Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0026827 (hypotonia)
 5,860 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In 14 patients with unilateral Horner's syndrome there was a significant increase in central corneal thickness on the affected side (mean difference 4.86 micron +/- SEM 1.71 micron; P less than 0.02). It is suggested that the sympathetic nerve supply of the eye is of importance for corneal hydration. Different possible mechanisms are discussed. Among the investigated patients no permanent ocular hypotonia or hyperaemia was found. On slit-lamp investigation there was no corneal change. The corneal sensitivity was equal on both sides.
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PMID:The central corneal thickness in patients with Horner's syndrome. 662 12

Joubert syndrome (JS) is characterized by the "molar tooth sign" (MTS) with cerebellar vermis agenesis, episodic hyperpnea, abnormal eye movements, and hypotonia. Ocular and oculomotor abnormalities have been observed; however, Horner syndrome (HS) has not been documented in children with JS. We present the case of a 2-month-old boy having ocular abnormalities with bilateral nystagmus, left-dominant bilateral ptosis, and unilateral miosis and enophthalmos of the left eye, which were compatible with HS. Brain magnetic resonance imaging (MRI) revealed the presence of the MTS. Neck MRI showed no definite lesion or mass around the cervical sympathetic chain. His global development was delayed. He underwent ophthalmologic surgery, and showed some improvement in his ptosis. To the best of our knowledge, the association of HS with JS has not yet been described. We suggest that early neuroimaging should be considered for neonates or young infants with diverse eye abnormalities to evaluate the underlying etiology.
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PMID:A neonate with Joubert syndrome presenting with symptoms of Horner syndrome. 2801 41