Kounis Syndrome Associated With Takotsubo Syndrome in an Adolescent With Peutz-Jeghers Syndrome.

We describe the case of a 15-year-old female patient with Peutz-Jeghers syndrome who presented with vomiting and abdominal pain secondary to ileoileal invagination. Initial analgesic treatment was not effective, and subsequent tramadol infusion resulted in clinical manifestations compatible with Kounis and Takotsubo syndromes. However, the patient had an excellent recovery. (Level of Difficulty: Advanced.).

Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report.

BACKGROUND: Cobalamin C (cblC) defect is the most common inborn error of Vitamin B12 metabolism often causing severe neurological, renal, gastrointestinal and hematological symptoms. Onset with pulmonary hypertension (PAH) and atypical hemolytic-uremic syndrome (aHUS) is rare. CASE PRESENTATION: We describe the case of a 2-years old child, previously in good health, admitted to the hospital with severe respiratory symptoms, rapid worsening of clinical conditions, O2 desaturation and palmo-plantar edema. The patient showed PAH and laboratory findings compatible with aHUS. cblC defect, an inborn error of metabolism, was identified as the cause of all the symptoms described (cardiac, respiratory and renal involvement). Results of neonatal screening for inborn errors of metabolism had been negative. Administration of IM OHCbl (intramuscular hydroxocobalamin), oral betaine and symptomatic treatment with diuretics and anti-hypertensive systemic and pulmonary drugs induced dramatic improvement of both cardiac and systemic symptoms. CONCLUSIONS: In this case of cblC defect the metabolic treatment completely reverted symptoms of aHUS and PAH. The course was favorable, and the prognosis is what we foresee for the future.

[Usefulness of Doppler ultrasound in the diagnosis of renal artery stenosis in hypertensive children. Two case reports and review of the literature]. / Utilità dell'ecografia Doppler per la diagnosi di stenosi delle arterie renali nel bambino con ipertensione arteriosa. Descrizione di due casi e revisione della letteratura.

Renal artery stenosis, mainly due to fibromuscular dysplasia, is the second more common cause of arterial hypertension in children, after aortic coarctation. Two children sent to our Center of Pediatric Cardiology, one for arterial hypertension and the other for renal failure (associated with severe hypertension not previously recognized) are reported. In both of them the diagnosis of renal artery stenosis was established at Doppler ultrasonography, performed at the time of Doppler echocardiography. Both children were submitted to successful percutaneous transluminal angioplasty; short- and medium-term results are evaluated by Doppler ultrasonography. Renovascular disease is a potentially curable cause of renal artery stenosis in children. Renal artery evaluation by Doppler ultrasound is recommended in all hypertensive children who undergo Doppler echocardiography.