Vitamin a deficiency and xerophthalmic fundus in autoimmune hepatitis and cirrhosis.

[hirschsprung disease]

To report a patient with autoimmune hepatitis and cirrhosis who was diagnosed with severe vitamin A deficiency based on the findings of xerophthalmic fundus .Retrospective chart review .A 36 -year -old African American woman who had a history of autoimmune hepatitis and cirrhosis presents with peripheral retinal white spots , which led to the diagnosis of vitamin A deficiency .The patient presented to the eye clinic for intermittent blurry vision 3 months after the diagnosis of liver cirrhosis secondary to autoimmune hepatitis since age 15 . She also underwent partial large and small intestine resection as an infant for Hirschsprung disease . Anterior segment examination was significant for severe punctate epithelial erosions and posterior segment examination was significant for extensive white spots in the peripheral retina in both eyes . Workup showed near nondetectable levels of vitamin A (<0 .06 mg /L , normal 0 .3 -1 .2 mg /L ) and retinyl palmitate (<0 .02 mg /L , normal > 0 .2 mg /L ). After treatment with 200 ,000 IU of vitamin A orally , the white spots slowly resolved in ∼6 months . She never developed nyctalopia and her dry eye symptoms completely resolved .Although rare , vitamin A deficiency should be considered in patients with liver cirrhosis especially in those with a history of intestinal surgeries . Early diagnosis and treatment with vitamin A supplementation can reverse the signs and symptoms of xerophthalmia .

Diseases
Validation

Diseases presenting "early diagnosis" symptom

achondroplasia

acute rheumatic fever

adrenal incidentaloma

adrenomyeloneuropathy

alexander disease

allergic bronchopulmonary aspergillosis

aromatase deficiency

carcinoma of the gallbladder

cholangiocarcinoma

classical phenylketonuria

coats disease

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dentin dysplasia

dentinogenesis imperfecta

dracunculiasis

erdheim-chester disease

erythropoietic protoporphyria

esophageal carcinoma

esophageal squamous cell carcinoma

fabry disease

familial hypocalciuric hypercalcemia

familial mediterranean fever

gm1 gangliosidosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

inclusion body myositis

kabuki syndrome

kallmann syndrome

kindler syndrome

krabbe disease

locked-in syndrome

monosomy 21

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

primary hyperoxaluria type 1

proteus syndrome

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

systemic capillary leak syndrome

thoracic outlet syndrome

triple a syndrome

typhoid

von hippel-lindau disease

wiskott-aldrich syndrome

wolf-hirschhorn syndrome

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