ABSTRACT
Short-chain-acyl-CoA-dehydrogenase (SCAD) deficiency is an inborn error of mitochondrial fatty acid metabolism caused by rare mutations as well as common susceptibility variations in the SCAD gene. We describe the case of a 23-year-old male patient who had growth and mental retardation, recurrent vomiting, fever and seizures since infancy. Urinary gas chromatography and (1)H-nuclear magnetic resonance showed elevated levels of ethylmalonic acid. Serum concentrations of acylcarnitine, especially butyrylcarnitine (C4), were abnormally high. A homozygous variant allele of the SCAD gene, 625G>A, was detected. The patient broadens the clinical phenotype of SCAD deficiency and underlines the difficulty of diagnosis. The limited number of patients described may be the result of underdiagnosis.
Subject(s)
Butyryl-CoA Dehydrogenase/deficiency , Magnetic Resonance Spectroscopy/methods , Metabolism, Inborn Errors/blood , Adult , Butyryl-CoA Dehydrogenase/genetics , Carnitine/analogs & derivatives , Carnitine/blood , Chromatography, Gas/methods , Humans , Male , Metabolism, Inborn Errors/diagnosis , Metabolism, Inborn Errors/geneticsABSTRACT
We report a 30-year-old woman with hypertelorism, ptosis, and myopia associated with drug-resistant epilepsy (DRE, Lennox-Gastaut syndrome), mental delay, growth deficiency, ectodermal defects, and osteopenia. To the best of our knowledge, this patient has an unusual combination of symptoms not previously described, associated with severe central nervous system dysfunction. The ectodermal defects were present in a very intriguing form, were difficult to diagnose, and did not conform to any classification or previous description.
Subject(s)
Ectodermal Dysplasia/physiopathology , Epilepsy/physiopathology , Adult , Blepharoptosis/complications , Bone Diseases, Metabolic/complications , Brain/diagnostic imaging , Ectodermal Dysplasia/complications , Ectodermal Dysplasia/diagnosis , Epilepsy/complications , Female , Growth Disorders/complications , Humans , Hypertelorism/complications , Intellectual Disability/complications , Magnetic Resonance Imaging , Myopia/complications , Radiography , Skin/pathology , Spine/diagnostic imagingABSTRACT
Reported is an association of atypical benign childhood epilepsy with centrotemporal spikes (BECTS) and homocystinuria in three apparently healthy children with borderline intelligence, two of whom had difficult-to-control seizures. In all three, EEG were suggestive of BECTS, although the clinical features were not. Homocystinuria could not be diagnosed for several years, pending metabolic evaluation.
Subject(s)
Epilepsy, Rolandic/complications , Epilepsy, Rolandic/diagnosis , Homocystinuria/complications , Homocystinuria/diagnosis , Adolescent , Adult , Anticonvulsants/therapeutic use , Child , Diet Therapy , Drug Resistance , Electroencephalography , Epilepsy, Rolandic/drug therapy , Female , Homocystinuria/therapy , Humans , Intellectual Disability/diagnosis , Intellectual Disability/etiology , Male , Pyridoxine/therapeutic useSubject(s)
Abnormalities, Multiple/pathology , Cerebral Cortex/abnormalities , Ectodermal Dysplasia/complications , Nervous System Malformations/complications , Abnormalities, Multiple/diagnosis , Child , Child, Preschool , Contractile Proteins/genetics , Family Health , Female , Filamins , Humans , Magnetic Resonance Imaging , Male , Microfilament Proteins/genetics , SyndromeABSTRACT
Complications in a long-term ambulatory peritoneal dialysis patient are described.
Subject(s)
Calcinosis/etiology , Peritoneal Dialysis, Continuous Ambulatory/adverse effects , Peritoneal Diseases/etiology , Aged , Aged, 80 and over , Calcinosis/diagnostic imaging , Female , Humans , Peritoneal Diseases/diagnostic imaging , Time Factors , Tomography, X-Ray ComputedABSTRACT
A case of cerebral venous thrombosis caused by undiagnosed homocystinuria is reported. The pitfalls regarding the diagnosis of a potentially medically treatable condition are discussed. Cerebral venous thrombosis in children has a variable type of onset and a multiplicity of causes. This type of pathology, although not frequent, is more common than previously thought. Among the different etiologies, undiagnosed homocystinuria is not routinely considered. We report a case of venous thrombosis of the left transverse cerebral sinus in a girl with drug-resistant partial epilepsy and homocystinuria. This diagnosis was considered and confirmed after the appearance of acute cerebral symptoms caused by venous thrombosis.
Subject(s)
Homocystinuria/diagnosis , Sinus Thrombosis, Intracranial/diagnosis , Child , Cranial Sinuses/pathology , Diagnosis, Differential , Epilepsies, Partial/diagnosis , Female , Homocystinuria/genetics , Humans , Magnetic Resonance Angiography , Magnetic Resonance Imaging , Neurologic ExaminationSubject(s)
Adenylosuccinate Lyase/metabolism , Adenylosuccinate Synthase/metabolism , Carbon-Nitrogen Ligases , IMP Dehydrogenase/metabolism , Ligases/metabolism , Lymphocytes/enzymology , Purines/metabolism , Humans , Inosine Monophosphate/metabolism , Kinetics , Phosphoribosyl Pyrophosphate/metabolismSubject(s)
Liver Regeneration/physiology , Purines/metabolism , Allantoin/urine , Animals , Hypoxanthine , Hypoxanthines/urine , Male , Rats , Rats, Inbred Strains , Uric Acid/urine , Xanthine , Xanthines/urineSubject(s)
HIV Infections/blood , HIV-1 , Lymphocytes/metabolism , Purine Nucleotides/blood , Adult , Chromatography, High Pressure Liquid , Female , Humans , Male , Middle Aged , Reference ValuesABSTRACT
Increased amounts of free sialic acid were found in cultured fibroblasts and urine of a 4-year-7-month-old Italian boy with mental retardation, hypotonia, failure to thrive, coarse facial features, convergent strabismus, pale skin and fair hair. Ultramicroscopic examination of conjunctival and skin tissues showed a number of membrane-bound vacuoles containing low-density granular material in the cytoplasm of the fibroblasts. The clinical, biochemical and ultrastructural findings are similar to those described in Salla disease. Neuraminidase activity is normal. The molecular basis of the sialic acid storage disease is not known. Evidence for defective transport of sialic acid across the lysosomal membrane has been demonstrated in the patient's fibroblasts. It is possible that this might represent the metabolic abnormality.
Subject(s)
Carbohydrate Metabolism, Inborn Errors/epidemiology , Sialic Acids/metabolism , Child, Preschool , Humans , Italy , MaleABSTRACT
Two cases of tyrosinaemia with eye and skin lesions typical of the Richner-Hanhart syndrome are described. The patients are a 29- and 26-year-old brother and sister. They do not show neurological abnormalities or mental retardation. Parents are not consanguineous and family history is negative for similar conditions. The diagnosis of type II tyrosinaemia was based upon an increase of blood tyrosine (14-16mg/100 ml), tyrosinuria and absence of liver and kidney abnormalities. The treatment with a low tyrosine phenylalanine diet has resulted in a disappearence of the ocular manifestations while the cutaneous lesions are much improved.
