Dados do Trabalho

Título

PHELAN-MCDERMID SYNDROME IN A PATIENT WITH CHROMOSOME 22 TRISSOMY - A CASE REPORT

Apresentação do caso

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). 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.

Discussão

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.

Comentários finais

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.

Referências (se houver)

Palavras Chave

Trisomy, Developmental Disabilities, epilepsy

Fonte de Fomento (se houver)

Declaração de conflito de interesses de TODOS os autores

Não há conflitos a declarar

Área

Neurogenética