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Show Journal of Neitro- Ophtlwlmology I9( J): 180- 181, 1999. © 1999 Lippincott Williams & Wilkins, Inc., Philadelphia Optic Disc Edema in Neonatal Onset Multisystem Inflammatory Disease ( NOMID) Andrew G. Lee, MD, and Robert W. Warren, MD Purpose: To inform ophthalmologists about neonatal onset multisystem inflammatory disease ( NOMID), a rare condition with ophthalmologic manifestations. Methods: We report a single case of NOMID with optic disc edema. Results: A 28- month- old child with neonatal rash, arthropathy, central nervous system ( CNS) involvement, and optic disc edema was diagnosed with NOMID. Conclusions: The finding of posterior uveitis or optic disc edema in a child with juvenile onset arthritis may allow the differentiation of NOMID from juvenile rheumatoid arthritis. Key Words: Neonatal onset multisystem inflammatory disease. Neonatal onset multisystem inflammatory disease ( NOMID) is a rare systemic inflammatory disease of unknown etiology and pathogenesis characterized by the triad of neonatal rash, arthropathy, and central nervous system ( CNS) involvement. Although ocular involvement has been reported previously in the pediatric and rheumatologic literature, to our knowledge this is the first reference to the neuro- ophthalmologic findings of NOMID in the English language ophthalmic literature ( 1- 3). Case report A 28- month- old white boy was referred for evaluation of optic disc edema. He was a 7 pound and 2 ounce 39- week gestational product of an uncomplicated pregnancy and vaginal delivery on March 27, 1996. At birth, the infant was noted to have a generalized urticarial rash. The rash thereafter varied in intensity, but was present nearly continuously. His developmental history included Manuscript received April 13, 1999; accepted April 22, 1999. From the Departments of Ophthalmology, Neurology, and Neurosurgery, Baylor College of Medicine, and the Department of Neurosurgery at ( he M. D. Anderson Cancer Center, The University of Texas, Houston, Texas and the Departments of Ophthalmology ( AGL), Pediatrics ( RWW) and Rheumatology ( RWW) at Texas Children's Hospital, Baylor College of Medicine, Houston, Texas. This work was supported in part by an unrestricted grant from Research lo Prevent Blindness, Inc., New York, N. Y., and the Baylor Ncuro- ophlhalmology Academic Fund. Address correspondence and reprint requests to Dr. Andrew G. Lee, 6565 Fannin Street, NC- 205, Houston, Texas 77030. sitting up at age 4 months, but he did not crawl until late April 1997 ( age 13 months). His length was in the 50th percentile at 7 months but dropped to the 25th percentile and then the 10th percentile over the next year. His weight remained stable at the 80th percentile. In February 1997, he developed difficulty with his right lower extremity. Physical examination demonstrated external rotation of the right leg and radiographs revealed closure of the epiphyseal growth plate. Laboratory evaluation revealed hemoglobin of 9.3 g/ dl ( normal 11.5 g/ dl) and a white blood cell count of 22,000/ mm3. Erythrocyte sedimentation rate measured 35 mm/ h. He had intermittent, recurrent fevers up to 103° F. Multiple skin biopsies of the recurrent rash were consistent with chronic urticaria. The patient developed generalized, diffuse, non- tender lymphadenopathy and moderate hepatomegaly. An inguinal lymph node biopsy showed no evidence of malignancy. Bone marrow biopsy was unremarkable. The patient had arthralgias and pain in the right knee. He was seen by rheumatology on May 16, 1997. His weight was 10.9 kg ( 60th percentile) and his height was 74.1 cm ( 7th percentile). Neurologic examination revealed mild gross motor delay. The diagnosis of NOMID was made and the patient was treated with oral nonsteroidal agents. Ophthalmologic examination in June 1997 revealed a visual acuity of fixing and following in each eye. There was no nystagmus. The pupils were equal in size with a normal light reaction in each eye and no afferent pupillary defect. There was no evidence of anterior segment inflammation. Motility examination was full. Visual fields were not tested formally. Tactile tonometry was normal. Ophthalmoscopy revealed bilateral optic disc edema. There was no evidence of posterior uveitis. A computed tomography ( CT) scan of the head was normal on May 28, 1997 and there was no hydrocephalus. The patient had chronic inflammatory aseptic meningitis, and lumbar puncture on May 29, 1997 revealed 250 white blood cells/ mm3 ( 56% polymorphonuclear cells and 42% mononuclear cells). The cerebrospinal fluid ( CSF) protein was 33 mg/ dl ( normal = 15 to 45 mg/ dl), and CSF glucose was 42 mg/ dl. CSF gram stain and cultures did not demonstrate any organism. Repeat CSF studies on July 17, 1997, revealed 80 white blood 180 NOMID 181 cells/ mm3 ( 70% polymorphonuclear cells) and repeat CSF on May 28, 1998, revealed 170 white blood cells/ mm3. The patient was treated with oral corticosteroids and had improvement in the optic disc edema. He experienced exacerbations and remissions of his systemic symptoms and recurrent optic disc edema and was treated with pulse intravenous corticosteroids and methotrexate. He had marked improvement in his optic disc edema on this treatment regimen. In July 1998, he had mild optic atrophy in the right eye and mild hyperemia of the left optic disc but no uveitis or optic disc edema. DISCUSSION NOMID is a rare multisystem inflammatory disorder that may have ocular and CNS involvement. The characteristic features were summarized from 32 cases in the literature by Torbiak et al. ( 1). These include the following: 1) a severe, asymmetric, deforming, painful arthropathy usually affecting large joints ( 100%) with almost pathognomonic bizarre epiphyseal radiographic changes ( 80%); 2) a generalized, evanescent macular or maculo-papular rash with urticarial features ( 100%); 3) failure to thrive ( 100%); 4) recurrent or persistent fever ( 100%); 5) generalized adenopathy or hepatosplenomegaly ( 100%); and 6) CNS involvement such as chronic meningitis with CSF pleocytosis ( 88%), intellectual impairment ( 87%), seizures ( 33%), and sensorineural hearing loss ( 22%) ( 1). The hematologic abnormalities include anemia ( 100%), increased erythrocyte sedimentation rate ( 100%), increased complement levels ( 60%), increased immunoglobulins ( 75%), and persistent leukocytosis ( 100%). Rheumatoid factor was positive in only 6% and no patients had a positive antinuclear antibody ( 1). The ocular manifestations of NOMID include uveitis and optic disc edema ( 1- 3). Prieur and Griscelli reported three patients with NOMID ( 2). Of these three patients, all had optic disc edema, one had a paralimbic keratitis of the inferior hemicornea, and one had conjunctivitis and posterior synechiae ( 2). Yarom et al. reported anterior and posterior uveitis as well as optic disc edema in two patients with NOMID ( 3). Torbiak et al., in their review of the literature in 1989, reported ocular inflammation in 12 of 14 patients ( 86%), and hydrocephalus was reported in 14 of 15 patients ( 93%) ( 1). The pathogenesis of the optic disc edema in NOMID may be an inflammatory optic neuritis related to the primary multisystem inflammation and posterior uveitis, an infiltrative optic neuropathy caused by the chronic meningitis, or most likely, optic disc edema caused by increased intracranial pressure. The pathogenesis of NOMID is poorly defined. Intrauterine or intrapartum infection or abnormal regulation of the inflammatory response have been implicated in NOMID. Despite extensive evaluations, a precise infectious or inflammatory etiology has not been identified. The treatment of NOMID remains unclear, but nonsteroidal antiinflammatory drugs, steroid, and other immunosuppressive agents have been used with some success ( 1- 3). The primary differential diagnosis is systemic onset juvenile rheumatoid arthritis ( JRA). CNS involvement and optic disc edema, although common in NOMID, are uncommon in JRA. Anterior uveitis, although reported in JRA ( particularly the pauciarticular form in girls), is rarely present in systemic JRA and posterior uveitis is even more uncommon in JRA ( 1- 3). Thus, documentation of posterior uveitis and optic disc edema may allow differentiation of JRA from NOMID. Although NOMID and JRA share similar clinical profiles, NOMID has distinguishing features including onset during the first few days of life, persistent symptoms, arthropathy with more joint deformity and bony prominence, absence of morning stiffness, and distinctive radiographic findings ( e. g., enlarged epiphyses and patellar overgrowth) ( 4). REFERENCES 1. Torbiak RP, Dent PB, CockshoU WP. NOMID- a neonatal syndrome of multisystem inflammation. Skeletal Radiol 1989; 18: 359- 64. 2. Prieur A- M, Griscelli C. Arthropathy with rash, chronic meningitis, eye lesions, and mental retardation. ./ Pediafr 1981; 99: 79- 83. 3. Yarom A, Renncbohm RM, Levinson JE. Infantile multisystem inflammatory disease: a specific syndrome? ./ Pedialr 1985; 106: 390- 6. 4. Hultcnloeher A, Fricdcn IJ, Emery H. Neonatal onset multisystem inflammatory disease. ./ Rheumatol I995; 22: l 171- 3, J Netiro- Ophlluilmol. Vol. I'), No. .(, 1999 |
