*Correspondence: anaclariceprestes@gmail.com.
Abstract
Case Presentation: Female patient, mother had 6 prenatal visits in high obstetric risk due to maternal
hypothyroidism and gestational diabetes mellitus being treated with diet. Multiple
malformations were identified in obstetric ultrasounds, including reduced measurements
of the lateral ventricles in the cephalic pole, dilated 3rd ventricle and atypical
corpus callosum suggesting dysgenesis. Cardiac area slightly increased in volume with
impression of CIV, azygos vein dilation, suggesting alteration in systemic venous
drainage. Left kidney not visualized. Right kidney with reduced dimensions and loss
of corticomedullary differentiation. Fetal echocardiogram confirmed CIV. Normal birth
without complications. APGAR 8/9. At physical examination: microphthalmia, ocular
hypertelorism, epicantus, oblique ocular fissure, short lingual frenulum, micrognathia,
low ear implantation, mammary hypertelorism, preauricular pits, typical female genitalia
with prominent labia minora. Abdominal ultrassound showed uncharacterized spleen,
right kidney agenesis, left kidney with diffuse parenchymal nephropathy. Karyotype
was collected, showing trisomy of chromosome 22 with a deletion on the long arm. 47,
XX, +del(22)(q13). A significant alteration in auditory function was identified in
an examination of auditory evoked potentials of the brainstem. Patient still continue
in multidisciplinary outpatient follow-up with significant delay in neuropsychomotor
development and dysphagia.
Discussion: Trisomy 22 syndrome and Phelan-McDermid syndrome are both rare genetic disorders
with very low incidence. The most common symptoms of this syndrome include intellectual
disability, neurodevelopmental delay, growth deficiency, and malformations of the
heart and other organs. However, the severity of the symptoms can vary widely among
affected individuals. Phelan-McDermid syndrome, on the other hand, is caused by a
deletion or mutation in the SHANK3 gene on chromosome 22. This disorder is also characterized
by intellectual disability and developmental delay, as well as delayed or absent speech,
low muscle tone, and autism spectrum disorder. Some affected individuals may also
experience seizures and other neurological symptoms.
Final Comments: While both Trisomy 22 syndrome and Phelan-McDermid syndrome are rare diseases, there
have been no reported cases in the literature of an individual with both syndromes,
like our patient.
