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 HbEβ‐thalassemia who presented with headache, vomiting, and episodes of transient hemiparesis with complete occlusion internal carotid arteries.
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.
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. The present study reports TCDI follow-up of cerebral blood flow in 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 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 differences between the old and follow-up data for PSV, 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.
IntroductionHaemophilia (A, B) is an uncommon inherited disorder worldwide. This study is a review of paediatric haemophilia in Kuwait.MethodThis was a cross-sectional study involving all the haemophilia (A, B) patients currently followed in the paediatric haematology clinics in Mubarak, Amiri and Adan hospitals in Kuwait. Informed consent was obtained as appropriate. Patients’ initial presentation, clinical findings, family history, laboratory data, clinical course, management and complications were documented.ResultThere were 30 patients – 20 haemophilia A and 10 haemophilia B. Of the former, 10 (50%) presented before 6 months of age, 7 (35%) between 6 months to 2 years, 3 (15%) between 2 – 6 years. Five (50%) of haemophilia B presented between 6 months and 2 years, two (20%) between the age 2 – 6 years, two patients after 6 years and one at birth.Nine (45%) of the haemophilia A patients presented with prolonged bleeding, 3 (15%) with mucous membrane bleeding and 3 with hemarthrosis. Two had spontaneous CNS bleeding, and one with intramuscular bleeding.Five (50%) haemophilia B patients presented with mucous membrane bleeding; 30% were diagnosed during routine screening. The rest one with hemarthrosis and one patient with prolonged bleeding after cut wound.There was a positive family history in 13 (65%) patients with haemophilia A and in 80% of haemophilia B. Among the haemophilia A patients, factor deficiency was severe in (75%), moderate in 3 patients and mild in 2 patients. In haemophilia B, 60% were moderate while 40% were severe.Most of the severe patients are on prophylactic treatment with no more evidence of target joints or severe bleeding. Only 3 patients developed high titer inhibitors for factor VIII. They are treated with bypassing agents. None of our patients developed viral infections from the plasma-derived product.ConclusionMost paediatric haemophilia patients in Kuwait have haemophilia A, which presents commonly with prolonged bleeding while haemophilia B (seen in 30%) is more likely to have mucous membrane bleeding.
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