*Correspondence: eduardotroijo@hotmail.com.
Abstract
Case Presentation: Late preterm male newborn, delivered by cesarean section due to polyhydramnios and
fetal macrosomia, was born with good vitality. The mother had gestational diabetes,
with no other important antecedents during pregnancy. The baby had birth weight, length
and head circumference above the 98th percentile. In the neonatal period, he presented
hypoactivity, dysphagia and drowsiness, without other associated symptoms, being discharged
on the 16th day after normal neonatal screenings, diet progression and symptom improvement.
During follow-up, the patient had several hospitalizations due to respiratory conditions.
In addition, he evolved with notable hypotonia and dysphagia, requiring gastrostomy.
Beyond that, the patient had a head circumference and length maintained close to the
P98%, with significant developmental delay (Head erect and steady at age 6 months,
sits without support at age 9 months, patient still does not walk holding onto furniture,
eats by mouth or vocalizes without crying at 1 year and 1 month old). Progressive
facial dysmorphism and scoliosis become evident at age 1 year. On investigation, laboratory
tests, cranial MR with spectroscopy, fundoscopy, expanded newborn screening and CGH
ARRAY were normal. In Exome, a probably pathogenic heterozygous variant in the NSD1
gene (NM_172349.2): c.3625del:p (Ala1209GinfsTer9) was identified. This variant not
yet described in the literature is expected to cause loss of function of an allele,
which leads to pathogenicity related to Sotos Syndrome and is not present in population
databases. The diagnosis of Sotos syndrome was made by relating the variant to the
clinical picture.
Discussion: Diagnosing Sotos syndrome at first glance can be challenging due to the broad spectrum
of the initial clinical presentation. There are patients with multiple congenital
anomalies and neonatal complications and there are patients with relatively normal
physical examinations. Furthermore, confounding factors such as anthropometric proportionality
at birth may be present. The learning disability ranges from mild (affected individuals
live independently) to a severe learning disability. However, cardinal characteristics
in the medium and long term become evident and should refer to the diagnosis.
Final Comments: This report describes a new variant with findings of severe symptoms such as dysphagia
requiring gastrostomy, scoliosis before the first year of life, significant developmental
delay and early impairment in socialization.
