Dados do Trabalho

Título

GOMEZ LOPEZ HERNADEZ SYNDROME: A CASE REPORT

Apresentação do caso

Female patient, 8 years old, born in Itanhaem, from São Paulo, with a previous context of hypotonic infant syndrome, repetitive head nodding movements, convergent strabismus, alopecia, low implantation of the ears and short stature. On evaluation, he was alert, without language alterations, low threshold for fructation, difficulty concentrating, hyperactivity, but without evidence of intellectual disability. Alopecia on the left forehead, low ear implantation, global grade 5 muscle strength, normoactive osteotendinous reflexes, no clonus, no fasciculations, adequate tone and trophism. Abnormal “no-no” head movements, with inhibition by eye fixation for up to two seconds, mild dysmetria and intention tremor. Broad-based gait, imbalance and fall without a preferred side to the tandem, with trunk instability. She assumed the nine gaze positions without diplopia, had limited saccades with cervical correction. Hypoesthesia on the left face, absent left palpebral corneal reflex, with balaclava pattern, normal jaw movement. Cranial MRI showed partial rhomboencephalosynapse and hypoplasia of the left trigeminal nerve.

Discussão

The clinical picture allowed the clinical diagnosis of Gomez Lopez Hernadez syndrome, also known as Cerebelotrigeminal Dermal Dysplasia, characterized by the triad rhombencephalosynapse, trigeminal anesthesia and alopecia, in addition to other heterogeneous clinical features that vary from case to case, such as midface hypoplasia. , turricephaly, prognathism, hypertelorism, low implantation of the ears, short stature, corneal opacity, ataxia, intellectual disability and delayed neuropsychomotor development. The pathophysiology involved is still not fully understood, the most accepted theory is the failure of migration of ectoderm cells around the 4th month of gestation, with no confirmed evidence of genetic influence. Differential diagnosis must be considered between CEBALID (autosomal dominant mutation in the MN1 protooncogene) and VACTERL syndromes. Treatment involves a multidisciplinary team for rehabilitation, important to emphasize the risk of corneal injuries.

Comentários finais

In conclusion, despite being rare, the condition described must be known and differentiated from the others, to ensure correct management and better quality of life for patients.

Referências (se houver)

Bowdin, S., Phelan, E., Watson, R., McCreery, K. M., Reardon, W. Rhombencephalosynapsis presenting antenatally with ventriculomegaly/hydrocephalus in a likely case of Gomez-Lopez-Hernandez syndrome. Clin. Dysmorph. 16: 21-25, 2007. Brocks, D., Irons, M., Sadeghi-Najad, A., McCauley, R., Wheeler, P. Gomez-Lopez-Hernandez syndrome: expansion of the phenotype. Am. J. Med. Genet. 94: 405-408, 2000.Sukhudyan B, Jaladyan V, Melikyan G, Schlump JU, Boltshauser E, Poretti A. Gómez-López-Hernández syndrome: reappraisal of the diagnostic criteria. Eur J Pediatr. 2010 Dec;169(12):1523-8. 

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