ABSTRACT
This manuscript describes a case of a 4-year-old child with Down syndrome involving hypotonia in which the use of sweets to induce oral muscular function contributed to the need to extract all the primary teeth due to extensive caries. The need for interdisciplinary education and practice targeted to the treatment of children with special health care needs is emphasized.
Subject(s)
Dental Caries/etiology , Dental Caries/surgery , Dietary Sucrose/adverse effects , Down Syndrome/therapy , Muscle Hypotonia/diet therapy , Child, Preschool , Down Syndrome/complications , Humans , Male , Muscle Hypotonia/etiology , Patient Care Team , Severity of Illness Index , Tooth ExtractionABSTRACT
We report clinical findings in a 12-year-old girl with a mild case of fumarase deficiency who continues to make progress. She has two novel mutations of the fumarase gene [c.521C>G (p.P174R) and c.908T>C (p.L303S)]. A trial of low protein diet did not reduce fumaric aciduria.
Subject(s)
Diet, Protein-Restricted , Metabolism, Inborn Errors/diet therapy , Muscle Hypotonia/diet therapy , Psychomotor Disorders/diet therapy , Blood Chemical Analysis , Brain/pathology , Child , Electroencephalography , Female , Fumarate Hydratase/deficiency , Fumarate Hydratase/genetics , Humans , Metabolism, Inborn Errors/diagnosis , Muscle Hypotonia/diagnosis , Mutation , Neuroimaging , Psychomotor Disorders/diagnosisABSTRACT
An 8-month-old infant presented because of poor development followed by the acute onset of cortical blindness and a severe seizure disorder at the time of changing from breast to formula feeding. Metabolic investigations revealed an increased urinary excretion of 2-methyl-3-hydroxybutyric, methylmalonic and 2-ethylhydracrylic acids. The concentration of these compounds in urine was augmented by oral protein (5 g/kg per day) and isoleucine loading. A low protein diet (1.5 g/kg per day) produced a dramatic response with complete cessation of seizures and a marked improvement in vision and general development. After many months of low protein diet, the biochemical abnormalities were no longer detectable, even after protein loading. Extensive investigations have failed to reveal an intrinsic enzyme defect which would account for these clinical and biochemical findings. A toxic effect of a bacterial metabolite of isoleucine is proposed.