Compound heterozygous delta beta thalassemia with IVS 1-5 (G>C) mutation presenting as thalassemia major phenotype

Delta beta thalassemia is an unusual variant of thalassemia with elevated level of fetal hemoglobin (HbF). Unlike beta thalassemia, delta beta thalassemia heterozygotes have milder phenotype and homozygotes present as thalassemia intermedia phenotype. We report a 11-month-old male child who presented with severe anemia, and hepatosplenomegaly, thalassemia major phenotype. On evaluation was diagnosed as compound heterozygous for δβ0/β thalassemia with IVS 1-5 (G>C) mutation. This case highlights the importance of genotyping of patients with δβ thalassemia and co-inheritance of δβ thalassemia deletion with point mutation for β-thalassemia results in severe clinical phenotype as thalassemia major.

A Rare Neonatal Intramedullary Immature Teratoma Undiagnosed in utero: A Case Report

<b><i>Background and Importance:</i></b> Immature teratoma is a known pediatric tumor. However, spinal variants are rare and can present both a diagnostic and therapeutic challenge, particularly regarding aggression as it pertains to extent of resection, likelihood of recurrence and concordant prognosis, and the need and efficacy of adjuvant therapies. <b><i>Clinical Presentation:</i></b> The patient is a 27-day-old female who presented with 10 days of poor feeding, irritability, and progressive hypotonia. Although upon immediate presentation emergency providers’ differential diagnoses included meningitis, inborn error of metabolism, and genetic neurodegenerative disease, a subsequent magnetic resonance (MR) imaging of the total spine revealed a large intradural intramedullary mass extending from the medulla to the thoracic cord at T12. The patient underwent multilevel cervical and thoracic laminectomies/laminoplasty for maximal safe resection. Histopathology revealed mostly mature tissue elements originating from all 3 germ layers, interspersed with foci of immature neuroepithelium, consistent with grade 1 immature teratoma. Following surgical intervention, the patient regained strength and spontaneous movement and underwent physical therapy. Follow-up MR imaging of the total spine was obtained every 3 months, and at 9 months, recurrence was demonstrated, which was successfully treated with chemotherapy. Further surveillance MR imaging of the total spine has demonstrated cystic myelomalacia changes without definite tumor recurrence, at 5-year follow-up. Clinically, the patient has developed scoliosis without weakness, pain, or urinary symptoms. <b><i>Conclusion:</i></b> This case demonstrates an exceptionally rare and unusual variant neoplasm in a neonate and highlights the difficulty of diagnosis and the important role of MR imaging. It also illustrates the importance of gross total resection, the risk of recurrence, and the need for close radiographic follow-up of these lesions. It also provides a useful example of the efficacy of adjuvant chemotherapy in treating recurrence.

Prenatal Diagnosis of Combined Maternal 4q Interstitial Deletion and Paternal 15q Microduplication

The 4q deletion syndrome is a well-known rare genetic condition caused by partial, terminal, or interstitial deletion in the long arm (q) of chromosome 4. The phenotype of this syndrome shows a broad spectrum of clinical manifestations due to the great variability in the size and location of the deletion. In the literature, the mostly terminal deletions of chromosome 4q and the relative phenotypes are described, while the interstitial deletions of the long arm of chromosome 4 are rarely cited. Here, we report on a female fetus presenting no abnormal ultrasound evidence but with multiple chromosome aberrations. Comparative genomic hybridization (aCGH) revealed an interstitial 10.09 Mb deletion at the chromosome at the region of 4q28, arr[hg19] 4q28.1q28.3 (124068262_134158728)x1 combined with a 386.81 Kb microduplication at chromosome 15q11.1, arr[hg19] 15.11 (20249932_20636742)x3. At birth, and after 11 months, the baby was confirmed healthy and normal. The identification of this case allows for a deeper understanding of 4q syndrome and provides an explanation for the wide genetic/phenotypic spectrum of this pathology. This report can provide a reference for prenatal diagnosis and genetic counseling in patients who have similar cytogenetic abnormalities, and underlines the importance of reporting unusual variant chromosomes for diagnostic genetic purposes.

An Unusual Terrible Triad Variant Associated with an Essex-Lopresti Injury

Essex-Lopresti injuries and terrible triad injuries of the elbow are rare injuries that typically result from high-energy trauma such as falling from a height or a motor vehicle collision. However, the combination of an Essex-Lopresti injury and terrible triad injury is unique and poses a significant challenge for treatment as these injuries are independently associated with poor functional outcomes if they are not acutely diagnosed. We describe a case of a 19-year-old who presented with an unusual variant of a terrible triad injury associated with an Essex-Lopresti injury. The patient had a distal radioulnar joint (DRUJ) and elbow dislocation, a radial head and coronoid process fracture, and a distal radius fracture. Almost a reverse Essex-Lopresti, this injury was successfully managed with open reduction and repair of the distal radius, radial head, and damaged ligaments in the elbow, along with an internal joint stabilizer (IJS).

Glomangiomyoma of Uncertain Malignant Potential in the Urinary Bladder: A Case Report

Glomus tumour typically occurs in subcutaneous tissue but rarely in the visceral organs. Most glomus tumours are benign but few atypical glomus tumours have been reported. Herein, we report a case of a 44-year-old male who presented with hematuria. Transurethral resection of bladder tumour was done. Microscopic examination showed nests and sheets of tumor around the blood vessels. Spindle cells resembling smooth muscle were also observed. An increase in mitosis was observed. These tumour cells show diffuse and strong cytoplasmic positivity for smooth muscle actin and negative for Pancytokeratin, Desmin, Synaptophysin, Chromogranin, S100, and Cluster of Differentiation 34. Ki-67 index was approximately 5%. To our knowledge, this is the first report of Glomangiomyoma of uncertain malignant potential in the urinary bladder which is considered as an unusual variant of atypical glomus tumor. This case emphasizes the importance of broad differential diagnosis which has to be considered in the urinary bladder mass.

An interesting case of duplicated common bile duct and its sequelae

The objective of this case report is to highlight the unusual variant of duplicated common bile duct which has important consequences for future operative planning and subsequent medical surveillance for the patient.

Unusual Variant of Unicystic Ameloblastoma with CEOT-Like Areas: A Rare Case Report with Review of Literature

Ameloblastoma is an epithelial odontogenic neoplasm with clinical and histological diversity. They are locally invasive tumors with 3 clinical variants such as solid, unicystic, and peripheral ameloblastomas, and the unicystic variant constitutes only 13%. Histologically, it shows diverse microscopic patterns that may occur isolated or in combination with other patterns. The granular cell variant accounts for 3.5% of all ameloblastoma cases. The eosinophilic granules seen in the cytoplasm of the tumor are thought to be lysosomes and presumably contribute to the pathogenesis of the tumor. Although such a phenomenon is rare in unicystic ameloblastoma, granular cell differentiation in solid multicystic ameloblastoma is a well-established phenomenon. In this paper, we present a unique case of unicystic ameloblastoma with granular cell differentiation with a brief review.