Optic nerve hypoplasia in cholestatic infants: a multiple case study

Fahnehjelm, Kristina Teär; Fischler, Björn; Jacobson, Lena; Németh, Antal

doi:10.1034/j.1600-0420.2003.00038.x

Cited by 11 publications

(4 citation statements)

References 34 publications

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“…Neonatal jaundice was only found in children with ONH (32%), which is in accordance with the 23% reported by Margalith et al (1984). Two of the children with neonatal jaundice developed neonatal cholestasis and have been reported elsewhere (Fahnehjelm et al 2003b).…”

Section: Discussionmentioning

confidence: 99%

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Visually impaired children with posterior ocular malformations: pre‐ and neonatal data and visual functions

Fahnehjelm¹,

Jacobson²,

Hellström³

et al. 2003

Acta Ophthalmologica Scandinavica

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ABSTRACT.Aim: To analyse pre-and neonatal data and ocular findings in children with visual impairment caused by posterior ocular malformations. Methods: Medical records were scrutinized, dried blood spot cards were analysed for virus DNA and ophthalmological assessments were performed in 28 children with optic nerve hypoplasia (ONH) and 10 with optic/chorio-retinal coloboma. Results: Prenatal exposure to possible teratogens was documented in 5/28, herpes simplex virus type 1 DNA was identified in the dried blood spot cards of 1/26 children and neonatal hypoglycaemia in 12/28 children with ONH. The time delay from ocular to endocrinological diagnosis and treatment was 3 years. Children with ONH and severe visual impairment had endocrinopathy more often (11/13) than ONH children with better visual functions (5/15). Prenatal exposure to teratogens or neonatal hypoglycaemia was not identified in any of the children with coloboma. Conclusion: Neonatal hypoglycaemia was common in children with ONH. Severe visual impairment predicted endocrinopathy. Analysis of dried blood spot cards could serve as an additional diagnostic tool in children with ocular malformations.

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Section: Discussionmentioning

confidence: 99%

“…Details of somatic, neuroradiological and psychological characteristics of the present study group have been reported elsewhere (Fahnehjelm et al 2003a). Six of the patients with ONH have been reported elsewhere (Hellström et al 1999b; Fahnehjelm et al 2003b).…”

Section: Introductionmentioning

confidence: 99%

Visually impaired children with posterior ocular malformations: pre‐ and neonatal data and visual functions

Fahnehjelm¹,

Jacobson²,

Hellström³

et al. 2003

Acta Ophthalmologica Scandinavica

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“…Some of the diseases in the group of metabolic disorders as well as the cardiovascular and chromosomal disorders are known to have malformations related to the disease aetiology regardless of the presence of cholestasis. [76][77][78][79][80][81][82][83][84][85][86][87][88][89][90][91][92][93] The details can be seen in Table 2B and Table S5.…”

Section: Malformationsmentioning

confidence: 99%

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

Helt,

Johansen,

Faurholt‐Jepsen

et al. 2024

Acta Paediatrica

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AimTo determine if children with neonatal cholestatic liver disease had concurrent and later findings on brain imaging studies that could be attributed and the cholestasis to contribute to the understanding of the impaired neuropsychological development.MethodsOvid MEDLINE and EMBASE were searched on July 21, 2022, and updated on March 26, 2023. Studies with children under 18 years of age with neonatal cholestasis and a brain scan at the time of diagnosis or later in life were included. Excluded studies were non‐English, non‐human, reviews or conference abstracts. Data were extracted on demographics, brain imaging findings, treatment and outcome. The results were summarised by disease categories. Risk of bias was assessed using JBI critical appraisal tools.ResultsThe search yielded 12 011 reports, of which 1261 underwent full text review and 89 were eligible for inclusion. Haemorrhage was the most common finding, especially in children with bile duct obstruction, including biliary atresia. Some findings were resolved after liver transplantation.ConclusionChildren with neonatal cholestasis had changes in brain imaging, which might play a role in impaired neuropsychological development, but longitudinal clinical research with structured assessment is needed to better qualify the aetiology of the impairment.

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“…No ocular manifestations have been reported in association with AATD and PFIC. However, pituitary dysfunction and panhypopituitarism can be associated with optic nerve hypoplasia (ONH) (Fahnehjelm et al. 2003; Karnsakul et al.…”

Section: Introductionmentioning

confidence: 99%

Occurrence and pattern of ocular disease in children with cholestatic disorders

Fahnehjelm

Fischler

Martin

et al. 2011

Acta Ophthalmologica

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ABSTRACT.Purpose: To describe visual function and ocular manifestations in patients with onset of cholestasis during the neonatal period. Methods: Patients with neonatal cholestasis, either transitory or chronic, who came for assessment to our tertiary referral centre were included in a crosssectional study and underwent ophthalmological examinations including fundus photography. A total of 57 patients (24 girls and 33 boys), aged 0.4-18.0 years, were included. Of these, 28 patients had biliary atresia, 11 had Alagille's syndrome, five had progressive familiar intrahepatic cholestasis and nine had different disorders such as pituitary insufficiency, alpha-1-antitrypsin deficiency, mitochondriopathy, congenital infections or cholestasis caused by unknown reasons. Results: Visual dysfunction and ⁄ or one or several ocular manifestations occurred in 39 out of 57 patients. Major ocular malformations occurred in five patients. Out of three patients with biliary atresia, one patient had severe visual impairment caused by microphthalmia and chorioretinal coloboma, one patient with Cat Eye syndrome had bilateral uveochorioretinal coloboma and one patient had Rieger's anomaly. Two patients, both with pituitary deficiency and transient cholestasis, had severe unilateral visual impairment caused by optic nerve hypoplasia. Conclusion: The majority (68%) of the patients with cholestasis had ocular manifestations. Although the severity of ocular complications varied with diagnosis, and was most apparent among patients with biliary atresia or pituitary deficiency, no conclusion can be drawn regarding the connections between these conditions from the present study. Nevertheless, ocular assessment is important for diagnostic purposes and for early intervention in patients with cholestasis.

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Optic nerve hypoplasia in cholestatic infants: a multiple case study

Cited by 11 publications

References 34 publications

Visually impaired children with posterior ocular malformations: pre‐ and neonatal data and visual functions

Visually impaired children with posterior ocular malformations: pre‐ and neonatal data and visual functions

Brain imaging in children with neonatal cholestatic liver disease: A systematic review

Occurrence and pattern of ocular disease in children with cholestatic disorders

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