Pyridoxine-dependent epilepsy caused by an ALDH7A1 mutation in an infant girl: the first case report in Syria.

Background: Pyridoxine-dependent epilepsy is primarily characterized by early-onset refractory seizures. This condition can be caused by alpha-aminoadipic semialdehyde dehydrogenase deficiency due to a mutation in the ALDH7A1 gene, leading to the accumulation of certain substances that impact the production of various brain neurotransmitters and enzymes.

Case Presentation: Our report presents the first documented case of pyridoxine dependency in Syria.

Pleuropulmonary Epithelioid Hemangioendothelioma.

We present the CT, thoracoscopic, and histological findings of a 55-year-old female with pleuropulmonary epithelioid hemangioendothelioma. The CT scan revealed pleuropulmonary lesions, and thoracoscopy allowed direct visualization and biopsy of the lesions. Histological analysis confirmed the diagnosis, emphasizing the utility of combining imaging, endoscopic, and pathological methods in diagnosing this rare tumor.

Comparative analysis of pediatric pulmonary and extrapulmonary tuberculosis: A single-center retrospective cohort study in Syria.

Background: Tuberculosis (TB) is a global public health challenge, contributing significantly to morbidity and mortality worldwide. This research aims to investigate the epidemiology, clinical characteristics, diagnostic methods, and early mortality rate among pediatric patients with pulmonary tuberculosis (PTB) and extrapulmonary tuberculosis (EPTB) who were admitted to a hospital in Syria.

Methods: This retrospective cohort study was conducted at the University Children's Hospital in Syria, involving pediatric patients diagnosed with TB between January 2013 and January 2023.

Primary renal mucormycosis in a type 2 diabetic patient: A case report from Syria.

Mucormycosis is an opportunistic fungal infection that primarily affects immunocompromised individuals and rarely presents as renal mucormycosis (RM). Diagnosis can be challenging for many physicians. We report a rare case of primary, unilateral RM which triggered diabetic ketoacidosis in a type 2 diabetic patient.

Unusual Air Crescents on Chest Radiographs.

The air crescent (AC) is a common radiological sign. Even if its commonest aetiology remains pulmonary aspergillosis, various other causes have been described. In this study, we report four rare causes of ACs seen on chest radiographs that haven't been described in the literature.