies like IBD have been excluded.

Hepatitis in Idiopathic Hypereosinophilic Syndrome: Report of an Unusual Case

World Health Organization defines a rare diagnosis Idiopathic hypereosinophilic syndrome (HES) as a persistent eosinophilia for 6 months and resulting in end-organ dysfunction. Most of the patients present with nonspecific symptoms, while others will present with symptoms of the affected organs, commonly those involving the heart, skin, or nervous system. Gastrointestinal or liver involvement is estimated to affect up to one-third of patients with HES, although patients with clinically significant disease are limited to case reports. This is the first report of a patient presenting with idiopathic HES related hepatitis and achalasia. Hypereosinophilic syndrome has been reported to be associated with hepatic dysfunction; liver histology is mainly characterized by a diffuse eosinophilic inflammatory infiltrate. A 49-yr-old woman, diagnosed as a case of idiopathic hypereosinophilic syndrome with bone marrow and pulmonary eosinophilic infiltrates associated with peripheral eosinophilia,high IgE level developed features of chronic gatrornteritis, hepatitis, with a significant eosinophil component. She responded well to systemic glucocorticoid and Imatinib therapy with normalization of liver function tests within a few weeks.

Benign Fibrous Histiocytoma of the Sacrum: A Rare Scenario

Benign fibrous histiocytoma (BFH) of bone is quite rare, and here we report the second case of such tumor originating from sacrum, with the first being reported in an 18-year-old female. The overlapping clinical, radiological, and histopathological findings make it a difficult diagnosis along with the fact that it is a rare diagnosis. In this case report, we present the diagnostic difficulties and optimal treatment for such cases. A 46-year-old male w presented to OPD with complaint of numbness in left foot since 1 month, and intermittent urinary incontinence for 2 weeks. On examination, the straight leg raising test was positive of left side, extensor hallucis longus (EHL) was weak in both lower limbs, and bilateral ankle jerks were diminished. MRI showed well-defined lobulated solid mass lesion, which is T1 hypointense and T2 hyperintense and homogeneously involving the S1 vertebral body, with involvement of the right sacral ala, and right sacral foramen seen at S1 and S2 levels extending into the spinal canal till L4 level. Excision through a posterior midline incision was performed taking care to preserve the traversing nerves. Postoperatively, remarkable improvement in pain with no major residual neurological deficit was observed. Patient was followed-up till 9 months; patient’s incontinence improved over a period of 3 months and has stayed the same until the last follow-up.

Appendiceal Mucocele - A Review of Literature with a Case Report

Background: Appendiceal mucoceles represent neoplastic and non-neoplastic, dilatated, mucus filled appendix vermiformix. Appendectomy is obligatory due to a possible malignancy. It is crucially important to avoid rupturing of the mucocele because it can result in pseudomyxoma peritonei, with high morbidity and mortality. Case Report: We presented a 52-year-old man with pain and palpable mass in the lower right quadrant of the abdomen. The mucocele was removed without a rupture, and the patient was discharged from the surgical department one day after the surgery without a complication. Discussion: The resection must be done very carefully, because the rupture of a mucocele can cause pseudomyxoma peritonei, a very dangerous and often lethal condition. Due to the concern of rupture, we performed the classical resection through laparotomy. Conclusion: It is very important, especially for young, inexperienced surgeons to be aware of this rare diagnosis and perform a surgical intervention according to the guidelines of good clinical practice.