J Korean Ophthalmol Soc.  1976 Mar;17(1):105-110.

A Dysautonomia Simulating Riley-Day Syndrome

• Kim HB
• Choi O
• Kong YT

Abstract

Familial dysautonomia, first described by Riley and co-workers in 1949, is a congenital, heritable syndrome. It is transmitted by a recessive autosomal gene which is generally limited to persons of Jewish extraction; however, rare occurrences among non-Jewish Caucasians and in a black girl have been reported. An eight-year old Korean boy was admitted to Severance Hospital with bulbar conjunctival injection OU for 1 month and visual disturbance OS for 10 days. Examination revealed exfoliated epithelium in an area of about 3mm in diameter in the center of the left cornea, multiple punctate erosions and edema of the corneal epithelium. Yet, he experienced no discomfort, blepharospasm, nor photophobia. He had decreased corneal sensation, decreased lacrimation by Schirmer test and miosis was induced biJaterally by 0.25% pilocarpine (equivalent to 2.5% methacholine). The patient had decreased deep tendon reflexes and postural hypotension, and showed emotional lability, indifference to pain, and abnormal temperature control. He also had marked anorexia, swallowing difficulty, cyclic vomiting, abdominal pain, headache, intermittent vascular hypertension and one episode of convulsive seizure. He was positive to histamine intradermal injection test and had abnormal EEG. EMG was suggestive of some form of neuropathy. He was treated with toplca 0.5% chloramphenicol solution and 10% dextran solution alternatively q.2 hrs., terramycin ophthalmic ointment q.h.s. and bilateral patching; he also received 50,000 units of vitamin A for 10 days. He showed marked improvement of his ocular symptoms in 6 days. The above patient shows many of the essential features of the familial dysautonomia syndrome as outlined by Riley; however, he also lacks some of the most important features. Therefore, we feel that the patient has a case of some other type of autonomic dysfunction simulating Riley-Day svndrome.

MeSH Terms

Abdominal Pain
Anorexia
Blepharospasm
Chloramphenicol
Cornea
Deglutition
Dextrans
Dysautonomia, Familial*
Edema
Electroencephalography
Epithelium
Epithelium, Corneal
Female
Headache
Histamine
Humans
Hypertension
Hypotension, Orthostatic
Injections
Injections, Intradermal
Male
Miosis
Oxytetracycline
Photophobia
Pilocarpine
Primary Dysautonomias*
Reflex, Stretch
Seizures
Sensation
Vitamin A
Vomiting
Chloramphenicol
Dextrans
Histamine
Oxytetracycline
Pilocarpine
Vitamin A