Vitamin B12 deficiency in infants often produces haematological and neurological deficits, including macrocytic anaemia, neurodevelopmental delay or regression, irritability, weakness, hypotonia, ataxia, apathy, tremor, and seizures. The diagnosis of vitamin B12 deficiency can be difficult when the typical macrocytic anaemia is absent. We report the case of a 10‐month‐old female diagnosed with West syndrome associated with vitamin B12 deficiency but without macrocytic anaemia caused by nutritional inadequacy in the mother. The patient's motor skills and cognitive development were normal until she was 9 months old, when she began to exhibit a series of sudden flexions of the head, trunk, arms, and legs. She was exclusively breast‐fed and had received no vitamin supplementation. Results of electroencephalography (EEG) indicated modified hypsarrhythmia and the patient was diagnosed as having West syndrome. Synthetic adrenocorticotropic hormone was administered and although her spasms had resolved, the patient remained apathic and could not sit without assistance. EEG results indicated generalized slow activity. After she was diagnosed as having vitamin B12 deficiency, parenteral treatment with vitamin B12 was initiated. Her symptoms resolved and EEG was completely normal. When she was 20 months old she exhibited an age‐appropriate developmental and neurological profile. To our knowledge, this is the first report of West syndrome as a presenting symptom of vitamin B12 deficiency.
Tokel K, Gümüş A, Ayabakan C, Varan B, Erdoğan İ. Complications of cardiac catheterization in children with congenital heart disease. Turk J Pediatr 2018; 60: 675-683.Catheterization procedures for congenital heart disease include a broad range of procedures with a large spectrum of potential adverse outcomes. We aimed to determine the incidence of various complications during pediatric cardiac catheterizations and to designate the relative risk factors for such complications.All pediatric patients undergoing cardiac catheterizations between January 2005-December 2010 were included. Data are collected prospectively by filling out computerized catheterization reports. Patient records were scanned for potential risk factors retrospectively. Groups were divided based on cardiac diagnosis; type of procedure. Adverse events were categorized into major or minor events. A total of 2662 cardiac catheterizations were performed during this period. The mean age of patients was 53.2±64.3 months. Diagnostic catheterizations were done for 1797 (67.5%) patients, and interventional procedures were done in 865 (32.5%) cases. Adverse events were observed in 688 patients (26%) during 941 procedures. Minor and major events were seen in 21.4% and 7.1% of the procedures respectively. Most frequent major complications were anesthesia related (6%), most frequent minor complications were vascular complications (45.2%). Complications were more frequent in younger patients (p=0.0001), during interventional procedures (p=0.0001). Thirteen patients died after a cardiac catheterization; they were younger and had longer procedures compared to those who survived (p=0.0001). Vascular complications were frequent among younger patients, with prolonged procedure time and vessel access (p<0.0001). Cyanotic patients had more complications (p<0.05; OR for major and minor complications: 3.5 and 2 respectively). Minor complications were 2.7 times more likely in ventricular outflow obstructions (p<0.05).The complication rates of cardiac catheterization in children are low, but not negligible. Defining risk factors will help anticipate adverse events, which will guide in preparation for rescue procedures and improvement of patient safety systems in catheterization laboratories.
Cerebral venous angioma is a congenital anomaly of the medullary vein, the vessel that drains into the transparenchymal venous stem. This lesion is also referred to as a developmental venous anomaly. A few reports in the literature have documented developmental venous anomaly-related epilepsy, neurologic deficits, and intracranial hemorrhage. A 3-year-old boy was referred to our hospital after he sustained an afebrile, tonic-clonic, focal seizure of 15 minutes' duration that affected his right arm, leg, and eyebrow. Cerebral digital subtraction angiography showed a bilateral, large periventricular developmental venous anomaly. This report describes the clinical and radiologic findings for this large venous angioma that caused seizures in a child.
Background and Objectives. Right ventricular failure is an important cause of mortality and morbidity after orthotopic heart transplantation (OHT). The right ventricle of the donor may fail to accommodate to the high pulmonary vascular resistance (PVR) of the recipient. Pulmonary hypertension (PH) due to chronic heart failure with PVRi > 4 Wood units.m2, transpulmonary gradient > 15 mmHg adversely affect the outcome of OHT. In this study we aimed to evaluate management strategies in our pediatric cardiac transplantation candidates with PH and high PVR prior to OHT. Method. Twenty-six cardiac transplantation candidates (age: 10.2 ± 4.6, 1-17 years) underwent cardiac catheterization for the determination of PVR and pulmonary arterial pressure. They were admitted to the hospital and received 1-3 days of intravenous (IV) vasodilator therapy; 0.5-3 μg/kg/min nitroglyserin and/or 0.5-3 μg/kg/min nitroprusside, 5-15 μg/kg/min dobutamin and/or dopamin to keep systolic blood pressure above 80 mmHg. Results. Thirteen patients had dilated cardiomyopathy (CMP), 11 had restrictive CMP, one had hypertrophic CMP and one had congenital heart disease (CHD). Nineteen of the 26 patients underwent OHT. Mean pulmonary arterial pressure of the patients ranged between 11 and 82 mmHg (30.4 ± 16 mmHg) and PVRi between 0.41-21.4 Wood units.m2 (5.3 ± 5.7). Nine patients had PVRi above 4 Wood units.m < sup > 2 < /sup > . Six of these patients had IV treatment for longer than three days and some received specific anti-PH treatment. Eventually they underwent a pulmonary vasoreactivity test with IV iloprost and six had PVRi < 4 Wood units.m < sup > 2 < /sup > . Five of them underwent OHT. Conclusion. Cardiac transplantation candidates with PH and high PVR should be evaluated after conditioning with vasodilator and inotropic treatment. Specific treatment for PH and vasoreactivity testing may help selected patients reenter the transplantation list.
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