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congenital hypothyroidism/crise épileptique
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Intractable neonatal seizures: an unusual presentation of congenital hypothyroidism.
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Congenital hypothyroidism is the most common treatable cause of mental retardation. We report an unusual case of congenital hypothyroidism presenting as intractable seizures in an infant delivered to a mother known to have autoimmune hypothyroidism and who was noncompliant with therapy. To our
Incidence of febrile convulsions in children with congenital hypothyroidism.
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Brain excitability has been inconsistently reported to be increased both in hypo- and hyperthyroidism, but there have been few studies on the effects of thyroid hormones on brain excitability in children. With this in mind, we investigated the incidence of febrile convulsions (FCs) among patients
Congenital hypothyroidism presenting with seizures and pseudo-Hirschsprung's disease in newborn.
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[Congenital hypothyroidism missed on newborn screening: report of two cases].
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Two male term babies were born at Mackay Memorial Hospital; both were born without incident. Newborn screenings (including phenylketonuria, homocystinuria, galactosemia, congenital hypothyroidism and G-6-PD deficiency) were performed at the age of three days and judged to be normal. In the later
Screening for congenital hypothyroidism in cognitively delayed children.
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During the period January 1994 to December 1997, a total of 560 cognitively delayed children were prospectively screened for congenital hypothyroidism in the paediatric neurology clinic at Jordan University Hospital. Seventeen (3%) children were diagnosed to have congenital hypothyroidism. Mean age
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?
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Two sisters born to consanguineous Lebanese parents had mental retardation and epilepsy, brachymetacarpalia, hirsutism, bulbous soft nose, thick floppy ears with abnormal configuration and gingival hypertrophy. One girl presented additionally with tetralogy of Fallot and the other with congenital
Perinatal and early infantile symptoms in congenital disorders of glycosylation.
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Congenital disorders of glycosylation (CDG) are a rapidly growing family of inborn errors. Screening for CDG in suspected cases is usually performed in the first year of life by serum transferrin isoelectric focusing or mass spectrometry. Based on the transferrin analysis patients can be
[Neurological disorders and endemic goiter: comparative analysis of 2 provinces in Togo].
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Neurological diseases are one of the main causes of high mortality and morbidity in developing countries. The prevention of these diseases is possible if they are well known. The purpose of this study was to evaluate the prevalence and the distribution of the main neurological affections in two
The first Mongolian cases of phenylketonuria in selective screening of inborn errors of metabolism.
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BACKGROUND
Inborn errors of metabolism (IEM) are rare genetic disorders in which a single gene defect causes a clinically significant block in a metabolic pathway. Clinical problems arise due to either accumulation of substrates that are toxic or interfere with normal function, or deficiency of the
Phenotypic spectrum and management issues in Kabuki syndrome.
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OBJECTIVE
To report the phenotypic spectrum and management issues of children with Kabuki syndrome (Niikawa-Kuroki syndrome) from North America.
METHODS
A case series of children (n = 18) with clinical findings of Kabuki syndrome.
METHODS
Medical genetics clinics in Washington, Alaska, and
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