thalassemia/eпилептички напад

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Extramedullary hematopoiesis of cranial dura mater and choroid plexus and terminal convulsions in a patient with thalassemia-hemoglobin E disease.

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Cyclosporin A-associated status epilepticus related to hematopoietic stem cell transplantation for thalassemia.

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Cyclosporin A is an essential drug for graft versus host disease (GvHD) prophylaxis in allogeneic hematopoietic stem cell transplantation. Cyclosporin A-associated neurotoxicity is common but poorly understood. The authors herein report on 3 patients receiving transplants for thalassemia. GvHD

Alpha-Thalassemia X-Linked Intellectual Disability Syndrome

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Clinical characteristics: Alpha-thalassemia X-linked intellectual disability (ATR-X) syndrome is characterized by distinctive craniofacial features, genital anomalies, hypotonia, and mild-to-profound developmental delay / intellectual disability (DD/ID).

Nephrogenic diabetes insipidus with intracranial calcification in a child with thalassemia minor.

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BACKGROUND There are numerous causes for intracranial calcification in children. We describe an unusual cause of intracranial calcification in a child, namely, nephrogenic diabetes insipidus (NDI). METHODS A 12-year-old boy presented with seizures and developmental delay. MRI of the brain revealed

Arterial ischemic stroke in a child with beta-thalassemia trait and methylentetrahydrofolate reductase mutation.

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Genetic and acquired disorders that foster a procoagulable state represent risk factors for stroke in childhood. Although an increased incidence of thromboembolic complications has been reported in patients with thalassemia, severe cerebral thromboembolism has rarely been observed in patients with

Antiphospholid antibody syndrome and Hb E/Beta thalassemia disease post-allogeneic stem cell transplantation.

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We report a 10-year-old male with Hb E/Beta thalassemia disease who developed chronic graft-versus-host disease (cGVHD) of antiphospholipid antibody syndrome after successful allogeneic stem cell transplantation (SCT). He exhibited a recurrent ischemic stroke on day 368 post-SCT while on

Febrile neutropenia and hemorrhagic stroke in a thalassemia major patient.

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A 36-year-old transfusion-dependent thalassemia major patient presented with febrile neutropenia and anemia. Deferiprone (L1) was discontinued as it was suspected to be the offending agent and prompt broad-spectrum antibiotic therapy was initiated after which the patient improved. After 11 days the

Hypoparathyroidism with extensive intracerebral calcification in patients with beta-thalassemia major.

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We report marked intracerebral calcification in eight thalassemic patients with hypoparathyroidism, followed regularly at the Haematology Research Center, Department of Pediatrics, Shiraz, Iran. Their mean age was 16.8 years (range 12-21 years). Six of the eight patients with thalassemia were

Beta-thalassemia major complicated by intracranial hemorrhage and critical illness polyneuropathy.

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Intracranial hemorrhage (ICH) is rarely seen in patients with thalassemia. A seven-year-old male, known case of beta-thalassemia major, on irregular packed cell transfusions (elsewhere) and non-compliant with chelation therapy, presented with congestive cardiac failure (Hb-3 gm/dl). He received

Syncopal Episodes of Arrhythmogenic Right Ventricular Cardiomyopathy in a Patient with Pre-existing Seizure Disorder.

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Arrhythmogenic right ventricular cardiomyopathy (ARVC), is a heritable condition that is an important, and under-recognized cause of sudden cardiac death. Microscopically, it is represented by fibrofatty replacement of myocardium involving the right ventricular inflow area, apex, and infundibulum.

CsA-associated neurotoxicity and ineffective prophylaxis with clonazepam in patients transplanted for thalassemia major: analysis of risk factors.

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Cyclosporin A (CsA) has been shown to be useful in the prophylaxis of acute graft-versus-host-disease (GVHD). However, this immunosuppressive agent produces multiple side-effects including nephrotoxicity, hypertension, hypertricosis, gum hyperplasia, infections, and neurotoxicity. We report a

Generalized tonic-clonic seizures in a thalassemic patient with hypoparathyroidism and brain calcinosis.

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Acquired hypoparathyroidism (HPT) is a not uncommon complication in patients with b-thalassemia major. The insufficient production of parathyroid hormone is mainly due to iron overload in parathyroid glands. We report a 22-year-old female thalassemic patient referred to our Unit for hypogonadism.

ATRX mutation in two adult brothers with non-specific moderate intellectual disability identified by exome sequencing.

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In this report, we describe two adult brothers affected by moderate non-specific intellectual disability (ID). They showed minor facial anomalies, not clearly ascribable to any specific syndromic patterns, microcephaly, brachydactyly and broad toes. Both brothers presented seizures. Karyotype,

ATRX is required for maintenance of the neuroprogenitor cell pool in the embryonic mouse brain.

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Mutations in the alpha-thalassemia mental retardation X-linked (ATRX) gene cause a spectrum of abnormalities including intellectual disability, developmental delay, seizures, and microcephaly. The ATRX protein is highly enriched at heterochromatic repetitive sequences adjacent to the centromere, and

Cardiac diseases as a risk factor for stroke in Saudi children.

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OBJECTIVE To ascertain the role of cardiac diseases as a risk factor for stroke in a cohort of Saudi children who were evaluated in a retrospective and prospective study. METHODS Children with cardiac diseases were identified from within a cohort of 104 Saudi children who presented with stroke. They

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