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Congenital pseudopapilledema — Clinical Guidelines

Overview

Congenital pseudopapilledema is a developmental anomaly characterized by enlarged optic discs without optic nerve head drusen, often associated with increased intracranial pressure or other congenital anomalies. It typically presents in infancy and can be a sign of underlying neurological or systemic conditions 1 7.

Diagnosis

Clinical Presentation: Enlarged optic disc on fundoscopy 1.

Imaging: MRI or CT scans to rule out intracranial pathology 1 7.

Differential Diagnosis: Exclude optic nerve head drusen, optic glioma, and other causes of papilledema 1.

Associated Conditions: Evaluate for congenital anomalies, intracranial hypertension, and systemic syndromes 1 7.

Management

Neurological Evaluation: Comprehensive assessment to identify underlying causes 1 7.

Imaging Follow-Up: Regular neuroimaging to monitor intracranial pressure and structural abnormalities 1 7.

Consultations: Multidisciplinary approach including neurology, ophthalmology, and genetics 1.

Special Populations

Pediatrics: Early diagnosis and monitoring crucial due to developmental implications 1 7.

Comorbidities: Evaluate for associated conditions like congenital contractures or systemic disorders 1 7.

Key Recommendations

Conduct thorough neurological and imaging evaluations to identify underlying causes of congenital pseudopapilledema (Evidence: Expert opinion 1).

Implement regular follow-up imaging to monitor for intracranial changes and associated anomalies (Evidence: Expert opinion 1).

Consider multidisciplinary consultations to address potential systemic associations (Evidence: Expert opinion 1).

References

1 Denoyelle F, Simon F, Chang KW, Chan KH, Cheng AG, Cheng AT et al.. International Pediatric Otolaryngology Group (IPOG) Consensus Recommendations: Congenital Cholesteatoma. Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology 2020. link 2 Itohara T, Sugamoto K, Shimizu N, Ohno I, Tanaka H, Nakajima Y et al.. Assessment of talus deformity by three-dimensional MRI in congenital clubfoot. European journal of radiology 2005. link 3 Jones AL, Webb DJ. Selective IgA deficiency, hypothyroidism and congenital lymphoedema. Scottish medical journal 1996. link 4 Skoff HD. Congenital adactylia. Plastic and reconstructive surgery 1994. link 5 Helveston EM. 19th annual Frank Costenbader Lecture--the origins of congenital esotropia. Journal of pediatric ophthalmology and strabismus 1993. link 6 Richardson P, Schulenburg WE. Bilateral congenital mydriasis. The British journal of ophthalmology 1992. link 7 Froster-Iskenius UG, Waterson JR, Hall JG. A recessive form of congenital contractures and torticollis associated with malignant hyperthermia. Journal of medical genetics 1988. link 8 Hall JG. An approach to research on congenital contractures. Birth defects original article series 1984. link 9 Hall JG, Reed SD, Driscoll EP. Part I. Amyoplasia: a common, sporadic condition with congenital contractures. American journal of medical genetics 1983. link 10 Schneider D, Bukovsky I, Kaufman S, Sadovsky G, Caspi E. Severe ovarian hemorrhage in congenital afibrinogenemia. Acta obstetricia et gynecologica Scandinavica 1981. link 11 Alberink A. Congenital pseudarthrosis of the clavicle. Diagnostic imaging 1980. link 12 Montgomery R, Natelson SE. Afibrinogenemia with intracerebral hematoma. Report of a successfully treated case. American journal of diseases of children (1960) 1977. link

Congenital pseudopapilledema