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Published on: November 5, 2019
Case 278
Felipe Alba Scortegagna1, Felipe T Pacheco1, Renato Hoffmann Nunes1
1From the Division of Neuroradiology, Department of Diagnostic Imaging, Santa Casa de Misericórdia de São Paulo, Rua Dr Cesário Motta Júnior 112, Vila Buarque, São Paulo, SP 01009-972, Brazil (F.A.S., F.T.P., R.H.N., A.J.d.R.); and Divisions of Neuroradiology (F.A.S., F.T.P., R.H.N., A.S., A.J.d.R.) and Genetics (M.P.M.), Diagnósticos da América SA, São Paulo, Brazil.
A 13-year-old girl with consanguineous parents experienced intellectual impairment and eye movement disorders. Progressive back pain was also a significant symptom, indicating a complex neurological presentation.
Area of Science:
- Neurology
- Genetics
- Ophthalmology
Background:
- A 13-year-old female presented with a history of consanguineous parentage.
- The patient exhibited mild intellectual impairment, convergent strabismus, horizontal gaze palsy, and bilateral abducens palsy.
- Progressive back pain since age 5 was also reported, with preserved vertical gaze and no facial paralysis.
Purpose of the Study:
- To investigate the underlying cause of the complex neurological and ophthalmological symptoms in a young patient.
- To explore potential genetic or syndromic etiologies given the consanguineous parental background and constellation of symptoms.
Main Methods:
- Clinical examination focusing on neurological and ophthalmological findings.
- Detailed patient history including developmental milestones and symptom progression.
- Family history assessment, including consanguinity.
Main Results:
- The patient presented with a specific pattern of cranial nerve palsies (abducens palsy, gaze palsy) and ophthalmological findings (strabismus).
- Intellectual impairment and progressive back pain suggest a broader systemic or neurological condition.
- The consanguineous parental background is a key factor in considering inherited disorders.
Conclusions:
- The combination of intellectual impairment, specific gaze abnormalities, and progressive back pain in a child of consanguineous parents warrants further investigation for rare genetic syndromes.
- Early diagnosis and understanding of the etiology are crucial for potential management and genetic counseling.
