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
Phenylketonuria [PKU] is an autosomal recessive metabolic genetic disorder characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase [PAH]. The disease may present clinically with seizures, albinism [excessively fair hair and skin], and a "musty odor" to the baby's sweat and urine. In the untreated classic case, mental retardation is severe, precluding speech and toilet training. Seizures are common in the more severely retarded, usually start before 18 months of age. This study aimed to identify clinical profile and impacts of newly diagnosed [untreated] PKU on children. Children presented to the Pediatric Department, or Pediatric Neurology Clinic, Sohag University Hospital in whom the diagnosis of Pheylketonuria was established based on measuring phenylalanine level in blood samples were eligible for this study. All studied patients were subjected to thorough history, full examination, and developmental assessment. Electroencephalography [EEG], computed tomography of the brain [CT], phoniatric and audiologic evaluations were also done. During the period of the study we diagnosed 24 cases with phenylketonuria, the main clinical presentations were global developmental delay, hyperactive symptoms, seizures, and autistic features. CT of the brain showed that 58.3% of cases had atrophic changes. EEG showed that 58.3% of cases had abnormal findings as generalized epileptic discharges, focal epileptic discharges, and hypsarrhythmia. We concluded that untreated phenylketonuria still represents a significant burden on children development and mental function in Upper Egypt. So we recommend establishment of national screening programs and pushing it forward as well as immediate development of specific metabolic centers in various universities and research institutes