Negative pressure dressing for promoting wound healing of purpura fulminans in a newborn with homozygous protein C deficiency.

A negative pressure dressing to promote wound healing of purpura fulminans in a girl aged 35 days with homozygous protein C deficiency is reported. Two wounds of 11 x 11 cm2 at the abdominal wall and 14 x 14 cm2 at the left trunk were covered with sterile sponges embedded with a multiple-hole drain tube and transparent plastic film. The exposed end of the drain was then connected to the wall suction apparatus to create negative pressure at -120 mmHg. The dressing was changed every 2 days. Within 4-6 weeks, the wounds were completely healed and skin grafting was not required.     

Fibromuscular dysplasia: a rare cause of cilioretinal artery occlusion in childhood

OBJECTIVE: To report a case of cilioretinal artery occlusion with angiographic findings characteristic of the "string of beads" associated with renovascular hypertension secondary to fibromuscular dysplasia of the renal artery in a child. DESIGN: Case report. INTERVENTION: The patient underwent ex vivo renal artery reconstruction with saphenous vein graft and reimplantation. MAIN OUTCOME MEASURES: The main clinical outcomes were control of severe hypertension, reversible hypertensive retinopathy, and improvement of vision. RESULTS: Revascularization of the kidney improved renal function, and renovascular hypertension was clearly improved. Visual acuity improved to 20/200. CONCLUSIONS: A child with hypertensive retinopathy and arterial occlusion in the retina should undergo investigation to rule out a surgically curable hypertension. Magnetic resonance angiography of extrarenal vessels may reveal other sites of involvement of fibromuscular dysplasia. Evaluation and early diagnosis of renovascular hypertension will prevent severe end-organ damage.     

The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees

Leber hereditary optic neuropathy (LHON) is characterized by acute or subacute bilateral visual loss, and affects mostly young males. The most common mitochondrial DNA mutation responsible for LHON worldwide is G11778A. Despite different genetic backgrounds, which are believed to influence the disease expression, most features of LHON are quite common in different populations. However, there seem to be a few ethnic-specific differences. Analyses of our 30 G11778A LHON pedigrees in Thailand showed some characteristics different from those of Caucasians and Japanese. In particular, our pedigrees showed a lower male to female ratio of affected persons (2.6:1) and much higher prevalence of G11778A blood heteroplasmy (37% of the pedigrees contained at least one heteroplasmic G11778A individual). Heteroplasmicity seemed to influence disease manifestation in our patients but did not appear to alter the onset of the disease. The estimated overall penetrance of our G11778A LHON population was 37% for males and 13% for females. When each of our large pedigrees were considered separately, disease penetration varied from 9 to 45% between the pedigrees, and also varied between different branches of the same large pedigree. Survival analysis showed that the secondary LHON mutations G3316A and C3497T had a synergistic deleterious effect with the G11778A mutation, accelerating the onset of the disease in our patients.