ABSTRACT
Citrullinemia is a rare inborn error of metabolism of the urea cycle, and was first reported by McMurray, et al. in 1962. It is inherited as an autosomal recessive trait. The normal synthesis of argininosuccinic acid is blocked in this disease due to a deficiency of argininosuccinic acid synthetase(AS), which has been demonstrated in liver cells and fibroblasts. The clinical symptoms are vomiting, lethargy or irritability, convulsion and mental retardation. The diagnosis is made by the finding of an increased plasma citrulline level. Every effort should be made to reduce the blood ammonia level as rapidly as possible before irreversible brain damage occurs. This report describes a case of citrullinemia that was diagnosed through organic acid analysis and amino acid analysis, and reviews the related literatures.
Subject(s)
Ammonia , Argininosuccinic Acid , Brain , Citrulline , Citrullinemia , Diagnosis , Fibroblasts , Intellectual Disability , Lethargy , Liver , Metabolism , Plasma , Seizures , Urea , VomitingABSTRACT
Neuromyelitis optica (Devic disease) is a rare demyelinating disorder of unknown etiology in which unilateral or bilateral optic neuritis and transverse myelitis occur within 8 weeks. The disease has no clinical involvement beyond the spinal cord or optic nerves. This illness occurs more commonly in adults than in children. The prognosis is better in children than in adults. The authors experienced a case of neuromyelitis optica (Devic disease) in a 5-year-old female who developed acute visual loss of the left eye, paraplegia, sensory change above the 4th thoracic dermatome, nuchal rigidity and fever. We diagnosed this case through neurologic features, magnetic resonance imaging, ophthalmoscopy and cerebrospinal fluid findings. The patient improved with conservative treatment without sequelae.
Subject(s)
Adult , Child , Child, Preschool , Female , Humans , Cerebrospinal Fluid , Demyelinating Diseases , Fever , Magnetic Resonance Imaging , Muscle Rigidity , Myelitis, Transverse , Neuromyelitis Optica , Ophthalmoscopy , Optic Nerve , Optic Neuritis , Paraplegia , Prognosis , Spinal CordABSTRACT
Amebiasis is an infectious disease caused by Entameba histolytica. Amebiasis remains an extremely important consideration in the differential diagnosis of diarrhea, especially when there is associated bleeding. It is imperative that appropriate studies to establish or exclude the diagnosis of amebiasis be carried out in all patients who present with a clinical and sigmoidoscopic picture of colitis, and that patients treated with metronidazole for amebiasis have adequate clinical and parasitological follow-up. We have experienced one case of intestinal amebiasis with protein losing enteropathy in 30month-old boy whose chief complaint was mild fever, vomiting and blood tinged diarrhea. His laboratory findings were compatible with protein losing enteropathy. The diagnosis of amebiasis is confirmed by observation of trophozoite of E. histolytica in the stools. A brief review with related literatures is also presented.