Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0009952 (febrile convulsions)
 1,215 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The authors valued some metabolic parameters (sodium, potassium, calcium, blood levels of glucose, proteins, nitrogen, creatinine) in 159 children with febrile convulsions and compared the results with those of a group of children with fever (50 subjects) and of a group of health, fever free children (50 subjects). In the patients with febrile convulsions serum levels of sodium, calcium and osmolarity resulted significantly lower than those obtained in both control groups. The electrolytic modification (overall hyponatremia, probably due to a SIADH) may have a role in short-term relapses of febrile convulsions. Hyponatremia is present also in some children with high fever, without seizures; it may be that hyponatremia, in predisposed subjects, lower the threshold of neuromuscular excitability.
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PMID:[Electrolytic changes in febrile convulsions]. 409 12

Autism spectrum disorder (ASD) is the most common disability-causing neurodevelopmental disorder in childhood. Although inborn errors of metabolism (IEM) are rare causes of ASD, they are significant for several reasons, including implications in genetic counseling and determination of prognosis. In this article, we present a 6-year-old boy who presented to us with ASD and was diagnosed with creatine transporter deficiency. Physical and neurologic examination of this patient had not previously raised suspicion of IEM, but twin pregnancy, prematurity, NICU stay due to necrotizing enterocolitis, transient infantile hypotonia, gross-motor delay, breath-holding spells, and a single febrile seizure complicated the history. MRI revealed mild T2-hyperintensity in posterior periventricular white matter. Further evaluation with magnetic resonance spectroscopy, which showed a decreased creatine peak, led to diagnostic investigations for disorders of creatine metabolism, revealing increased urinary creatine:creatinine ratio and a de novo, novel hemizygous frameshift variant in SLC6A8 Clinicians are advised to maintain a high index of suspicion for IEM and to evaluate patients with ASD for syndromic features. Although current guidelines from relevant organizations differ in their recommendations regarding the necessity and the extent of metabolic screening in ASD, there is a growing trend toward screening for treatable IEM. In this case report, we present challenges and pitfalls in the diagnostic journey for creatine transporter deficiency and underline the significance of a thorough history and physical examination in the evaluation of a child with ASD.
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PMID:Creatine Transporter Deficiency Presenting as Autism Spectrum Disorder. 3309 39