A syndrome of hypoplastic sinuses, hydrocephalus, bronchiectasis, and hypogammaglobulinemia with functional antibody deficiency in twin girls.

BACKGROUND

A variety of syndromes are known to be associated with immune deficiency, some as a major part of the syndrome and some as an occasional finding.

OBJECTIVES

To report a newly defined syndrome of hydrocephalus, hypoplastic sinuses, cartilaginous webbing of the bronchi, bronchiectasis, and hypogammaglobulinemia with functional antibody deficiency in identical twin girls.

METHODS

Spirometry, radiography, computed tomography (CT), bronchoscopy, and laboratory tests were performed for diagnosis.

RESULTS

A girl (twin A) was evaluated at the age of 7 years for chronic cough and wheeze that worsened with exercise. Hydrocephalus had been diagnosed a year before evaluation. She was treated for cough variant asthma and was lost to follow-up until the age of 10 years. The cough had worsened progressively, and dyspnea was now apparent. Spirometry was consistent with reversible airway obstruction. A chest radiograph was suggestive of bronchiectasis. A chest CT scan showed bilateral upper lobe bronchiectasis. Hypogammaglobulinemia and functional antibody deficiency were noted. A CT scan of the sinuses revealed aplasia or severe hypoplasia of all the paranasal sinuses. Bronchoscopy revealed a grossly abnormal bronchial structure and atrophic-appearing bronchial mucosa. Twin B also had a history of hydrocephalus. Although she had no respiratory symptoms, chest CT revealed bronchiectasis, and she had obstruction on spirometry. Laboratory analysis revealed hypogammaglobulinemia and functional antibody deficiency. She became symptomatic 2 years after twin A.

CONCLUSIONS

This is a newly reported syndrome of hydrocephalus, absent sinuses, abnormalities of the bronchi, and functional antibody deficiency, which initially presented as cough and wheeze.