*Correspondence: gabriellemmp1@hotmail.com.
Abstract
Case Presentation: YSM, 2 years and 9 months old, female, born at term by vaginal delivery. During pregnancy,
the mother had anemia in the fifth month. At birth, Apgar 7/8 and head circumference
(HC) 34 cm were registered, having to be hospitalized for 1 day due to hypertelorism,
bilateral palmar crease variations, nose base flattening, oblique palpebral fissures
and micrognathia, generating suspicion of Pierre Robin Syndrome. At 4 months, she
took the Brainstem Auditory Evoked Potential Test, which resulted in no response in
the right ear. At 10 months, she underwent cranial magnetic resonance imaging, which
had a normal result, although microcephaly and neuropsychomotor developmental delay
(NPMD) were observed. At 11 months, she was evaluated with hypotonia, craniofacial
disproportion, scaphocephaly, in addition to showing little interest in toys, fixed
gaze and low social interaction. At 25 months, through the CGH-array examination,
which displayed a deletion of 10q26.3 and duplication of 17q25.3, also showing poor
social contact, unmotivated laughter, hypotonia, stereotypies and global ataxia with
gait with extended base. At 33 months of age, she remains with NPMD, does not speak,
sits in "W", has sensory hypersensitivity, head forward and preference for the bear
position.
Discussion: The case describes complications related to the 10q deletion syndrome (D10q), a pathology
with a prevalence <1/1,000,000, related to the presence of facial dysmorphia, microcephaly,
ataxia, stereotypies, deafness, speech delay, hypotonia, micrognathia and PMDN, symptoms
detected in the patient, who still has a risk of developing scoliosis, short stature,
genitourinary alterations and intellectual disability. It is also noteworthy that
the NPMD and the behavior resulting from this deletion in 10q26 is compatible with
the symptoms of autism. Furthermore, such symptomatology is also corroborated with
Trisomy 17q, which has similar phenotypic characteristics to D10q, except for its
60% penetrance of cardiac anomalies.
Final Comments: Given the number of complications that both genetic alterations entail, it is necessary
that such mutations be further studied by the scientific community, as these genes
substantially affect neurodevelopment. Thus, early diagnosis helps to develop a better
therapeutic intervention and improves the quality of life of patients and their families
