A Pair of Sibling Patients With Premature Aging Syndrome of Unknown Etiology

TL;DR

Two siblings with unexplained premature aging and short stature are reported, with no known genetic cause identified.

Contribution

The report highlights a potential new type of premature aging syndrome with unknown etiology.

Findings

Both siblings showed signs of premature aging and marked short stature without known genetic mutations.

The brother exhibited severe atherosclerotic changes and high LDL cholesterol levels.

Whole-exome sequencing failed to identify significant mutations in either patient.

Abstract

Premature aging syndrome is a rare condition characterized by premature aging and death. The exact pathogenic mechanisms underlying most premature aging syndromes are poorly understood. Here, we describe two sibling cases of premature aging syndrome of unknown etiology, with no identified significant genetic mutation, with the primary symptom of a prematurely aged appearance, and a chief complaint of marked short stature. The first patient was an eight-year-old Cambodian boy born to a third-degree consanguineous marriage. He visited our hospital with the chief complaint of short stature. His development was originally normal until he developed pneumonia when he was three years old. Neither of his parents had any symptoms or family history of similar abnormalities, except for his five-year-old sister, who also has a markedly short stature of 80.4 cm and a low body weight of 8.7 kg. Her face showed distinct macrognathia and relative macrocephaly. The brother’s low-density lipoprotein cholesterol level was high (198 mg/dl), and brain magnetic resonance angiography and carotid ultrasound revealed severe atherosclerotic changes. Whole-exome sequencing results were insignificant for both patients. This case report aims to elucidate the pathogenesis and treatment of progeria. This report indicates the possibility of an unidentified type of premature aging syndrome.

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