Repeat transcranial Doppler ultrasound imaging in Kuwaiti children with sickle cell disease after a 10-year interval: A prospective, cohort study.

Objectives: Transcranial Doppler imaging (TCDI) of the cerebral arteries is the method of choice to predict patients with sickle cell disease (SCD) at risk for stroke. This study reports TCDI follow-up of cerebral blood flow in a cohort of Kuwaiti children with SCD after a 10-year interval. Methods: Twenty-one pediatric patients with SCD, aged 16.0 ± 1.6 years were initially studied when they were aged 6.5 ± 1.2 years. TCDI scanning was carried out using a phased-array transducer of 1-3 MHz through the trans-temporal window. Peak systolic velocity (PSV), end-diastolic velocity (EDV), time-averaged mean of the maximum velocity (TAMMV), resistive index (RI), and pulsatility index (PI) were obtained in the anterior and posterior Circle of Willis vessels. Results: The follow-up indices were mostly lower than in the initial study although they remained within the normal range in all the arteries. TAMMV was less than 170 cm/s, and PSV did not exceed 200 cm/s in all vessels. The initial and follow-up TAMMV (mean ± SD) were: 77.3 ± 20.9 and 71.6 ± 9.9 in the terminal internal carotid artery, 94.3 ± 25.8 and 82 ± 18.2 in the middle cerebral artery, 76.6 ± 25.6 and 70.6 ± 10.7 in the anterior cerebral artery, and 59.1 ± 15.8 and 63.9 ± 8.5 in the posterior cerebral artery, respectively. The mean differences between the old and follow-up data for RI, and PI were statistically significant (p < 0.05). Conclusions: Kuwaiti patients with SCD appear to be largely protected from cerebral artery vasculopathy in childhood.

Moyamoya syndrome in a child with HbEß-thalassemia.

Moyamoya is a progressive cerebrovascular disease associated with stenosis or occlusion of the arteries of the Circle of Willis. It is uncommon in thalassemia. We present a 9-year-old girl with HbEß-thalassemia who presented with headache, vomiting, and episodes of transient hemiparesis with complete occlusion internal carotid arteries.

Perforated Duodenal Ulcer Associated with Deferasirox in a Child with ß-Thalassemia Major.

The oral iron chelator, deferasirox (DFX), is commonly associated with mild gastrointestinal (GI) complaints, but GI hemorrhage and ulcers have occasionally been reported. However, perforated duodenal ulcer (PDU) has been previously reported in only one patient with ß-thalassemia major (ß-TM) on Exjade (DFXE). We hereby report the second case of a 5-year-old Syrian patient, who recently presented with PDU while on DFXE. She was not on any other ulcerogenic medication and was negative for H. pylori and Celiac disease. She had a surgical repair and has done well. She is back on DFX, but with the film-coated tablet, Jadenu or DFXJ. Perforated duodenal ulcer should be suspected in patients with severe GI symptoms, abdominal distension and tenderness while on DFXE, especially at high doses (30+ mg/kg).

Neutrophilic Panniculitis in a child with MYSM1 deficiency.

Neutrophilic panniculitis (NP) with myelodysplasia has been described in adults but not in children. We report a case of NP associated with myelodysplasia in a child with MYSM1 deficiency, a newly described syndrome with primary immunodeficiency (PI), bone marrow failure, and developmental aberrations.