Departments of aInfectious DiseasebEar, Nose and ThroatcRadiologydClinical Genetics, Children’s University Hospital Temple Street, Dublin, Republic of Ireland
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List of key featuresRecurrent infections: recurrent upper respiratory tract and ear infections, low IgM levelsDysmorphic features: hypertelorism, flat nasal bridge, prominent foreheadDental abnormalities: absent left lower incisorSkeletal abnormalities: bilateral congenital radial head dislocations, long and thin fingers and toes, pes planus, bony exostosisEar abnormalities: moderate to severe bilateral mixed hearing loss involving the low frequencies and requiring hearing aids, conductive component presumed to be a result of a congenital ossicular abnormality and chronic suppurative otitis mediaGynaecology: irregular menstruation because of anovulatory cyclesSummaryA female infant, weighing 3.29 kg, was born at 42 weeks’ gestation by spontaneous vaginal delivery following an uneventful pregnancy. She is one of three children of a nonconsanguineous Irish couple with no relevant past family medical history.In infancy, she had a hypersensitive gag reflex that resulted in feeding difficulties. At 5 months, she was noted to have dysmorphic features including hypertelorism and frontal bossing (Image 1). Bilateral congenital radial head dislocations were diagnosed at 6 months of age (Fig. 1a and b). At 6 years of age, additional features were noted including a broad nasal bridge, a single mandibular incisor in her lower gum (Image 2), long fingers and toes, narrow feet, marked pes planus and a bony exostosis of the proximal fibula (Fig. 2).At 5 years of age, she presented with chronic otorrhoea and delayed speech. She was found to have bilateral subtotal tympanic membrane perforations. A pure tone audiogram at this stage indicated a moderate to severe mixed hearing loss in the low frequencies bilaterally. Her hearing thresholds in the high frequencies were normal. She was treated with regular microsuction and topical antimicrobials. She was fitted with bilateral hearing aids. Bilateral staged tympanomastoidectomies were planned for when she was older.Immunizations were completed in accordance with the national schedule. Immunologic investigations at 9 months of age indicated normal immunoglobulin (Ig) levels, except for an isolated low IgM level of 0.15 g/l (range: 0.6–2.1 g/l). Lymphocyte subsets showed normal B cell numbers and slight depression of CD8 cells. Specific antibody responses including pneumococcal antibodies and responses to tetanus and Haemophilus influenzae vaccines were appropriate when checked at age 7 years. The presence of a significant primary immune deficiency was considered an unlikely cause of her recurrent infective episodes.At 5 years of age, a computed tomography of the temporal bones showed poorly pneumatized mastoids bilaterally in keeping with chronic otitis media. There were no bony erosions. At 8 years of age, she underwent an elective left-sided cortical mastoidectomy and tympanoplasty as planned and was found to have a tympanic membrane perforation with a foreshortened long process of malleus and an overall stiff ossicular chain. She underwent the same procedure on the right side 3 years later and her right ossicular chain was also noted to be abnormal. Because of the congenital ossicular abnormalities, she was considered unsuitable for ossiculoplasty. There was no keratin in either ear in keeping with chronic suppurative otitis media.Long-term follow-up showed that both tympanic membrane perforations healed. Her audiogram was unchanged compared with her preoperative audiogram. She continued to wear bilateral hearing aids with success.When tested at ages 5, 6, 7 and 8 years, IgM levels remained low (median: 0.27 g/l; range: 0.21–0.4 g/l) and at age 16 the level was 0.35 g/l (range: 0.5–1.9 g/l). IgA, IgG and IgG subclass levels were normal throughout.