leptospirosis mimicking collagen vascular disease in a thirteen-year-old iranian girl

Bloom's syndrome in a 12-year-old Iranian girl

BACKGROUND Bloom's syndrome, an autosomal recessive inherited disorder, belongs to the group of chromosomal breakage syndromes. The clinical diagnosis of BS is confirmed cytogenetically. Its frequency in the general population is unknown but it is common in eastern European Ashkenazi Jews. CASE REPORT A 12-year-old girl was referred to us because of short stature. She was the second child of ...

Association of Behçet’s Disease with Osteogenesis Imperfecta in A Ten-Year-Old Girl

Osteogenesis Imperfecta (OI) is a genetic disorder characterized by bones that break easily, often from little or no apparent cause. In this article, we present a patient suffering from OI, who had concomitant active Behçet’s Disease(BD)with repeated oro-genital ulcers, skin postular eruptions and severe recurrent bilateral uveitis. This patient, is, to our knowledge the first reported case in ...

Fasting in a 16-year-old girl at-risk of autosomal dominant polycystic kidney disease

Autosomal dominant polycystic kidney disease (ADPKD) is the most common form of inherited kidney disease that results in renal failure. PKD currently has no causative therapy. However, some treatment options are available, ranging from symptomatic therapy to delaying the onset of end-stage renal failure. Early diagnosis of adult polycystic kidney disease is vital in order to prevent its complic...

Mediterranean Stomatocytosis/macrothrombocytopenia in A 9-Year-Old Girl

Parathyroid carcinoma with lung metastasis in a thirteen-year-old girl

Parathyroid carcinoma is a rare disease in pediatric patients. We present a case of a 13-year-old girl who presented to the Thyroid Department for an asymptomatic palpable neck mass for 1 year. The high levels of calcium, ionized calcium, and parathyroid hormone level along with parathyroid scintigraphy studies suggested primary hyperparathyroidism. Parathyroid carcinoma was confirmed by biopsy...

Kienböck's disease in a 12-year-old girl.

A case of avascular necrosis of the lunate in a 12-year-old girl is described. Conservative treatment resulted in a clinically normal wrist at three years' follow-up, despite obvious radiological changes.