1/23. Cerebral malformation associated with metabolic disorder. A report of 2 cases.A clinical and neuropathological study is presented of two cases each of which showed neuronal heterotopia. Microgyria was also present in one case. One patient was suffering from a degenerative disorder affecting the white matter. The other was a case of Menkes' disease. It is suggested that the antenatal damage may have been caused by an imbalance of the maternal metabolism, the predisposing factor being the mother's carrier state for a metabolic defect. This is the first report of teratogenesis in a case of Menkes' disease. It is also noted that in this case there is interference with the postnatal as well as the antenatal development of the brain.- - - - - - - - - - ranking = 1keywords = metabolic disorder, brain (Clic here for more details about this article) |
2/23. Sequence variations in the flavin-containing mono-oxygenase 3 gene (FMO3) in fish odour syndrome.Trimethylaminuria is inherited recessively as a defect in hepatic N-oxidation of dietary derived trimethylamine (TMA) which causes excess excretion of TMA so that affected individuals have a body odour resembling rotten fish. Flavin-containing mono-oxygenase 3 (FMO3) catalyses TMA oxidation and mutations in the FMO3 gene have recently been shown to underlie trimethylaminuria/fish odour syndrome. We searched for FMO3 mutations in a previously unreported individual with this disorder using polymerase chain reaction of genomic dna, heteroduplex analysis and direct sequencing of heteroduplex band shifts. We identified a heterozygous missense Pro153-->Leu153 mutation in exon 4. Leu153 has been reported previously as a homozygous mutation in two unrelated siblings with trimethylaminuria and has been shown to result in total loss of FMO3 enzyme activity. In our patient, two further missense mutations were identified on the other FMO3 allele, Val143-->Glu143 and Glu158-->Lys158. Lys158 is known to be a common polymorphism, but has functional significance in reducing enzyme activity by 10%. Glu143 has not been documented previously, but was shown to be a rare polymorphism and may be of further relevance in reducing FMO3 activity. mutagenesis studies and enzyme assays will be necessary to confirm or refute the potential pathogenic significance of Glu143 in this patient, but the mutation Pro153-->Leu153 appears to be a recurrent cause of this distressing metabolic disorder.- - - - - - - - - - ranking = 0.24999798492124keywords = metabolic disorder (Clic here for more details about this article) |
3/23. The optimal approach to the patient with oxalosis.There are many challenges in oxalosis, including prompt, clinical recognition of this inborn error of metabolism, management of its many medical problems, provision of adequate care at end-stage kidney disease, and optimizing both the timing and results of liver and kidney allografts. This review provides a framework for the interested clinician to understand the many problems, and to begin to assimilate knowledge about an increasingly recognized, metabolic disorder. It ends with potential, innovative therapies that are not yet at the patient's bedside.- - - - - - - - - - ranking = 0.24999798492124keywords = metabolic disorder (Clic here for more details about this article) |
4/23. Systemic adenosine infusions alleviated neuropathic pain.A 15-year-old boy suffering from a degenerative neurometabolic disorder was treated in a palliative home care unit. Opioid administered by continuous intravenous infusion gave excellent relief from headache, muscle pain and pain from renal calculi. He continued to complain of burning pain in response to tactile stimuli. A prior quantitative sensory test had shown changes in sensation. Intravenous adenosine (ADO) infusions were given weekly. After 5 weeks of infusions, there was no recurrence of pain between treatments. ADO infusions were continued for 7 months without any side effects or signs of tolerance to the drug. There are indications that ADO may play a role as a modulator of neuropathic and nociceptive pain. In this case with pronounced allodynia, our interpretation is that neuropathic mechanisms were responsible and that ADO infusions played an important role in controlling pain.- - - - - - - - - - ranking = 0.24999798492124keywords = metabolic disorder (Clic here for more details about this article) |
5/23. Inherited metabolic disorders in thailand.The study of inborn errors of metabolism (IEM) in thailand is in its infancy. The majority are clinically diagnosed since there are only a handful of clinicians and scientists with expertise in inherited metabolic disorders, shortage of well-equipped laboratory facilities and lack of governmental financial support. Genetic metabolic disorders are usually not considered a priority due to prevalence of infectious diseases and congenital infections. From a retrospective study at the Medical genetics Unit, Department of pediatrics, Siriraj Hospital; estimated pediatrics patients with suspected IEM were approximately 2-3 per cent of the total pediatric admissions of over 5,000 annually. After more than 10 years of research and accumulated clinical experiences, a genetic metabolic center is being established in collaboration with expert laboratories both in Bangkok (Chulabhorn research Institute) and abroad (japan and the united states). Numerous inherited metabolic disorders were identified--carbohydrate, amino acids, organic acids, mitochondrial fatty acid oxidation, peroxisomal, mucopolysaccharidoses etc. This report includes the establishment of genetic metabolic center in thailand, research and pilot studies in newborn screening in thailand and a multicenter study from 5 institutions (Children's National Center, King Chulalongkorn Memorial Hospital, Pramongkutklao Hospital, Ramathibodi and Siriraj hospitals). Inherited metabolic disorders reported are fructose-1,6-bisphosphatase deficiency, phenylketonuria, homocystinuria, nonketotic hyperglycinemia, urea cycle defect (arginino succinate lyase deficiency, argininosuccinate synthetase deficiency), Menkes disease, propionic acidemia and mucopolysaccharidoses (Hurler, Hurler-Scheie).- - - - - - - - - - ranking = 1.9999838793699keywords = metabolic disorder (Clic here for more details about this article) |
6/23. Bilateral simultaneous facial paralysis--differential diagnosis and treatment options. A case report and review of literature.Bilateral facial paralysis or paresis of peripheral origin is a rare condition and therefore represents a diagnostic challenge. We here present a case of a previously healthy woman who was hospitalized for symptoms of meningitis. On the second day of her hospital stay, she developed bilateral facial paresis. Later, the patient developed also tachycardia and dysrhythmias. A thorough diagnostic procedure including lumbar puncture, routine blood investigation with serological tests, MRI of the brain, Holter monitoring and transoesophageal echocardiographia, revealed meningitis with radiculitis, facial paresis and myocarditis. The clinical triad of meningitis, radiculitis and facial palsy is known as the Bannwarth syndrome (lyme disease). The patient was treated with ceftriaxone and recovered well. Despite repeatedly taken serological tests, borrelia burgdorferi immunoglobulins were not detected. Acquired bilateral facial paralysis can occur in several diseases of infectious, neurological, idiopathic, iatrogenic, toxic, neoplastic or traumatic origin. In this article, we review the differential diagnoses and treatment options of bilateral facial paresis and present a scheme that is helpful in the diagnostic evaluation of this condition.- - - - - - - - - - ranking = 8.0603150367729E-6keywords = brain (Clic here for more details about this article) |
7/23. Neonatal identification of pituitary aplasia: a life-saving diagnosis. review of five cases.BACKGROUND: Neonatal onset hypopituitarism is a life-threatening, potentially treatable endocrine disease. A possible cause is congenital absence of the anterior pituitary gland, a condition very rarely reported in the literature. methods: A series of 5 cases of children with pituitary aplasia referred to the Centre of Paediatric endocrinology 'Rina Balducci', Tor Vergata University, Rome, is presented. RESULTS: Major clinical features in our patients were respiratory distress on the first day of life, in spite of uneventful pregnancy, labour and delivery, metabolic acidosis, non-cholestatic jaundice, hypotonia, severe hypoglycaemia, hypogenitalism, and midline defects. diagnosis was established by endocrine tests during hypoglycaemia and hypothalamic-pituitary MRI scan. Symptoms disappeared soon after replacement therapy was started. CONCLUSION: We stress the importance of performing baseline endocrine tests as soon as possible during hypoglycaemia and MRI of the brain aimed at visualizing the hypothalamic-pituitary area in neonates with hypogenitalism and severe unexplained hypoglycaemia, so that the irreversible neurological and developmental consequences of panhypopituitarism can be prevented by adequate replacement therapy.- - - - - - - - - - ranking = 8.0603150367729E-6keywords = brain (Clic here for more details about this article) |
8/23. Metabolic stroke in three years old boy as the consequence of metabolic derangement. A case report of recidiving Reye's-like syndrome.Three years old boy with developmental renal dysplasia was hit as newborn child by attack of cerebral edema with metabolic disturbances (hypoglycemia, hypophosphatemia, ketoacidosis and with hypocoagulation state) and was classified as child at risk in the pediatric evidence. In the third year of the age he went through nephrectomy and after the operation, the similar metabolic disturbances occurred (hypoglycemia, ketoacidosis, derangement of the metabolic situation). Cerebral edema and the metabolic stroke developed. Reye's-like syndrome was considered and serious functional disturbances of basal ganglia and brain-stem structure were observed.- - - - - - - - - - ranking = 8.0603150367729E-6keywords = brain (Clic here for more details about this article) |
9/23. Possible association between acetazolamide administration during pregnancy and metabolic disorders in the newborn.Development of metabolic acidosis, hypocalcemia and hypomagnesemia in a preterm infant whose mother was treated with acetazolamide throughout pregnancy is described. These neonatal metabolic alterations possibly related to acetazolamide administration in pregnancy have not been previously described in the literature. The metabolic acidosis was transient and resolved spontaneously despite breast feeding and continued administration of acetazolamide to the mother. hypocalcemia and hypomagnesemia resolved quickly with appropriate treatment with calcium gluconate and magnesium sulphate, respectively. At follow-up at ages 1, 3 and 8 months, the baby showed mild hypertonicity of the lower limbs requiring physiotherapy.- - - - - - - - - - ranking = 0.99999193968496keywords = metabolic disorder (Clic here for more details about this article) |
10/23. A new type of neuronal cytoplasmic inclusion: histological, ultrastructural, and immunocytochemical studies.A novel type of non-viral cytoplasmic inclusion is described, which was seen in virtually every neuron in the brain and spinal cord of a child with a presumed metabolic disorder whose clinical picture and CNS pathology were compatible with Leigh syndrome. The ovoid to round inclusions were sharply demarcated, measuring up to 11 microns in diameter. They showed no distinctive staining with a battery of routine histological techniques. The ultrastructural features are unique, comprising non-membrane-bounded aggregates of randomly oriented plate-like structures with parallel linear densities depicting a periodicity of 11-16 nm. Immunocytochemical studies revealed strong staining with antisera to tropomyosin and weaker staining with antisera to actin. There was no reactivity with antibodies against neurofilaments, microtubules and their associated proteins, paired helical filaments, ubiquitin, vinculin or alpha-actinin. It is postulated that the metabolic disorder resulted in a neurodegenerative condition which manifested pathologically with lesions compatible with those of Leigh syndrome. Associated with the condition was the discrete accumulation of cytoplasmic proteinaceous components, including tropomyosin, in the form of neuronal cytoplasmic inclusions possibly resulting from an alteration of the neuronal cytoskeleton.- - - - - - - - - - ranking = 0.50000403015752keywords = metabolic disorder, brain (Clic here for more details about this article) |
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