Riley-Day syndrome

Alternative names:

familial dysautonomia

Symptoms:

• a family history of Riley-Day syndrome
• feeding difficulties--poor sucking and poor ability to swallow
• breath holding
• sweating while eating
• protracted episodes of vomiting
• lack of response to painful stimuli
• seizures
• hypotonia

Signs and tests:

• repeat aspiration pneumonia
• cyclic vomiting
• unsteady gait
• delayed puberty
• speech abnormalities
• corneal damage due to lack of tearing and blink reflex
• absent deep tendon reflexes
• insensitivity to pain
• normal intellect

Tests:

• X-ray of the chest showing signs of recurrent aspiration pneumonia
• VMA - decreased
• HVA - elevated
• absence of flare response to histamine (normally when histamine is injected just under the skin there will be swelling, if there is a lack of this flair response or swelling the test is positive)