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Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome.
J Pediatr Gastroenterol Nutr. 2006 Sep; 43(3):348-52.JP

Abstract

BACKGROUND

Alagille syndrome (AGS) is an autosomal dominant, multisystem disorder defined by developmental abnormalities of the liver, heart, eye and skeleton. Although visual problems are recognised, the severity of visual loss and its link with idiopathic intracranial hypertension (IIH) has not been reported.

AIM

To review the incidence of visual loss and IIH in children with AGS managed at a National Paediatric Liver Unit between 1989 and 2004.

SUBJECTS AND METHODS

Retrospective case note review of children who fulfilled criteria for diagnosis of AGS and had an ophthalmic examination by a paediatric ophthalmologist.

RESULTS

Fifty-five children with AGS were evaluated. Of these, 41 children fulfilled diagnostic criteria and had a documented ophthalmic examination. Six children had undergone liver transplantation. Three children had a definite diagnosis of IIH, 2 of whom developed postliver transplant. All 3 were treated medically, but 1 child with IIH required lumboperitoneal shunting. All 3 children with definite IIH have normal vision after treatment. Another child with probable undiagnosed IIH has bilateral optic atrophy and is registered blind. Two children with AGS are registered partially sighted, one with rod cone dystrophy and the other with pigmentary retinopathy and right disc atrophy.

SUMMARY

Although visual abnormalities are well described in children with AGS, a minority of children have significant progressive visual loss. Idiopathic intracranial hypertension has been identified as a potentially treatable precipitating factor.

CONCLUSIONS

We recommend annual fundoscopy in the follow-up of children with AGS to facilitate early detection and appropriate management of IIH to prevent visual loss.

Authors+Show Affiliations

Liver Unit, Birmingham Children's Hospital, Birmingham, UK.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

16954958

Citation

Narula, Priya, et al. "Visual Loss and Idiopathic Intracranial Hypertension in Children With Alagille Syndrome." Journal of Pediatric Gastroenterology and Nutrition, vol. 43, no. 3, 2006, pp. 348-52.
Narula P, Gifford J, Steggall MA, et al. Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. J Pediatr Gastroenterol Nutr. 2006;43(3):348-52.
Narula, P., Gifford, J., Steggall, M. A., Lloyd, C., Van Mourik, I. D., Mckiernan, P. J., Willshaw, H. E., & Kelly, D. (2006). Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. Journal of Pediatric Gastroenterology and Nutrition, 43(3), 348-52.
Narula P, et al. Visual Loss and Idiopathic Intracranial Hypertension in Children With Alagille Syndrome. J Pediatr Gastroenterol Nutr. 2006;43(3):348-52. PubMed PMID: 16954958.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Visual loss and idiopathic intracranial hypertension in children with Alagille syndrome. AU - Narula,Priya, AU - Gifford,Joanne, AU - Steggall,Margaret A, AU - Lloyd,Carla, AU - Van Mourik,Indra D M, AU - Mckiernan,Patrick J, AU - Willshaw,Harry E, AU - Kelly,Deirdre, PY - 2006/9/7/pubmed PY - 2006/10/14/medline PY - 2006/9/7/entrez SP - 348 EP - 52 JF - Journal of pediatric gastroenterology and nutrition JO - J Pediatr Gastroenterol Nutr VL - 43 IS - 3 N2 - BACKGROUND: Alagille syndrome (AGS) is an autosomal dominant, multisystem disorder defined by developmental abnormalities of the liver, heart, eye and skeleton. Although visual problems are recognised, the severity of visual loss and its link with idiopathic intracranial hypertension (IIH) has not been reported. AIM: To review the incidence of visual loss and IIH in children with AGS managed at a National Paediatric Liver Unit between 1989 and 2004. SUBJECTS AND METHODS: Retrospective case note review of children who fulfilled criteria for diagnosis of AGS and had an ophthalmic examination by a paediatric ophthalmologist. RESULTS: Fifty-five children with AGS were evaluated. Of these, 41 children fulfilled diagnostic criteria and had a documented ophthalmic examination. Six children had undergone liver transplantation. Three children had a definite diagnosis of IIH, 2 of whom developed postliver transplant. All 3 were treated medically, but 1 child with IIH required lumboperitoneal shunting. All 3 children with definite IIH have normal vision after treatment. Another child with probable undiagnosed IIH has bilateral optic atrophy and is registered blind. Two children with AGS are registered partially sighted, one with rod cone dystrophy and the other with pigmentary retinopathy and right disc atrophy. SUMMARY: Although visual abnormalities are well described in children with AGS, a minority of children have significant progressive visual loss. Idiopathic intracranial hypertension has been identified as a potentially treatable precipitating factor. CONCLUSIONS: We recommend annual fundoscopy in the follow-up of children with AGS to facilitate early detection and appropriate management of IIH to prevent visual loss. SN - 1536-4801 UR - https://www.unboundmedicine.com/medline/citation/16954958/Visual_loss_and_idiopathic_intracranial_hypertension_in_children_with_Alagille_syndrome_ L2 - https://doi.org/10.1097/01.mpg.0000221895.51748.44 DB - PRIME DP - Unbound Medicine ER -