Clinical characteristics and long-term management for patients with vitamin D-dependent rickets type II: a retrospective study at a single center in Saudi Arabia.

Introduction: Hereditary Vitamin D-dependent rickets type II (HVDDR-type II) is a rare autosomal recessive disorder caused by molecular variation in the gene encoding the vitamin D receptor (VDR). This study aims to evaluate phenotype and genotype characteristics and long-term follow-up of the largest group of patients with (HVDDR-type II) in Saudi Arabia. Methodology: We conducted a retrospective chart review to collect the clinical, biochemical, and genetic data for all HVDDR-type II patients currently receiving treatment at King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia. Results: A total of 42 patients, 57.1% female, and 42.9% male were included in the study. Seven patients were treated with high doses of oral calcium, while 35 patients were treated with IV calcium infusion. The median age at presentation was 15.5 months. Alopecia was found in 97.6%, 21.4% presented with bowing legs, 14.3% with delayed walking, 9.5% with seizure, and 2.4% presented with respiratory failure, while a family history of the disease was positive in 71.4% of total patients. Molecular genetic testing of the VDR gene in our cohort identified six different gene variants c.885 C>A (p.Tyr295Ter), c.88 C>T (p.Arg30Ter), c.1036G>A (p.Val346Met), c.820C>T (p.Arg274Cys), c.803 T>C (p.Ile268Thr), and c.2T>G (p.Met1?). Conclusion: We are describing the largest cohort of patients with HVDDR-type II, their clinical biochemical findings, and the most prevalent genetic variants in our population.

Open repair of transverse cervical pseudoaneurysm.

A 40-year-old woman was referred to the vascular surgery clinic complaining of right shoulder pain and swelling secondary to blunt trauma 4 months ago. Computed tomography angiography showed a partially thrombosed supraclavicular pseudoaneurysm adjacent to the subclavian artery measuring 4.5 × 4 × 3.1 cm. Open repair surgery with resection of the pseudoaneurysm was successfully performed without injury to the capsule. Patient was stable and discharged 2 days later with no complications.

Explorative laparotomy of cecal volvulus in a pediatric patient. A case report and review of literature.

INTRODUCTION AND IMPORTANCE: Cecal volvulus is a rare intestinal pathology that occurs due to abnormal cecum mobility associated with spectrum of complications. It is usually manifested in adults. However, on extremely rare occasions, it occurs in pediatrics. We presented a case of cecal volvulus demonstrating the significance of early diagnosis and treatment to reach successful outcomes. CASE PRESENTATION: A 12 year old boy who presented to the emergency department for clinical evaluation for acute abdomen. History and clinical examination was suggestive of acute bowel obstruction. Abdominal x-ray showed a large, distended gas filled viscus with base pointed towards the right lower quadrant. On the bases of radiological investigations, diagnosis of cecal volvolus made. Accordingly, the patient underwent emergency exploratory laparotomy. The post operative course was uneventful and was discharged in stable condition. CLINICAL DISCUSSION: Cecal volvulus is an extremely rare manifestation of intestinal obstruction and malrotation. The clinical presentation of cecal volvulus depending on the duration and extent of the involvement of cecal malrotation The exact pathogenesis of cecal volvulus is unclear. However the association of the embryological development of the colon, affects the attachment to the posterior parietal peritoneum after ordinary anatomical rotation of 270°. The core-stone management of cecal volvulus is surgical approach. CONCLUSION: Cecal volvulus requires a high index of suspicion and delicate care by the pediatric surgeon as it is considered an extremely rare entity in this age group. We highlighted the significance of early diagnosis, surgical treatment and the possibility of developing postoperative complications if left untreated.

Frontonasal Encephalocele Complicated With Pseudotumor Cerebri: A Case Report and Literature Review.

Primary pseudotumor cerebri syndrome (PPTS) is a rare disorder of elevated intracranial pressure (ICP) in the absence of an identifiable underlying etiology. Afflicted patients are usually obese women in their reproductive age presenting with symptoms of elevated ICP. Seldom, patients can present with an encephalocele. We reported a case of a 31-year-old female who initially presented to our center with complaints of headaches, foreign body sensation in the nasal cavity, and decreased ability to smell. Brain computed tomography (CT) scan showed a large intranasal encephalocele and defect along the frontal skull base, through which brain tissue was herniating. The patient was successfully treated surgically by implantation of a lumboperitoneal shunt to manage the high ICP caused by her PPTS. In combination, reconstruction of the frontal skull base defect for the encephalocele was performed. Currently, the patient is doing well despite some on-and-off headaches.

Transverse testicular ectopia: two case reports and literature review.

INTRODUCTION AND IMPORTANCE: Transverse Testicular Ectopia (TTE) is characterized by the presence of testis in the hemiscrotum, which can be associated with a broad spectrum of complications. It is usually manifested in pediatrics. However, on rare occasions, it can occur in adults. The diagnosis is confirmed by magnetic resonance imaging (MRI). We present two cases of Transverse Testicular Ectopia (TTE), demonstrating the significance of early diagnosis and treatment to reach optimal outcomes. CASE PRESENTATION: We reported two patients with common features suggestive of Transverse Testicular Ectopia (TTE). Case 1 had open surgery; his left testis was impalpable, whereas his right side was palpable. Case 2 had undergone laparoscopy surgery, and his right and left spermatic cord was discovered on the right side. CLINICAL DISCUSSION: Transverse Testicular Ectopia (TTE) is classified according to clinical presentation; Type 1 is associated with inguinal hernia ranging between 40 and 50 %. Type 2 is related to persistent mullerian duct syndrome (PMDS), with a rate of 30 %. Type 3 is associated with genital anomalies and azoospermia, with a rate of 20 %. The pathogenesis is unclear. However, studies suggest that the persistence of the mullerian duct prevents normal descent of the testis. Treatment is purely dependent on early clinical presentation and surgical methods. CONCLUSION: Transverse Testicular Ectopia (TTE) requires delicate care by the pediatric surgeon as it is considered a rare entity in such cases. Heroin, we highlight the significance of early surgical treatment and the possibility of complications if left untreated.

Papillary Thyroid Cancer With Pituitary Gland Metastasis: A Unique Encounter.

The pituitary gland is a rare metastatic site, and thyroid cancer (TC) metastasis to the pituitary gland is immensely uncommon. We report the case of a 45-year-old male in whom pituitary metastasis (PM) discovery during the immediate postoperative period complicated the management of papillary thyroid cancer (PTC). His postoperative magnetic resonance imaging (MRI) of the pituitary lesion showed a progression in size with persistent optic nerve compression. The critical location of the pituitary lesion and the rapid progression dictated the treatment course. The pituitary lesion was non-iodine avid, and thus we opted for external beam radiation therapy (EBRT). He received 1,200 centigray (cGy) with Gamma knife radiosurgery with steroid cover. In our case, the aggressive histological and clinical variant of PTC consisted of multiple metastatic sites involving large volume pulmonary, skeletal, and chest wall lesions coupled with crucial macro metastatic pituitary mass. The patient was offered radioactive iodine to treat other iodine avid metastases in the lungs and bones and was also offered EBRT to target skeletal lesions. Systemic treatment with tyrosine kinase inhibitor was also discussed with the patient. Our case encourages clinicians to exercise vigilance and a high index of suspicion for PM when a patient with any pre-existing cancer presents with visual disturbance, cranial nerve deficit, or symptoms suggestive of hormonal deficiency. It also highlights the importance of involving endocrinologists before performing any surgery on the endocrine organs to ascertain the integrity of the endocrine function of the glands.

Antithyroid Drugs in the Management of Graves' Disease: A Friend and Foe.

Graves' disease is an autoimmune condition in which the patient develops autoantibodies that stimulate the thyroid gland, leading to thyrotoxicosis. We report the case of a 29-year-old female who presented one month postpartum with typical symptoms and signs of thyrotoxicosis. Biochemical and radiological investigations confirmed thyrotoxicosis due to Graves' disease. She received methimazole (MMI) treatment, leading to an allergic reaction in the form of a generalized rash on the body precluding its use. We later started the treatment with propylthiouracil, which she initially tolerated well. During her treatment, she became pregnant and delivered a baby girl by cesarean section at 37 weeks of gestation. The baby developed neonatal thyrotoxicosis due to the transplacental transmission of maternal thyrotropin receptor antibodies. Thyrotoxicosis was short-lived, without consequences, and treated with antithyroid drugs. Three months after delivery, thyroid hormone levels rose considerably, requiring higher doses of propylthiouracil, which resulted in severe hepatic dysfunction, and therefore we stopped the therapy. We admitted her to the hospital for rapid correction of thyroid hormones using steroids, supersaturated potassium iodide, and cholestyramine before she underwent a total thyroidectomy. Our case highlights the challenges the patients and clinicians can face while managing Graves' disease. We discuss the role of a multidisciplinary team approach to care and the options available for treatment in such difficult situations.

The Endoscopic Resection of Sellar and Suprasellar Epidermoid Cyst in a Pediatric Patient: A Case Report and Review of the Literature.

Epidermoid cysts are benign congenital tumors that originate from the ectodermal tissue. The sellar/suprasellar region is an infrequent location for epidermoid cysts and such cases are rarely reported in pediatric patients, as these become symptomatic only when they reach 30 years of age. Surgical intervention is considered the ideal treatment option in patients with suprasellar epidermoid cysts, either via open or endonasal approach. We discuss a case of a 12-year-old male who presented with left visual impairment and was treated with successful resection through an endoscopic endonasal approach (EEA). We also engage in a literature review of the use of EEA in the management of sellar/suprasellar epidermoid cysts in the pediatric age group.