ABSTRACT
Neurocutaneous syndromes [NCS] are a broad term for a group of neurologic disorders that involve the nervous system and the skin. The most common examples are neu-rofibromatosis type 1 [NF-1] and type 2 [NF-2], tuberous sclerosis [TS], Sturge-Weber syndrome [SWS], ataxia telangiectasia [AT], and Von Hippel Lindau disease [VHL]. These disorders are characterized clinically by neurological manifestations such as convulsions, mental retardation and learning disabilities in addition to cutaneous manifestations, and lastly tubers [benign growths found in different organs of the body]. This study aimed to identify clinical, imaging, and neurophysiological profiles of neurocutaneous disorders. Children presented to the Pediatric neurology and Dermatology clinics, Sohag University Hospital who fulfilled the criteria for diagnosis of specific neurocutaneous syndromes were eligible for this study. All studied patients were subjected to thorough clinical history, full clinical examination, developmental assessment, and dermatological examination. Computed tomography of the brain [CT] and electroencephalography [EEG], ophthalmic, and phoniatric evaluation were also done for all children. Echocardiography was done for only twenty children. During the period of the study we diagnosed 27 cases with neurocutaneous disorders, tuberous sclerosis represented the majority of cases as it was detected in 12 cases [44.45%]. The main complaint was convulsions in 19 cases [70.37%], whereas skin pigmentation was detected in 18 cases [66.66%]. Developmental assessment showed that global developmental delay was found in 20 cases [74%]. CT of the brain showed that 15 cases [55.55%] had intracranial calcifications and abnormal EEG findings were detected in 23 cases [85.2%]. 85% of the studied children had various degrees of mental retardation. Echocardiography showed that three cases [15%] had ventricular wall tumor mostly rhabdomyoma Neurocutaneous disorders had multiple clinical presentations and required a team work approach including various specialties in their evaluation and management
ABSTRACT
Persistent pulmonary hypertension of the newborn [PPHN] is characterized by severe hypoxemia shortly after birth, absence of cyanotic congenital heart disease, marked pulmonary hypertension, and vasoreactivity with extra pulmonary right-to-left shunting of blood across the ductus arteriosus and/or foramen ovale[1]. This observational prospective study was conducted in the Neonatal Intensive Care Units of Sohag and Assiut University Hospital, Upper Egypt aiming to assess the magnitude of problem, risk factors, clinical profile, therapeutic modalities and outcome of PPHN. Newborn infants eligible for inclusion were: 1]>37 weeks gestation, 2] absence of structural congenital heart diseases 3] admitted in the neonatal intensive care unit between June 1, 2008 and 30 June 2010; Exclusion criteria were:1] congenital structural heart disease, 2] cardiac arrest or terminal disease. We considered PPHN when persistent hypoxemia [PaO2] of<50mmHg, discrepancy in the pre-and post-ductal saturations; a PaO2 difference of at least 20 mmHg or Pulse oximetry with Preductal SaO2 exceeds post-ductal by 25%. Echocardiography demonstrates absence of congenital heart diseases and presence of right to left shunts through patent foramen ovale and/or patent ductus arteriosus. A consent from parents had been taken. Factors that were independently associated with an elevated risk for PPHN were: male gender, cesarean section, maternal diseases [diabetes mellifus, hypertension, anemia], those who were born>37 weeks, birth weight above the 90th percentile, meconium aspiration, birth asphyxia, hyaline membrane disease, neonatal pneumonias and infant of diabetic mother [1DM]. Respiratory distress, cyanosis, fachycardia, and hypotension were the main clinical presentations. These neonates were treated with the use of oxygen therapy, magnesium sulphate infusion; oral sildenafil and mechanical ventilation. The response to vasodilator agents were satisfactory. After 6 months follow up of these neonates we found that, 24 [44.4%] improved without sequale, 10[18.5%] developed neuron-developmental impairment, 4 [7.4%] missed follow up and 4 [7.4%] developed chronic lung diseases and 12 [22.2%] expired due to severe sequele of birth asphyxia, myocardial failure, neonatal septicemia and massive air leak syndrome. Due to wide range of maternal and fetal risk factors for PPHN, there should be a good cooperation between obstetricians and neonatologists for early detection, rapid diagnosis and to combat these risk factors. Magnesium sulphate and oral sildenafil are non aggressive treatment of short duration, effective and low cost. The study recommended the use of these drugs as an alternative treatment when other treatment modalities are not available. In addition, a controlled, multi center study with an adequately large sample size is needed to evaluate the safety, efficacy, and long-term outcome after treatment with these agents. Also the study recommended that those infants should be monitored closely for the first 2 years of life, preferably in a specialty follow-up clinic, for developmental follow-up care