Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0027066 (myoclonus)
 4,275 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Tetrahydrobiopterin (BH4) deficiencies are a heterogeneous group of disorders caused by a defect in two of the three enzymes involved in its biosynthesis or in the two recycling enzymes. Except for the deficiency of dehydratase, an enzyme catalyzing a reaction in the recycling pathway, all other variants of BH4 deficiency are characterized by developmental delay, progressive neurological deterioration, hypokinesis, drooling, swallowing difficulty, truncal hypotonia, increased limb tone, myoclonus and brisk deep tendon reflexes. A deficiency of guanosine triphosphate cyclohydrolase I (GTPCH), the first enzyme in the biosynthetic pathway of BH4, is described in a 14-month-old male infant with hyperphenylalaninemia, developmental delay, hypertonia of the extremities, seizures, feeding difficulties, and vomiting. Urinary pteridine screening revealed very low levels of neopterin and biopterin which was highly suggestive of GTPCH deficiency. Low cerebrospinal fluid concentrations of 5-hydroxyindoleacetic acid (5HIAA) and homovanillic acid concentrations, together with no detectable neopterin and decreased concentrations of biopterin and folate, agreed with the diagnosis of GTPCH deficiency. Subsequently measured neopterin and biopterin synthesis in cytokine-stimulated skin fibroblasts confirmed GTPCH deficiency, albeit indirectly. The patient showed marked improvement on a low-protein low-phenylalanine diet with neurotransmitter precursor administration. The favorable outcome in this patient clearly shows that not only newborns with elevated phenylalanine levels but also older children with neurological signs and symptoms should be screened for a BH4 deficiency in order to have maximum benefit of the treatment.
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PMID:Guanosine triphosphate cyclohydrolase I deficiency: a rare cause of hyperphenylalaninemia. 1077 Jun 63

Ludwig angina is a rapidly progressing submaxillary, submandibular, and sublingual necrotizing cellulitis of the floor of the mouth that can have lethal consequences due to airway obstruction. Various aerobic and anaerobic microorganisms, and less often fungi, have been implicated to cause Ludwig angina, including oral flora such as streptococci and staphylococci. Early recognition and the use of parenteral antibiotics can prevent mortality and morbidity. We report a case of a 25-year-old white man who was admitted to the hospital by his dentist after being diagnosed with Ludwig angina secondary to periodontal abscesses involving teeth #17 and #32. Although antibiotics were administered, while in the hospital, the decedent had difficulty swallowing and was drooling. He suddenly began to have seizure-like activity thought to be anoxic myoclonus. The decedent was aggressively resuscitated and taken to the operating room for neck exploration and a tracheostomy. Neck exploration revealed severe necrotizing acute inflammation of the deep soft tissues and musculature of the neck. He remained on life support for 7 days until he was declared brain dead. Ludwig angina is a progressive cellulitis that often results in death by asphyxia. Ludwig angina can be complicated by subsequent deep neck infection. The underlying etiologies and common scenarios are examined, and significant autopsy findings and dissecting procedures are discussed. The pathophysiology of Ludwig angina is studied with a review of the current literature.
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PMID:A case of Ludwig angina: a case report and review of the literature. 1872 84