Mental retardation associated with myopathy, facial
malformation, and seizures.
Puerto Rican Infant Hypotonia Syndrome.
Incidence and Genetic Inheritance
have been described; genetic inheritance unknown.
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
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.
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.
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)
Table Q-1 Characteristic Course of de Quervain Thyroiditis |Favorite Table|Download (.pdf)
Table Q-1 Characteristic Course of de Quervain Thyroiditis
Granulomatous Giant Cell Thyroiditis; De Quervain
Subacute Struma; Quervain Syndrome; Subacute Painful Thyroiditis.
An acquired disease that was first described by Fritz de
Quervain, (1868–1940), a Swiss surgeon, in 1904.
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
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 ...