A rare case of H syndrome with severe multisystem involvement: Clinical challenges in low-resource healthcare settings
Abstract
H syndrome, a rare autosomal recessive disorder, is caused by pathogenic variants in the SLC29A3 gene located on chromosome 10q22. The clinical phenotype encompasses diverse manifestations, including hyperpigmentation, hypertrichosis, hepatosplenomegaly, hearing loss, heart anomalies, hypogonadism, short stature, hyperglycemia with insulin-dependent diabetes mellitus, and hallux valgus/flexion contractures. A 20-year-old Syrian male born to consanguineous parents presented with fever, productive cough, chest pain, dyspnea, and scrotal discomfort. His medical history included progressive bilateral sensorineural hearing loss, failure to thrive, and significant short stature (height 1.46 m and weight 44 kg). Physical examination revealed conjunctival pallor, icterus, jugular vein distention, hypertrichosis, hypoplastic genitalia, and decreased breath sounds and dullness to percussion that were consistent with pneumonia and pleural effusion. Hormonal evaluation indicated primary hypogonadism and growth hormone deficiency. Echocardiography revealed pulmonary hypertension and tricuspid valve insufficiency. Chest imaging confirmed bilateral pleural effusion and lung infiltrates. The constellation of clinical findings, including hypogonadism, hypertrichosis, hallux valgus, and hepatosplenomegaly, collectively suggested H syndrome. The patient received supplemental oxygen therapy, resulting in improved oxygen saturation. Empirical antibiotic therapy consisting of intravenous…
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