The SLC29A3 variant, neutrophilic dermatosis, and hyperferritinemia imitate systemic juvenile idiopathic arthritis in a Saudi child: a case report.

Genetic defects of SLC29A3 result in a wide range of syndromic histiocytosis that encompasses H syndrome. Patients with SLC29A3 variants typically have hyperpigmentation, hypertrichosis, hepatosplenomegaly, sensorineural hearing loss, diabetes mellitus, and hypogonadism. Herein, we identify a novel phenotype in a girl presenting with clinical and laboratory findings similar to systemic juvenile arthritis and hyperferritinemia. Exome sequencing identified a homozygous variant in SLC29A3 (NM_018344.5: c.707C>T [p.T236M]). Our patient did not show the cardinal features of the broad spectrum of SLC29A3-related disorders. She demonstrated remarkable improvement in her clinical and laboratory manifestations after starting interleukin-1 blockade (Anakinra). Recent research suggests that SLC29A3-related disorders are accompanied with autoinflammation and autoimmunity due to an overactive inflammasome pathway, which is most likely induced by mitochondrial and lysosomal dysfunction. Hence, our findings may expand the phenotypic features of the SLC29A3 variant. Patients with the SLC29A3 variant and systemic inflammation may benefit from interleukin-1 blockade as a therapeutic option.

Midline mandibulotomy for large carotid body tumors: a valuable approach.

In the present case, a 41-year-old male patient had reported a large swelling on the right side of his neck that had been radiographically diagnosed as a carotid body tumor. The tumor extended toward the right thyroid lobe, deep to the parapharyngeal space and cranially to the base of the skull. The clinical and medical imaging findings confirmed the diagnosis. Because of the large size of the tumor (50 mm × 48 mm × 85 mm), extent of involvement, and hypervascularity, surgical excision by midline mandibulotomy was chosen as the treatment approach. Midline mandibulotomy is a very good approach for large tumors with extensive involvement of the surrounding tissues, especially tumors with great medial and cephalic extension.

Multimodality imaging workup of classical Hodgkin lymphoma in an 8-month-old child.

The incidence of Hodgkin lymphoma (HL) varies by age, most commonly affecting 15-19-year-olds. Cases in children less than 3 years old are exceedingly rare. We report a case of classical HL in an 8-month-old male; the youngest case reported thus far in the literature to our knowledge. Furthermore, while lymphadenopathy is a salient feature of HL, it was absent in our patient, who presented with immunodeficiency and delays in achieving neurologic milestones. A thorough radiologic workup demonstrated bilateral paravertebral masses, collapse of the T3 vertebrae, and severe spinal cord compression. Involvement of the lung, liver, and spleen was also noted. Histopathological evaluation of the paravertebral mass revealed a diagnosis of classical HL. Various non-neoplastic and malignant disorders, such as tuberculosis, Langerhans cell histiocytosis, leukemia, and neuroblastoma, amongst others, could be included in the differential diagnosis of our patient. Using an Illustrative case report, we review the multimodality imaging workup of Hodgkin lymphoma.

Primary omental pregnancy in a subseptate uterus: A novel case report and literature review.

Introduction and importance: Ectopic pregnancy is defined as a pregnancy in which the fertilized ovum implants itself in a location other than the uterine endometrium. Abdominal ectopic pregnancies involve the implantation and development of the embryo within the peritoneal cavity. Primary omental pregnancies are the rarest form of abdominal pregnancy and possibly the rarest extrauterine gestation. Case presentation: We report the first case of a primary omental pregnancy in a subseptate uterus in literature. Our patient, a 33-year-old female, G8P4+3, presented with nausea, severe abdominal pain, and vaginal spotting at 6 weeks' gestational age. She had mild tenderness below the umbilicus, with positive cervical and right adnexal tenderness. 2D-ultrasound revealed a subseptate uterus, normal ovaries and fallopian tubes, absence of a gestational sac, and a 4x3x2.5 cm mass in the right adnexa. A mini-laparotomy was performed due to suspicion of ruptured tubal pregnancy, revealing a primary omental pregnancy which was managed via partial omentectomy. Clinical discussion: Ectopic pregnancies have ambiguous presentations, however correct diagnosis and management is crucial to prevent complications. A high index of suspicion must be exercised to make an accurate diagnosis of primary omental pregnancy. A subseptate uterus is a subtype of the most common uterine anomaly and should be investigated via 3D-ultrasound and magnetic resonance imaging as it causes increased risk of primary omental implantation. Conclusion: Correct identification of subseptate or septate uteri is vital. Greater research is needed to elucidate the association between septate or subseptate uteri and ectopic pregnancy, particularly primary omental pregnancy.

A case of spontaneous resolution of a scrotal ventriculoperitoneal shunt migration.

Ventriculoperitoneal (VP) shunt catheter migration remains a rare but documented complication seen in one in 1000 patients who receive a VP shunt. Migration of the VP shunt into the scrotum is even more uncommon and requires surgical treatment. We report a unique case of a 6-month-old preterm male who developed right scrotal migration of his VP shunt. However, the tip of the VP shunt spontaneously reduced to its normal position, and repeated imaging months later showed no recurrence.