Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0038379 (strabismus)
 9,317 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A female child with brachycephaly, hypertelorism, convergent strabismus, interstitial keratitis, analgesia on both sides of the face, absent corneal reflexes, and focal congenital alopecia of a zone of the occipital and posterior parietal scalp is presented. The patient also had generalized hypotonia in early life, and at age 4 years 9 months, she was found to be moderately mentally subnormal and to have severe cerebellar deficit consisting of gait and truncal ataxia. There was no clinical evidence of other cranial nerves being affected. It is postulated that the patient has a cerebellotrigeminal and focal dermal dysplasia due to a development arrest of the ectoderm, which gives rise to the alar plate of the rhombencephalon, the overlying epidermis, the motor nucleus of V, and the trigeminal placodes.
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PMID:Cerebellotrigeminal and focal dermal dysplasia: a newly recognized neurocutaneous syndrome. 9 27

Interstitial keratitis is a rarely occurring sign in sarcoidosis. We report a case of childhood sarcoidosis with initial ocular presentation as interstitial keratitis. Erythema nodosum preceded the ocular findings by 4 years and arthritis developed 1 year after ocular findings developed. Although no history of intraocular inflammation was present, there was evidence of inactive chorioretinitis and vitritis found at initial presentation. Systemic steroids were used to treat the patient's skin lesions and topical steroids to treat his corneal inflammation. He developed posterior uveitis and optic nerve edema both of which were responsive to oral steroids. Two years after the presentation of his ocular findings, the onset of pulmonary symptoms and resultant transbronchial biopsy confirmed his diagnosis of sarcoidosis.
J Pediatr Ophthalmol Strabismus
PMID:Interstitial keratitis as presenting ophthalmic sign of sarcoidosis in a child. 763 3