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At a Glance

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Mental retardation associated with myopathy, facial malformation, and seizures.

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Synonym

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Puerto Rican Infant Hypotonia Syndrome.

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Incidence and Genetic Inheritance

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Three cases have been described; genetic inheritance unknown.

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Clinical Aspects

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Features include myopathy, (congenital fiber type disproportion, i.e., type I muscle fibers are significantly smaller than type II fibers (normally about the same size), and a predominance of type I fibers by numbers (normally about equal)), nonprogressive hypotonia, facial malformations (hypertelorism, broad nasal root, long philtrum, mouth held open, high-arched and narrow palate, microdontia), delayed bone age with abnormal ossification, pectus excavatum, seizures, and mental retardation.

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Anesthetic Considerations

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Direct laryngoscopy and tracheal intubation could be difficult because of facial malformations. Avoid anesthetic muscle relaxants until the airway has been secured. Evaluate neurological function (clinical, history, CT/MRI, EEG). Consider interaction between antiepileptic treatment and anesthetic drugs. Evaluate myopathy (history, clinical, creatine phosphokinase); avoid succinylcholine and halogenated drugs. Reduce neuromuscular blocking agent doses because of hypotonia and use a peripheral nerve stimulator.

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References

Qazi QH, Markouizos D, Rao C, et al: A syndrome of hypotonia, psychomotor retardation, seizures, delayed and dysharmonic skeletal maturation, and congenital fibre type disproportion. J Med Genet 31(5):405, 1994.

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At a Glance

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Most common cause of a painful thyroid gland. It is caused by transient nonbacterial inflammation. Hyperthyroidism often occurs initially and can be followed by hypothyroidism. (Table Q-1)

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Table Graphic Jump Location
Table Q-1 Characteristic Course of de Quervain Thyroiditis
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Synonyms

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Granulomatous Giant Cell Thyroiditis; De Quervain Subacute Struma; Quervain Syndrome; Subacute Painful Thyroiditis.

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History

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An acquired disease that was first described by Fritz de Quervain, (1868–1940), a Swiss surgeon, in 1904.

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Incidence

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Five percent of all patients with thyroid pathology. Peak incidence in the fourth and fifth decade of life; sex ratio female:male 3.5:1. Most common during summer and fall. High incidence of HLA-B35 positivity.

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Pathophysiology

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Presumably caused by a viral infection or postviral inflammatory response. A proposed mechanism is that a viral antigen binds to HLA-B35 molecules and that the complex activates cytotoxic T lymphocytes that damage thyroid follicular cells because of their similarity with the infection-related antigen. Destruction of follicular epithelium involves the release of thyroid-binding globulin into blood. T3 and T4 concentration in serum is increased and thyroid-stimulating hormone secretion is suppressed. The thyroid follicles then regenerate and thyroid hormone synthesis and ...

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