Groll-Hirschowitz Syndrome is a rare hereditary disorder associated with consanguineous parents.

Inheritance: autosomal recessive


Clinical features of GHS:

(1) progressive sensorineural deafness during childhood (due to cochleosaccular degeneration) with normal vestibular function

(2) progressive sensory neuropathy without peripheral trophic changes (with demyelination)

(3) multiple diverticula in the small intestine

(4) jejunoileal ulcerations with loss of serum proteins

(5) malabsorption for fat with steatorrhea

(6) cachexia


Neuropathy involving the vagus nerve results in:

(1) loss of gastric motility

(2) tachycardia

(3) loss of carotid sinus reflex (with baroreflex failure)

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