Severe Hypertriglyceridemia

Severe Hypertriglyceridemia (SHTG) involves markedly elevated triglyceride levels in the blood, significantly raising the risk of cardiovascular disease and pancreatitis. Prompt diagnosis and timely intervention are essential for effective management.

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Eosinophilic Esophagitis

Eosinophilic Esophagitis (EoE) is a chronic immune-mediated condition in which eosinophils, a type of white blood cell, accumulate in the lining of the esophagus—the tube connecting the mouth to the stomach. Clinically, EoE presents with symptoms of esophageal dysfunction, while histological examination reveals inflammation dominated by eosinophils.

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Developmental and Epileptic Encephalopathies

Developmental and Epileptic Encephalopathies (DEE) comprise a group of severe epileptic disorders characterized by both frequent, often drug-resistant seizures and significant developmental impairment. The term “encephalopathy” in this context refers to marked delays in developmental milestones or, in some cases, loss of previously acquired skills.

DEE syndromes typically begin in the neonatal period, infancy, or early childhood and include: early myoclonic encephalopathy, Ohtahara syndrome, West syndrome, Dravet syndrome (severe myoclonic epilepsy of infancy), Lennox–Gastaut

Primary Ciliary Dyskinesia

Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder affecting the structure and function of cilia, tiny hair-like structures that help clear mucus from the respiratory tract. Impaired ciliary movement leads to chronic respiratory infections, sinusitis, and sometimes situs inversus. Early diagnosis and management, including physiotherapy and antibiotics, are crucial to reduce complications and improve quality of life.

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Congenital Adrenal Hyperplasia

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