Poretti-Boltshauser Syndrome: A Potential Pathognomonic "Wolfjaw" Pattern of Retinal Perfusion

Area of Science:

• Ophthalmology
• Genetics
• Neurology

Background:

• Poretti-Boltshauser syndrome is a rare genetic disorder.
• Infants may present with complex ophthalmological and neurological symptoms.

Purpose of the Study:

• To report a case of Poretti-Boltshauser syndrome in a 9-month-old boy.
• To highlight diagnostic challenges and key clinical features.

Main Methods:

• Clinical presentation including ophthalmological examination, optical coherence tomography, fluorescein angiography, electroretinography, and magnetic resonance imaging.
• Genetic testing was performed.
• Review of diagnostic findings and literature.

Main Results:

• The patient exhibited bilateral tearing, strabismus, nystagmus, esotropia, hypertonia, head movements, staphylomas, abnormal retinal contour, macular nonperfusion, photoreceptor dysfunction, and cerebellar hypoplasia.
• Initial genetic testing was negative, but further analysis identified a variant associated with Poretti-Boltshauser syndrome.
• A characteristic "wolfjaw" perfusion pattern was observed.

Conclusions:

• This case illustrates the diagnostic odyssey for rare genetic syndromes.
• Strong clinical suspicion is crucial for identifying conditions like Poretti-Boltshauser syndrome, even with initially inconclusive genetic results.
• The characteristic "wolfjaw" perfusion pattern on FA is a key diagnostic clue.