Konigsmark Syndrome

At a glance

It is an inherited progressive sensorineural hearing loss associated with the presence of malformed middle ears. Other features include mental retardation, narrow palate, and hypogonadism. Other features include mild thrombocytopenia and dysfunctional enlarged platelets; however, it does not seem to be associated with significant bleeding tendencies.

Synonyms

Mengel-Konigsmark Syndrome; Nonsyndromic Sensorineural Deafness; Hereditary Low-Frequency Hearing Loss; Konigsmark-Hollander-Berlin Syndrome; Konigsmark-Knox-Hussels Syndrome.

Incidence

The incidence and prevalence of this medical condition remain unknown.

Genetic inheritance

Inherited as an autosomal dominant. Gene map locus is 5q31.

Pathophysiology

Short increment sensitivity index (SISI) examination suggests a cochlear lesion as the source of the hearing loss.

Diagnosis

Familial occurrence of sensorineural hearing loss and malformed ears.

Clinical aspects

Sensorineural hearing loss that shows moderate variation in affected persons. In general, the hearing loss begins in childhood, but postlingual (after language and speaking have been acquired), affecting first the low frequencies and progressing slowly to involve all frequencies in the latter decades of life.

Precautions before anesthesia

There are no specific precautions associated with this syndrome except for the necessity to ensure that there is no associated mild thrombocytopenia. Otherwise, it is the usual preoperative preparation for an anesthesia.

Anesthetic considerations

Anesthetic considerations for any individual affected with this syndrome are those associated with the surgical procedures rather than the syndrome itself. If there is confirmation of thrombocytopenia, even though it is not recognized to lead to significant bleeding, one must be prepared to correct the problem.

Pharmacological implications

There is no known specific pharmacological implications.

References