An adult patient with Kabuki syndrome presenting with Henoch-Schönlein purpura complicated with pulmonary hemorrhage

Abstract

We present a case of a 33-year-old woman with Kabuki syndrome (KS) presenting with Henoch-Schönlein purpura (HSP). She was admitted to our hospital with a brain abscess in the lateral ventricle and meningitis. She had been diagnosed with KS. Skin eruptions had appeared on her lower extremities, with arthralgia, cough, and hemoptysis. She suddenly developed pulmonary hemorrhage and respiratory failure. We intubated her trachea and started mechanical ventilation in the intensive care unit (ICU). Skin biopsy revealed leukocytoclastic vasculitis with granular depositions of immunoglobulin A (IgA) in dermal vessel walls, and she was diagnosed as having HSP. Supportive management and prednisolone at 20 mg x day(-1) cured the pulmonary hemorrhage and respiratory failure. On ICU day 27, she was weaned from mechanical ventilation. Pulmonary hemorrhage as a complication of HSP is rare and sometimes fatal. KS is often associated with an increased incidence of infection and congenital heart disease. Susceptibility to infection and pulmonary hypertension due to congenital heart disease in this patient may have led to the development of the pulmonary hemorrhage. Supportive care and steroid therapy appeared to be beneficial in the treatment of this patient with HSP with pulmonary hemorrhage.

Congenital heart defects in molecularly proven Kabuki syndrome patients

“…Weir et al () highlighted an association between Kabuki syndrome and premature atherosclerosis, suggesting that the syndrome itself may contribute to the predisposition also in absence of classical different risk factors. A case report of Henoch‐Schonlein purpura causing thrombosis has also been reported (Oto et al, ). In addition, the growth hormone deficiency described in patients with Kabuki syndrome (Devriendt, Lemli, Craen, & de Zegher, ) should be mentioned as an additional risk factor, since it known to be associated with endothelial dysfunction, increased intima medial thickness and reduced aortic distensibility.…”

Congenital heart defects in Kabuki syndrome

“…Totally 76 cases of KS were reported to be associated with congenital heart defects by 19 reports [6,7,[9][10][11][12][13][14][15][16][17][18][19][20][21][22][23][24][25]. Of them, the gender was expressed in 37 patients including 17 males and 20 females with a male-to-female ratio of 0.85:1.…”

De novo exonic deletion of KDM6A in a Chinese girl with Kabuki syndrome: A case report and brief literature review

“…Vera et al [Teixeira et al, ] described recurrent latex allergy after small surgery in an 11‐year‐old girl with KS. Jun et al [Oto et al, ] reported a 33‐year‐old female with KS and accompanying Henoch–Schönlein purpura. More recently, Lindgren et al [] described a female with disrupted KDM6A function caused by a translocation at intron 2 who presented with an eczematoid rash on her cheeks and thighs and allergy to sulfa drugs, vancomycin, and ibuprofen.…”