RESUMEN
A child with 11, beta-hydroxylase deficiency, an unusual variant of congenital adrenal hyperplasia, presented with dilated cardiomyopathy. Congestive heart failure and dilatation of ventricles resolved with hydrocortisone replacement therapy. This case highlights the importance of complete history and physical examination of children with dilated cardiomyopathy.
Asunto(s)
Hiperplasia Suprarrenal Congénita/complicaciones , Cardiomiopatía Dilatada/etiología , Hiperplasia Suprarrenal Congénita/tratamiento farmacológico , Hiperplasia Suprarrenal Congénita/enzimología , Antiinflamatorios/uso terapéutico , Cardiomiopatía Dilatada/tratamiento farmacológico , Preescolar , Humanos , Hidrocortisona/uso terapéutico , Masculino , Esteroide 11-beta-Hidroxilasa/metabolismoRESUMEN
Between 1983 and 1995, 546 Blalock-Taussig shunt procedures were performed in 472 patients: 128 (23.0%) were classical shunts, 90 of them on the same side as to the aortic arch, and 418 (77.0%) were modified shunts, 182 on the same side of the arch. At the time of surgery, 78 patients were aged below one week, 270 from one week to 12 months, and 198 patients were over one year of age. The mean pre-operative arterial saturation (71.7% +/- 16.5%) was significantly increased to 83% +/- 17.9% immediately after the procedure (p=0.017). The overall hospital mortality rate was 2.9% (16/546), with rates of 2.3% (3/128) for the classical, and 3.1% (13/418) for the modified shunts (p=not significant). The rate was significantly higher, however, for classical shunts when the pulmonary arterial diameter was less than 4 mm (15.4% versus zero; p=0.047), though this relationship was reversed for modified shunts (zero versus 3.6%; p=0.338). Early mortality was significantly influenced by the age at surgery, 5/78 (6.4%) in patients aged below 1 week, 3.7% between 1 week and 1 year, and 0.5% over 1 year (p=0.019). Early mortality was also significantly increased in patients weighing 3kg or less, 8/156 (5.1%), versus 3/303 (1.0%), p=0.037. Overall, 51 shunts failed (9.3%), 10 early and 41 late. Early failure was significantly increased in patients weighing 3kg or less, 8/156 (5.1%) versus 3/303 (1.0%), p=0.016. The overall early failure rate was 1.4% (3/215) when heparin was administered intra-operatively and for 48 hours postoperatively, in contrast to an early failure rate of 3.4% (7/203) when heparin was not used (p=0.294). Overall rates of failure during follow-up were 9.1% (17/188) in heparinized patients versus 13.6% (24/177), (p=0.173) in non-heparinized patients. Failure of classical shunts was 10.2% (13/128), compared with 6.7% (28/418) for modified shunts (p=0.195). Failure was more common overall if the pulmonary arterial diameter was less than 4 mm, 14.7% (9/61), as opposed to 8.7% (26/300) when the diameter was 4 mm or greater, (p=0.144). Administration of aspirin during follow-up after the modified shunt procedure reduced failure from 11% (18/163) to 6.7% (10/150), p=0.176. Classical or modified Blalock-Taussig shunts, either on the same side or opposite to the aortic arch, can be performed on patients of any age with minimum postoperative complications and low operative mortality. The use of intra- and post-operative heparin appears to reduce the overall rate of failure, and the administration of aspirin during follow-up appears to reduce failure of modified Blalock-Taussig shunts.
Asunto(s)
Procedimientos Quirúrgicos Cardíacos , Cardiopatías Congénitas/mortalidad , Cardiopatías Congénitas/cirugía , Anticoagulantes/uso terapéutico , Procedimientos Quirúrgicos Cardíacos/mortalidad , Femenino , Heparina/uso terapéutico , Mortalidad Hospitalaria , Humanos , Lactante , Recién Nacido , Masculino , Estudios Retrospectivos , Análisis de Supervivencia , Insuficiencia del TratamientoRESUMEN
Three children aged 11 months, and eight and nine years were supported with a Hemopump as a potentially life saving measure for circulatory failure. Left ventricular assist time ranged from 10 to 32 h. None of the three patients could be successfully weaned from the device because of complications of bleeding, arrhythmia or neurological insult. Despite poor outcomes, each patient demonstrated important hemodynamic stabilization with the device. The Hemopump is suggested as a potentially life saving treatment modality for selected pediatric patients who have critical left ventricular failure.
Asunto(s)
Corazón Auxiliar , Disfunción Ventricular Izquierda/terapia , Canadá , Niño , Femenino , Humanos , Lactante , Radiografía Torácica , Disfunción Ventricular Izquierda/diagnóstico por imagenRESUMEN
Six patients (4 boys and 2 girls) with hemiconvulsion-hemiplegia-epilepsy (HHE) syndrome are described. They had prolonged seizures, lasting from 30 min to 12 h, at ages 1-4 years. These took the form of hemiconvulsion in three of the children and generalized tonic-clonic seizures in the others, being preceded by hemifacial twitching or head and eye deviation in two. They were followed by hemiplegia, which cleared with time in five patients, apart from subtle pyramidal tract signs. One child had spastic quadriparesis, choreiform movements, contracture deformities and severe mental retardation following repeated status epilepticus. Subsequent epilepsy developed in five patients and was satisfactorily controlled with carbamazepine and/or phenobarbitone. Cerebral hemiatrophy was documented in all patients by cranial computed tomography and/or magnetic resonance imaging. Single photon emission computed tomography (done in 4 patients) showed ipsilateral hypoperfusion (of the damaged hemisphere). Electroencephalography showed ipsilateral slowing and low voltage of background activity. Epileptiform discharges were found on the ipsilateral side in two cases and the contralateral side (the undamaged hemisphere) in one.
Asunto(s)
Dominancia Cerebral/fisiología , Electroencefalografía , Epilepsia Tónico-Clónica/fisiopatología , Hemiplejía/fisiopatología , Imagen por Resonancia Magnética , Convulsiones/fisiopatología , Tomografía Computarizada de Emisión de Fotón Único , Atrofia , Mapeo Encefálico , Corteza Cerebral/irrigación sanguínea , Corteza Cerebral/patología , Corteza Cerebral/fisiopatología , Niño , Preescolar , Epilepsia Tónico-Clónica/diagnóstico , Femenino , Hemiplejía/diagnóstico , Humanos , Masculino , Examen Neurológico , Flujo Sanguíneo Regional/fisiología , Convulsiones/diagnósticoRESUMEN
The study describes the pattern of childhood neuromuscular disorders seen in a decade (1982-1992) at King Khalid University Hospital, Riyadh, Saudi Arabia. Similar data are scanty outside Europe and North America, and lacking in Saudi Arabia. Eighty-four children (< or = 16 years) were assigned to an entity of neuromuscular disease following review of the clinical, biochemical and neurophysiological data, and after re-examination of the histological and histochemical features of the muscle biopsies. Of the 84 ascertained cases, 40 (48%) had different forms of muscular dystrophy (MD), 26 (31%) had one of the various types of spinal muscular atrophy (SMA) and two (2.4%) hereditary motor and sensory neuropathy type I. The rest were miscellaneous cases including one (1.2%) with dermatomyositis. Of the dystrophies, severe childhood autosomal recessive muscular dystrophy (SCARMD) was more prevalent (30%) than Duchenne type (25%), conforming with observations from North African countries known to have a high incidence of consanguineous marriages. Family history of other cases of SCARMD included three males and three females, one of whom died at 15 years, and consanguinity was evident in 63%. Congenital MD, inherited in an autosomal recessive pattern, was also common (30%). A history of consanguinity was present in 55%. Of the 26 cases of SMA, type I (Werdnig-Hoffman disease) was the most prevalent (69%). Consanguinity was ascertained in 65% of SMA families and histories revealed another 14 affected siblings. Autosomal recessive forms seem to constitute the bulk of neuromuscular disorders in Saudi Arabia.