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64 Possible Causes for Cortical Dysplasia, Urine Organic Acids Abnormal

  • West Syndrome

    Urine organic acids, amino acids and serum biotinidase are done. CT or MRI scan of the brain is done before the treatment is started.[] The underlying etiology consisted of lissencephaly, Down's syndrome, and focal cortical dysplasia .[] […] encephalopathy, and cortical dysplasia.[]

  • Cutis Marmorata

    […] of organic acids in the urine) and the karyotype is in progress.[] Cerebral alterations determined by MRI were bilateral prominent lateral ventricles, bilateral cortical dysplasia, cavum septi pellucidum cyst and calvarial hemangioma.[] The first had bilateral cortical dysplasia with frontal bilateral myelinization defect of corona radiata.[]

  • High Myopia-Sensorineural Deafness Syndrome

    Neurometabolic tests Consider if globally developmentally delayed or neurologically abnormal Urine MPS, amino acids, organic acids, pyruvate/lactate, ammonia, CSF lactate[] […] plastica Intermittent hydrarthrosis Lennox-Gastaut syndrome Pilomatrixoma TRAPS syndrome Zonular cataract Familial atrial fibrillation Tetralogy of Fallot Isolated focal cortical[] […] metatarsal type Cone-rod dystrophy X-linked 3 Spondyloepimetaphyseal dysplasia X-linked Focal cortical dysplasia of Taylor Simpson-Golabi-Behmel syndrome KID syndrome Limb-girdle[]

  • Congenital Myopathy with Excess of Thin Filaments

    , urine organic acids.[] […] lupus erythematosus Chronic myeloid leukemia Chronic myelomonocytic leukemia Common variable immunodeficiency Congenital mesoblastic nephroma Fibrosarcoma Isolated focal cortical[] […] serum lactate:pyruvate ratio, forearm exercise test, total carnitine profile, serum acylcarnitine profile (interictal) and if possible (ictal), plasma amino-acids, uric acid[]

  • Spastic Ataxia with Congenital Miosis

    They can be screened by using X-ray for epiphyseal stippling, testing for abnormalities of very long-chain fatty acids (VLCFAs), and urine screening for organic acids.[] dysplasia Isolated focal cortical dysplasia type I Isolated focal cortical dysplasia type II Ito hypomelanosis Jeavons syndrome Joubert syndrome Joubert syndrome and related[] Brain MRI at age 5 months showed mildly dilated and disfigured lateral ventricles, focal cortical dysplasia, and diffusely delayed myelination.[]

  • Autosomal Dominant Prognathism

    Renal pathology is characterized by an abnormal loss of certain substances into the urine, including bicarbonate, sodium, potassium, amino acids, organic acids, albumin and[] Heterotopia Narrow palate Bicuspid aortic valve Sacral dimple Aortic aneurysm Widely spaced teeth Elbow dislocation Phimosis Sparse eyebrow Pear-shaped nose Vertebral fusion Cortical[] This phenotype does not match any other previously described diaphyseal hyperplasia or sclerotic dysplasia such as osteopetrosis ( 3 ), progressive diaphyseal dysplasia or[]

  • Polyglucosan Body Myopathy Type 2

    The abnormal organic acid in each case is determined by analysis of blood and urine; identification of the specific enzyme deficiency requires tissue analysis ( 71, 72 ).[] […] of jaw Fibular hypoplasia and complex brachydactyly Focal cortical dysplasia of Taylor Foveal hypoplasia and presenile cataract syndrome Frasier syndrome Friedreich's ataxia[] , urine organic acids.[]

  • Secondary Myopathy

    The abnormal organic acid in each case is determined by analysis of blood and urine; identification of the specific enzyme deficiency requires tissue analysis ( 71, 72 ).[] The ocular malformations include microphthalmia, colobomas, cataracts, glaucoma, corneal opacity, retinal dysplasia, and optic atrophy.[] , urine organic acids.[]

  • Autosomal Recessive Isolated Optic Atrophy

    We performed biochemical and genetic investigations, including urine organic acid analysis, NMR spectroscopy , measurement of 3-methylglutaconyl-CoA hydratase activity, cardiolipin[] dysplasia and heterotopia, history of meningitis or encephalitis, pial angiomatosis, and porencephalic lesions; a few may have unrecognized MELAS syndrome.[] Associated optic disc dysplasia, microphthalmia, cortical dysgenesis, mental retardation, and epilepsy may be seen. [18] Hereditary optic neuropathies include dominant optic[]

  • Hawkinsinuria

    Abnormally high levels of organic acids in the blood (organic acidemia), urine (organic aciduria), the brain, and other tissues lead to general metabolic acidosis.[] dysplasia (such as hemimegalencephaly, focal cortical dysplasia and polymicrogyria).[] The signs and symptoms may include the following: failure to gain weight and grow at the expected rate (failure to thrive), abnormally high acid levels in the blood (acidosis[]

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