ABSTRACT
Familial hyperparathyroidism is a rare, inherited endocrine disorder characterized by abnormally elevated serum calcium due to increased parathyroid hormone levels. In this case report, we present a two-day-old male newborn who was admitted with severe respiratory distress, hyperparathyroidism, and hypercalcemia with a family history of hyperparathyroidism in his two siblings, both diagnosed in childhood and treated with parathyroidectomy. He was diagnosed with familial hyperparathyroidism without other endocrinopathies. His left parathyroid glands were surgically removed, and post-operatively, his parathyroid hormones and calcium levels normalized. Pathological examination of the removed parathyroid glands confirmed parathyroid hyperplasia. This is a successfully managed case of familial hyperparathyroidism in the neonatal period. Therefore, as the patient grows up, a close follow-up is recommended for early detection and managing multiple endocrine neoplasia type 1 that may be present later in life.
ABSTRACT
We report the case of an 8-month-old female infant presenting with bilateral, diffusely enlarged kidneys. A diagnosis of bilateral, universal nephroblastomatosis was made on tissue biopsies from both kidneys after correlation with the radiological findings. As far as we know, this is the oldest patient reported with this diagnosis in the English literature (they are usually younger than 4 months). The patient was treated with chemotherapy with very good response and almost 1 year later she is showing no signs of recurrence of her disease.
Subject(s)
Antineoplastic Combined Chemotherapy Protocols/therapeutic use , Kidney Neoplasms/diagnosis , Kidney Neoplasms/drug therapy , Tomography, X-Ray Computed , Wilms Tumor/diagnosis , Wilms Tumor/drug therapy , Antibiotics, Antineoplastic/administration & dosage , Antineoplastic Agents, Phytogenic/administration & dosage , Dactinomycin/administration & dosage , Doxorubicin/administration & dosage , Female , Humans , Infant , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/pathology , Treatment Outcome , Vincristine/administration & dosage , Wilms Tumor/diagnostic imaging , Wilms Tumor/pathologyABSTRACT
The authors report 2 cases of large intrathoracic esophageal perforation, as a complication of foreign body in 2 boys, 4 and 9-years-old. The delay in diagnosis was more than 36 hours in both cases that were treated successfully by a large pleural flap. Postoperatively, solid oral feeding was initiated after 2 weeks. Although gastrostomy was not performed on both patients, in cases of large esophageal perforation, it is recommended to establish early feeding and prevent aggressive vomiting.
Subject(s)
Esophageal Perforation/etiology , Esophageal Perforation/surgery , Esophagus , Foreign Bodies/complications , Surgical Flaps , Child , Child, Preschool , Esophageal Perforation/diagnostic imaging , Follow-Up Studies , Foreign Bodies/diagnostic imaging , Humans , Male , Pleura/transplantation , Risk Assessment , Severity of Illness Index , Thoracotomy , Time Factors , Tomography, X-Ray Computed , Treatment OutcomeABSTRACT
Congenital esophageal stenosis CES is an uncommon anomaly that rarely goes undiagnosed until adulthood. We report 2 cases of CES. The first was a one-month-old baby boy who was referred for work up of swallowing disorder and recurrent pneumonias. The diagnosis was confirmed by a continuous fluoroscopic esophagogram, and endoscopic exploration. Simple dilatation resolved his symptoms completely. The second was an 18-month-old boy, who was referred with a feeding gastrostomy due to complete esophageal obstruction. Resection and end-to-end anastomosis was performed with uneventful postoperative course.
