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1.
Glob Pediatr Health ; 11: 2333794X241280116, 2024.
Article in English | MEDLINE | ID: mdl-39381790

ABSTRACT

Hemophilia is a congenital coagulopathy characterized by a deficiency of coagulation factors and the development of haematomas and haemarthrosis, either spontaneously or after minor trauma. Recurrent joint hemorrhage in hemophilia patients leads to progressive and degenerative arthropathy, which affects around 90% of patients with severe disease and contributes significantly to disease morbidity. Positive diagnosis is based on biology. Imaging, particularly MRI, plays an essential role in assessing the evolution and complications, especially osteoarticular complications. We report 2 cases of severe hemophilia A, who presented with almost identical clinical and radiological symptoms. The patients developed severe arthropathy with a course marked by recurrences of haemarthrosis.

2.
SAGE Open Med Case Rep ; 12: 2050313X241272624, 2024.
Article in English | MEDLINE | ID: mdl-39234001

ABSTRACT

Primary hyperparathyroidism (PHPT), an endocrine disorder most commonly caused by parathyroid adenoma (PTA), manifests with a diverse array of symptoms, reflecting the multisystem impact of parathyroid hormone: nephrolithiasis, peptic ulcer disease, psychiatric disorders, muscle weakness, constipation, polyuria, pancreatitis, myalgia, and arthralgia. Rarely do these PTA attain a significant size. PHPT is usually diagnosed through biochemical tests, and radiological imaging characterizes the adenoma. Serum 25-hydroxyvitamin D levels are useful in explaining the large adenoma size. Here, we report a rare case of a 60-year-old female from Morocco who presented with marked dyspnea due to a giant PTA.

3.
Glob Pediatr Health ; 11: 2333794X241273210, 2024.
Article in English | MEDLINE | ID: mdl-39205859

ABSTRACT

The arteria lusoria or retroesophageal right subclavian artery is the most common malformation of the aortic arch. It may be discovered with some symptoms of airway and/or esophageal compression, such as dyspnea or dysphagia, but in most cases it is an asymptomatic pathology. We report a case of a 3 months old patient diagnosed with Down syndrome who was admitted for pulmonary infection with incidental finding of retrooesophageal right subclavian artery.

4.
SAGE Open Med Case Rep ; 12: 2050313X241265047, 2024.
Article in English | MEDLINE | ID: mdl-39071189

ABSTRACT

MRKH syndrome, or Mayer-Rokitansky-Küster-Hauser syndrome, a rare congenital disease, manifests as a complete or partial aplasia of the uterus and the vagina's upper two-thirds with normal external genitalia and functioning ovaries. Mayer-Rokitansky-Küster-Hauser syndrome can occur in isolation (type I) or in conjunction with other congenital extragenital deformities affecting the kidneys, skeleton, heart, eyes, or auditory system (type II). The diagnosis of Mayer-Rokitansky-Küster-Hauser syndrome typically relies on imaging studies, with transabdominal ultrasonography serving as the primary modality. However, magnetic resonance imaging is considered the gold standard for detailed assessment of internal genital anatomy. We present the case of an 18-year-old woman without any notable medical history who exhibited primary amenorrhea. Mayer-Rokitansky-Küster-Hauser syndrome type II was suspected on pelvic ultrasound and subsequently confirmed via magnetic resonance imaging. The patient was provided with psychological assistance and planned for vaginoplasty.

5.
SAGE Open Med Case Rep ; 12: 2050313X241245285, 2024.
Article in English | MEDLINE | ID: mdl-38585418

ABSTRACT

Gastric diverticula are a rare condition; they are divided into true diverticula, which are congenital, and pseudodiverticula, which are acquired. True diverticula are usually located in the posterior fundus wall, below the esophagogastric junction, and appear on abdominal computed tomography as a cystic mass that is commonly taken for an extra digestive mass, especially adrenal mass. We report the case of an asymptomatic 24-year-old female patient with gastric diverticulum who was mistakenly diagnosed in ultrasound with a renal mass.

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