Successful treatment of pulmonary arterial hypertension in a 2-month-old female infant with incontinentia pigmenti: A case report.

Incontinentia pigmenti (IP) is a rare X-linked dominant neuroectodermal dysplasia affecting almost exclusively females. It is caused by loss-of-function mutations in the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase gamma gene, formerly known as NF-κB essential modulator. The disorder is typically identified by peculiar skin findings that develop throughout the 1st year of life. Approximately one-third of patients has ocular and neurologic abnormalities causing severe disability. Defects of hair, nails, and teeth can also occur. Among systemic complications, pulmonary arterial hypertension (PAH) is uncommon but potentially life-threatening. Only six cases have been described in the literature so far, and four of them died before reaching 1 year of age. Herein, we report the case of a 2-month-old girl with IP and severe PAH, successfully treated with pulmonary antihypertensive and anti-inflammatory therapy.

Lumbar swelling and migrating edema in 3- and 4-year-old boys.

Henoch-Schönlein purpura is the most common systemic vasculitis in children, characterized by IgA deposits in small vessels. The etiology is unknown, but Henoch-Schönlein purpura typically follows an upper respiratory infection, or less frequently other infective or chemical triggers. The classic tetrad of symptoms includes palpable purpura (mandatory criterion), arthralgias, abdominal pain, and renal involvement. However, the cutaneous rash of Henoch-Schönlein purpura is not the presenting sign in approximately one-quarter of patients. Moreover, the other typical manifestations can present isolated or nuanced; for that reason, a prompt diagnosis may be challenging. Other clinical findings such as subcutaneous edema in hands, ankles, and feet, are quite common at pediatric Henoch-Schönlein purpura onset. Edema occurring in other locations (i.e facial and genital swelling), is uncommon, but can be a helpful additional clinical sign of Henoch-Schönlein purpura. To our knowledge, only two cases of lumbar swelling as Henoch-Schönlein purpura presentation signs have been described in literature so far.

Recurrent Stroke after Transcatheter PFO Closure in Cryptogenic Stroke or Tia: Long-Term Follow-Up.

BACKGROUND: There are few data on the mechanism of recurrent neurological events after transcatheter closure of patent foramen ovale (PFO) in cryptogenic stroke or TIA. METHODS: We retrospectively reviewed PFO closure procedures for the secondary prevention of cryptogenic stroke/TIA performed between 1999 and 2014 in Bologna, Italy. RESULTS: Written questionnaires were completed by 402 patients. Mean follow-up was 7 ± 3 years. Stroke recurred in 3.2% (0.5/100 patients-year) and TIA in 2.7% (0.4/100 patients-year). Ninety-two percent of recurrent strokes were not cryptogenic. Recurrent stroke was noncardioembolic in 69% of patients, AF related in 15% of patients, device related in 1 patient, and cryptogenic in 1 patient. AF was diagnosed after the procedure in 21 patients (5.2%). Multivariate Cox's proportion hazard model identified age ≥ 55 years at the time of closure (OR 3.16, p=0.007) and RoPE score < 7 (OR 3.21, p=0.03) as predictors of recurrent neurological events. CONCLUSION: Recurrent neurological events after PFO closure are rare, usually noncryptogenic and associated with conventional vascular risk factors or AF related. Patients older than 55 years of age and those with a RoPE score < 7 are likely to get less benefit from PFO closure. After transcatheter PFO closure, lifelong strict vascular risk factor control is warranted.