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Case Reports
. 2018 Aug;7(3):191-195.
doi: 10.5582/irdr.2018.01062.

Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature

Bakur Kotetishvili  1 , Malkhaz Makashvili  2 , Michael Okujava  3   4 , Alexandre Kotetishvili  1 , Tamar Kopadze  5
Affiliations
Case Reports

Co-occurrence of Gomez-Lopez-Hernandez syndrome and Autism Spectrum Disorder: Case report with review of literature

Bakur Kotetishvili et al. Intractable Rare Dis Res. 2018 Aug.

Abstract

We report on Gomez-Lopez-Hernandez syndrome (GLHS) in a Caucasian patient, Georgian, 36 months, male, only child born to non-consanguineous parents. There were no similar cases in the family and among close relatives. MRI study confirmed rhombencephalosynapsis (fusion of cerebellar hemispheres in combination with the agenesis of cerebellar vermis) and mild dilation of the lateral ventricles. Other main findings are bilateral parieto-temporal alopecia and brachiturricephaly (broad skull shape and tower-like elongation of the cranium in the vertical axis), low-set posteriorly retracted ears, strabismus (in the right eye), hypotonia (Beighton scale score - 6) and ataxia (trouble maintaining balance). Patient has no signs of trigeminal anesthesia, no recurrent, painless eye infections, corneal opacities and ulcerated wounds on the facial skin and buccal mucosa were observed. Based on the scientific literature we suggest a finding of brachiturricephaly in addition to rhombencephalosynapsis and bilateral alopecia sufficient to put a diagnosis of GLHS. Patient did not speak, disregarded guardians and clinician addressing him, did not make eye contact, was restless and occasionally displayed aggression and self-injurious behavior. These symptoms confirm the earlier diagnosis of Autism Spectrum Disorder (ASD). Therefore, the current study describes a case of co-occurrence of GLHS and ASD.

Keywords: Gomez-Lopez-Hernandez syndrome; Rhombencephalosynapsis; alopecia; autism; brachiturricephaly.

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Figures

Figure 1.
Figure 1.
The lack of hair (alopecia) in the left parieto-temporal area; (B), The lack of hair (alopecia) in the right parietotemporal area, the head alongated in the vertical axis and the low-set ears; (C), The head elongated in the vertical axis and deformed corpus callosum - CC (MRI, sagittal plane). CC deformation is expressed in arching of the middle part of the CC.
Figure 2.
Figure 2.
(A), The lack of hair (alopecia) in the right parieto-temporal area and low-set, posteriorly-retracted ears; (B), The lack of hair (alopecia) in the left parietotemporal area.
Figure 3.
Figure 3.
Fusion of the cerebellar hemispheres and agenesis of the cerebellar vermis. (A), MRI, T2-weighted image, coronal plane; (B), MRI, T2-weighted image, axial plane.
See this image and copyright information in PMC

References

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