cerebral atrophy

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cerebral atrophy

Associated Diseases	Laboratory Findings	Clinical Symptoms
2-METHYL-3-HYDROXYBUTYRYL-CoA DEHYDROGENASE DEFICIENCY MIM:300438 3-HYDROXY-3-METHYLGLUTARYL-CoA LYASE DEFICIENCY MIM:246450 ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE I: SCHINDLER DISEASE MIM:104170 ARGININEMIA. HYPERARGININEMIA, ARGINASE DEFICIENCY MIM:207800 AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY MIM:107930 BETA-MANNOSIDOSIS MIM:248510 BIOTINIDASE DEFICIENCY MIM:253260 CONGENITAL DISORDER OF GLYCOSYLATION CDG-If MIM:604041 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIc MIM:266265 CONGENITAL DISORDER OF GLYCOSYLATION CDG-IIg MIM:611209 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Ik MIM:608540 CONGENITAL DISORDER OF GLYCOSYLATION CDG-Il MIM:608776 CYSTINOSIS MIM:219750 FUMARIC ACIDURIA MIM:136850 G(M1)-GANGLIOSIDOSIS, TYPE 1. PSEUDO-HURLER-DISEASE MIM:230500 G(M1)-GANGLIOSIDOSIS, TYPE 2. LIPIDOSIS, LATE INFANTILE SYSTEMIC MIM:230600 HOMOCYSTINURIA-MEGALOBLASTIC ANEMIA DUE TO DEFECT IN COBALAMIN METABOLISM, cblG COMPLEMENTATION TYPE MIM:250940 KRABBE DISEASE MIM:245200 METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, cblD TYPE MIM:277410 MOLYBDENIUM CO-FACTOR DEFICIENCY MIM:252150 NEURONAL CEROID LIPOFUSCINOSIS. KUF'S DISEASE. BATTEN DISEASE. JANSKY-BIELSCHOWSKY. SPIELMEYER-VOGT. HALTIA-SANTAVUORI MIM:256730 OCULOCEREBRORENAL SYNDROME OF LOWE MIM:309000 PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY 1 (PEPCK1) MIM:261680 S-ADENOSYLHOMOCYSTEINE HYDROLASE DEFICIENCY MIM:180960 TYROSINEMIA III MIM:276710	2-Ethylhydracrilic acid 2-Hydroxybutyric acid 2-Methyl-3-hydroxybutyric acid 2-Oxoglutaric acid 3-Hydroxy-3-methylglutaric acid 3-Hydroxy-3-methylglutaryl-CoA lyase 3-Hydroxybutyric acid 3-Hydroxyisovaleric acid 3-Hydroxyisovalerylcarnitine (C5-OH) 3-Hydroxypropionic acid 3-Methoxytyramine 3-Methoxytyrosine 3-Methylcrotonylglycine 3-Methylglutaconic acid 3-Methylglutaric acid 4-Hydroxyphenylacetic acid 4-Hydroxyphenyllactic acid 4-Hydroxyphenylpyruvic acid 5-Hydroxyindolacetic acid 5-Hydroxytryptophan Acylcarnitin urine Adipic acid Adrenaline AEP (auditory evoked potentials) abnormal [-] Albumin alpha-N-Acetylgalactosaminidase Ammonia Antithrombin III (AT III) Arginase Arginine Argininosuccinate Aromatic L-amino acid decarboxylase beta-1 4-mannosyltransferase beta-Galactosidase beta-Mannosidase Carnitine Cholesterol Citrate Coagulopathy/Coagulation factors conjunctival biopsy abnormal Creatine Creatinine kinase Creatinine CT brain abnormalities [-] Cystine Dolichol Dopamine EEG abnormalities [-] EMG abnormalities [-] Foam cells bone marrow Fumaric acid Galactosylceramidase Glucose tolerance impaired Glucose Glycopeptides GM1-ganglioside Guanidinoacetate Homoarginine Homocysteine Homocystine Homovanillic acid Hypoxanthine Ketone bodies L-Dopa Lactate dehydrogenase (LDH) Lactate Lymphocytes vacuoles Methionine Methylcitric acid Methylglutarylcarnitine (C6DC) Methylmalonic acid MRI brain abnormalities [-] MRI brain white matter abnormalities [-] Noradrenaline Oligosaccharides Orotic acid pH Phosphorus inorganic Potassium Protein total serum Protein total spinal fluid S-Adenosylhomocysteine hydrolase S-Adenosylhomocysteine S-Adenosylmethionine S-Sulfocysteine SEP (sensory evoked potentials) abnormal [-] Serum acid phosphatase skin biopsy abnormal Sulfate Sulfite oxidase Taurine Thyroid-stimulating hormone (TSH) Thyroxine (T4) Tiglylglycine Transaminases Transferrin Tyrosine Uracil Urea nitrogen Uric acid VEP (visual evoked potentials) abnormal [-] Xanthine dehydrogenase Xanthine	achalasia alopecia Amino acid, spinal fluid Amino acids, plasma Amino acids, urine anemia angiokeratoma areflexia ataxia behavior, abnormal or bizarre, confusion behavior, hyperactive, restless bleeding tendencies, hemorrhages blindness, visual loss, visual impairment broad forehead (wide) buphthalmus cardiac involvement cardiomegaly cardiomyopathy cataract cerebellar atrophy or hypoplasia cerebral atrophy cherry-red spot on retinal macula cholestasis chorea or athetosis coma conjunctivitis constipation contractures, joints corneal clouding corneal deposits corpus callosum, agenesis/hypoplasia costovertebral abnormalities cryptorchism decreased muscle volume, atrophy or hypoplasia defect of deep tendon reflexes dehydration dementia diarrhea dislocated lens (ectopia lentis) dysarthria dysmorphism dystonia early death eczematoid skin rush encephalopathy enophthalmus eye movements, abnormal failure to thrive Fanconi syndrome fatigue, severe or unusual feeding difficulties feeding difficulties, poor feeding fetal akinesia/hypokinesia sequence fever flattened nose frontal bossing gingiva, hyperplastic glaucoma glucosuria growth retardation hair loss hair, abnormal (thin, brittle) hearing defect, deafness hemiparesis/hemiparetic cerebral palsy hydrocephalus hydrops fetalis hyperacusis hyperammonemia hyperreflexia hypersalivation hypertonia, spasticity hypoglycemia hypothyroidism hypotonia impaired visual acuity infantile spasms infections (severe or recurrent) inverted nipples irritability jaundice joint swelling ketosis kyphoskoliosis lactic acidosis large liver large spleen lethargy, drowsiness, malaise or sleep disorder leukoencephalopathy limb abnormalities, limb deformities liver failure liver involvement (acute, chronic, hepatitis) low set ears macrocephaly (large calvaria, >2 SD for age) macroglossia, large/protuding tongue mental retardation metabolic acidosis microcephaly microphthalmus motor retardation muscle weakness muscular rigidity myoclonus myopathy neurological deterioration neutropenia (decreased neutrophils) normal at birth nystagmus oculogyric crisis onset, adolescent onset, adult onset, child onset, fetus onset, infant onset, newborn opisthotonus optic atrophy Organic acid, spinal fluid Organic acids, urine pallor pancreatic insufficiency pancreatitis pericardial effusion peripheral neuropathy photophobia or photosensitive defect in light-exposed area polydipsia (increased drinking) polyhydramnion (maternal) polyuria progressive neurologic defect psychosis ptosis (drooping eyelid) pyramidal signs renal cysts renal failure, acute/chronic respiratory insufficiency retinopathy rickets rigor seborrhoic skin rush seizures short stature skin rushes skin, abnormal skin, thickened spastic diplegia/quadriplegia speech development, delayed, abnormal spinal cord demyelinisation strabismus stridor strokelike episodes sweating tachypnea, hyperpnea, dyspnea, respiratory distress teleangiectasia temperature instability tremor or twitching vomiting X-ray, abnormalities