ABSTRACT
The Fukuyama type congenital muscular dystrophy (FCMD) is a rare autosomal recessive disorder characterized by cranial, cerebellar and ocular malformations and congenital muscular dystrophy. Hyperekplexia is characterized by transient, generalized rigidity in response to unexpected loud noises or sudden tactile stimulation. Herein, we report an infant who had typical clinical features of FCMD with hyperekplexia. Our purpose is to draw attention to this first report of concomitant FCMD and hyperekplexia.
Subject(s)
Chromosome Aberrations , Genes, Recessive/genetics , Infant, Newborn , Muscular Dystrophies/genetics , Reflex, Abnormal/genetics , Abnormalities, Multiple/diagnosis , Abnormalities, Multiple/genetics , Acrocallosal Syndrome/diagnosis , Acrocallosal Syndrome/genetics , Brain/abnormalities , Brain/pathology , Consanguinity , Electromyography , Female , Humans , Magnetic Resonance Imaging , Microcephaly/diagnosis , Microcephaly/genetics , Muscle Hypotonia/diagnosis , Muscle Hypotonia/genetics , Muscular Dystrophies/diagnosis , Phenotype , TurkeyABSTRACT
BACKGROUND AND PURPOSE: Iodine deficiency and hypothyroxinemia have a negative effect on the development of the central nervous system during fetal and early postnatal life. MR spectroscopy is a sensitive technique for detecting the changes of brain metabolites in various neurodevelopmental disorders. By using MR spectroscopy, we aimed to show the decrease in N-acetylaspartate (NAA) levels in neonates with hypothyroidism who were born in iodine-deficient areas and its normalization with early thyroxine therapy. METHODS: Eight congenital hypothyroid and 8 healthy full-term neonates were chosen as study and control groups, respectively. Serum thyroid hormones and median urinary iodine concentration of the neonates and their mothers were measured. Measurements of NAA, choline (Cho), and creatine (Cr) were made in frontal white matter, parietal white matter (PWM), and the thalamus with MR spectroscopy, first at 5-7 days of life and after 8 weeks of thyroxine therapy in the study group and at the same time in the control group. RESULTS: The patient group had significantly lower NAA/Cr ratios in PWM and the thalamus (P < .05, for each), whereas the difference between Cho/Cr ratios of the 2 groups before therapy was not significant. After 8 weeks of thyroxine therapy, measurements did not show significant difference between study and control groups. CONCLUSION: MR spectroscopy performed in neonates with hypothyroidism reveals that intrauterine hypothyroxinemia due to iodine deficiency results in significant decrease in NAA levels in PWM and the thalamus and that the normalization of NAA levels is achieved with early thyroxine therapy.