Down-Syndrome associated with MBL-deficiency, IgG-deficiency, vasculitis and mutated prothrombin

Hermann M Wolf,Claudia Stöllberger,Josef Finsterer

doi:10.4067/s0034-98872009000100014

Hermann M Wolf, Claudia Stöllberger + Show 1 more

Open Access

https://doi.org/10.4067/s0034-98872009000100014

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Abstract

The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reported. We report a 30 year-old female with Down-syndrome associated with MBL-deficiency with the genotype LXA/HYD, IgG-deficiency, recurrent uro-genital infections, cutaneous vasculitis, G20.210A prothrombin mutation, deep venous thrombosis, and pulmonary embolism. MBL-deficiency in combination with IgG deficiency might have favored the development of recurrent uro-genital infections. Immunodeficiency might be also involved in the pathogenesis of cutaneous vasculitis. Deep venous thrombosis and pulmonary embolism were attributed to the genetically determined prothrombotic state and intake of oral contraceptives.

Highlights

The association of Down syndrome with mannose-binding lectin (MBL)-deficiency, recurrent infections and vasculitis has not been reported
IMMUNOLOGIC ABNORMALITIES IN DOWN SYNDROME - H Wolff et al Mannose-binding lectin (MBL)-deficiency is due to mutations in the MBL2 gene on chromosome 10, encoding for MBL
The presented patient is interesting for the concurrent occurrence of Down-syndrome, MBL-deficiency, IgGdeficiency, cutaneous vasculitis, and the G20210A prothrombin mutation

Summary

CASE REPORT

The patient is a 30-yo HIV-negative, Caucasian female, with typical features of a Down-syndrome, including epicanthus, long palpebral fissures, low-set ears, saddle nose, brachycephaly, flat face, eversion of the lateral portion of the lower eyelids, arched eyebrows with sparse lateral regions, long eyelashes, small ears, protruding tongue, muscular hypotonia, developmental delay, hyperflexibility of joints, brachydactyly, hypothyroidism, and dermatoglyphic abnormalities[4]. Since age 25y she experienced recurrent infections of the lower urinary tract and vulvitis. At age 29y, one month after initiation of an oral contraceptive (levonorgestrel 0.15 mg, ethinylestradiol 0.03 mg), she experienced a deep venous thrombosis of the left lower leg and bilateral, peripheral pulmonary embolism, which required oral anticoagulation with phenprocoumon during one year. At age 29y MBL-deficiency and IgG-deficiency were detected during extensive investigation for the cause of recurrent cutaneous vasculitis (Table 1). After discontinuation of fusidic acid, and administration of corticosteroids and antihistaminics, the allergenic skin reaction resolved completely. Her history was noteworthy for recurrent uro-genital infections. Radiologic investigations of the lower urinary tract, such as intravenous urography and ultrasound, were normal

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