Microphthalmos and optic disc coloboma associated with a retrobulbar cyst

Yagev, Ronit; Monos, Tova; Shoham, Akiva; Lifshitz, Tova

doi:10.1067/mpa.2000.109314

Cited by 8 publications

(3 citation statements)

References 4 publications

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“…Microphthalmia and congenital cataract was seen by some authors in connection with brain abnormalities or genetic aetiology (6,18–22). Several studies have investigated the association between findings on cerebral ultrasound and neurological and ophthalmological morbidity.…”

Section: Discussionmentioning

confidence: 99%

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Ocular complications at the limits of viability

Pulzer¹,

Robel-Tillig²,

Knüpfer³

et al. 2006

Acta Paediatrica

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Section: Discussionmentioning

confidence: 99%

“…He was able to fixate binocularly. In some studies, the evaluation of optic nerve morphology demonstrated that differences in ocular fundus morphology were correlated with differences in aetiology and timing of adverse events occurring in prenatal and perinatal life (1,3,16,20).…”

Section: Discussionmentioning

confidence: 99%

Ocular complications at the limits of viability

Pulzer¹,

Robel-Tillig²,

Knüpfer³

et al. 2006

Acta Paediatrica

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“…Our patient has a typical optic nerve coloboma with mild microphthalmia and a retrobulbar cyst. Orbital involvement with cyst formation and microphthalmic eye is thought to represent ectasia of the colobomatous globe through a scleral defect [Onwochei et al, 2000; Yagev et al, 2000].…”

Section: Discussionmentioning

confidence: 99%

Early detection of severe cholestatic hepatopathy in COACH syndrome

Foell¹,

August²,

Frosch³

et al. 2002

Am. J. Med. Genet.

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COACH syndrome is a disorder with cerebellar vermis hypoplasia, oligophrenia, ataxia, coloboma, and hepatic fibrosis. Sixteen cases with certain COACH diagnosis have been reported so far. Neurologic abnormalities are the first symptoms in most cases. The majority of cases were diagnosed late in childhood or adolescence. Complications of the hepatopathy contribute extensively to the morbidity and lethality in the course of the disease. Major complications are portal hypertension, esophageal varices, and gastrointestinal bleeding. We report of a child with only mild neurologic symptoms, but severe hepatic fibrosis with cholangiopathy, and review the literature. This is the first description of profound cholestatic hepatopathy in a very young child with COACH syndrome. The patient was found to have cerebellar vermis hypoplasia, unilateral optical nerve coloboma, mild dysmorphic signs, and a ventricular septum defect. Routine laboratory investigations eventually revealed elevated liver enzymes. Prothrombin time was abnormal. Ultrasound scan of the liver was normal. Hepatotropic viral infections were excluded. We performed a liver biopsy at the age of 16 months, confirming an early stage of cirrhosis with septal fibrosis and pseudolobules, inflammatory infiltrates, signs of cholestasis, and reduced numbers of intrahepatic bile ducts. Early detection and differentiation of liver pathology are important in COACH syndrome. Progressive destructive cholangiopathy may contribute to hepatic fibrosis in COACH syndrome. Liver disease can be severe even in cases with mild neurologic deficits.

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